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    DMTN dematin actin binding protein [ Homo sapiens (human) ]

    Gene ID: 2039, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DMTNprovided by HGNC
    Official Full Name
    dematin actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:3382
    See related
    Ensembl:ENSG00000158856 MIM:125305; AllianceGenome:HGNC:3382
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMT; EPB49
    Summary
    The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
    Expression
    Broad expression in brain (RPKM 41.4), bone marrow (RPKM 23.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DMTN in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22048931..22082525)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22322887..22356487)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21906442..21940036)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene nucleophosmin/nucleoplasmin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21893938-21894622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21894623-21895307 Neighboring gene VISTA enhancer hs782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903342-21903848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903849-21904354 Neighboring gene fibroblast growth factor 17 Neighboring gene VISTA enhancer hs781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21908959-21909751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21915443-21916404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21917368-21918329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21943692-21944301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21951526-21952026 Neighboring gene FHF complex subunit HOOK interacting protein 2B Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21961808-21961955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:21964802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21965271-21966044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18979 Neighboring gene nudix hydrolase 18

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site. Frank BS, et al. J Biol Chem, 2004 Feb 27. PMID 14660664
    2. Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling. Wang M, et al. Exp Cell Res, 2022 Aug 1. PMID 35561787
    3. A phosphorylation-induced conformation change in dematin headpiece. Jiang ZG, et al. Structure, 2006 Feb. PMID 16472756
    4. Phosphorylation-induced changes in backbone dynamics of the dematin headpiece C-terminal domain. Vugmeyster L, et al. J Biomol NMR, 2009 Jan. PMID 19030997, Free PMC Article
    5. Comparison of fast backbone dynamics at amide nitrogen and carbonyl sites in dematin headpiece C-terminal domain and its S74E mutant. Vugmeyster L, et al. J Biomol NMR, 2010 Jun. PMID 20396930

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
      Title: Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
    2. When unphosphorylated, dematin's two F-actin binding domains move independent of one another permitting them to bind different F-actin filaments.
      Title: The allosteric mechanism induced by protein kinase A (PKA) phosphorylation of dematin (band 4.9).
    3. the headpiece domain of dematin regulates calcium mobilization and signaling in platelets
      Title: Headpiece domain of dematin regulates calcium mobilization and signaling in platelets.
    4. a novel functional role for dematin in regulating erythrocyte membrane function.
      Title: Identification of a novel role for dematin in regulating red cell membrane function by modulating spectrin-actin interaction.
    5. Fast backbone dynamics probed at amide nitrogen versus carbonyl carbon sites for dematin headpiece C-terminal. The reduction of mobility in the loop region upon the S74E mutation can be seen from the (15)N order parameters.
      Title: Comparison of fast backbone dynamics at amide nitrogen and carbonyl sites in dematin headpiece C-terminal domain and its S74E mutant.
    6. results suggest that the core domain of dematin exhibits properties typical of a natively unfolded protein, while the headpiece domain is folded in a conformation essentially identical to its native structure
      Title: Dematin exhibits a natively unfolded core domain and an independently folded headpiece domain.
    7. study investigated motions in the backbone of dematin headpiece domain and its mutant DHPS74E using several complementary NMR relaxation techniques
      Title: Phosphorylation-induced changes in backbone dynamics of the dematin headpiece C-terminal domain.
    8. results suggest that phosphorylation of the dematin headpiece acts as a conformational switch within this headpiece domain
      Title: The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site.
    9. a crucial role for this proline residue in structural stability and folding potential of HP (sub)domains consistent with Pro-Trp stacking as a more general determinant of protein stability
      Title: Identification of the PXW sequence as a structural gatekeeper of the headpiece C-terminal subdomain fold.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ78462, FLJ98848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables spectrin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in actin filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in actin filament bundle assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in actin filament capping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endoplasmic reticulum tubular network organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in erythrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell-substrate adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of focal adhesion assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of peptidyl-threonine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of substrate adhesion-dependent cell spreading ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of fibroblast migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein-containing complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smooth endoplasmic reticulum calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in actin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in platelet dense tubular network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in smooth endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spectrin-associated cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dematin
    Names
    erythrocyte membrane protein band 4.9 (dematin)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001114135.5 → NP_001107607.1  dematin isoform 1

      See identical proteins and their annotated locations for NP_001107607.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
      Source sequence(s)
      BC006318, BC052805, BI222385, DA131656, DA267327
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Related
      ENSP00000265800.5, ENST00000265800.9
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    2. NM_001114136.3 → NP_001107608.1  dematin isoform 1

      See identical proteins and their annotated locations for NP_001107608.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
      Source sequence(s)
      AK289650, BC052805, BI222385, DA521027
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Related
      ENSP00000416111.1, ENST00000432128.6
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    3. NM_001114137.4 → NP_001107609.1  dematin isoform 2

      See identical proteins and their annotated locations for NP_001107609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
      Source sequence(s)
      AK055842, BC052805, BI222385, DA267327, DA634148
      Consensus CDS
      CCDS47820.1
      UniProtKB/Swiss-Prot
      Q08495
      Related
      ENSP00000370879.3, ENST00000381470.7
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    4. NM_001114138.3 → NP_001107610.1  dematin isoform 2

      See identical proteins and their annotated locations for NP_001107610.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate splice site 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
      Source sequence(s)
      AC091171, AK055842, BC052805, BI222385, DA261872
      Consensus CDS
      CCDS47820.1
      UniProtKB/Swiss-Prot
      Q08495
      Related
      ENSP00000401291.1, ENST00000415253.5
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    5. NM_001114139.4 → NP_001107611.1  dematin isoform 3

      See identical proteins and their annotated locations for NP_001107611.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate exon in the 5' UTR and lacks alternate in-frame exons in the 5' and 3' coding regions, compared to variant 1. Variants 6 and 17 encode the same isoform (3), which is shorter than isoform 1.
      Source sequence(s)
      AK091581, BC052805, BI222385, DA267327
      Consensus CDS
      CCDS47821.1
      UniProtKB/Swiss-Prot
      Q08495
      Related
      ENSP00000397904.2, ENST00000443491.6
      Conserved Domains (2) summary
      smart00153
      Location:323 → 358
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    6. NM_001302816.3 → NP_001289745.1  dematin isoform 2

      See identical proteins and their annotated locations for NP_001289745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5 and 7 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
      Source sequence(s)
      AC091171, BC006318, BC052805, BI222385, DA170493, DA261872, DA267327, L19713
      Consensus CDS
      CCDS47820.1
      UniProtKB/Swiss-Prot
      Q08495
      Related
      ENSP00000429377.1, ENST00000519907.5
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    7. NM_001302817.3 → NP_001289746.1  dematin isoform 4

      See identical proteins and their annotated locations for NP_001289746.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. Variants 8 and 18 encode the same isoform (4), which is shorter than isoform 1.
      Source sequence(s)
      AK295452, BC052805, BI222385, DA267327, DA521027
      Consensus CDS
      CCDS78311.1
      UniProtKB/Swiss-Prot
      Q08495
      Related
      ENSP00000430618.1, ENST00000517600.5
      Conserved Domains (2) summary
      smart00153
      Location:330 → 365
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 329
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    8. NM_001323378.2 → NP_001310307.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      BC006318, BC052805, BI222385, DA170493, DA267327, DA521027
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Related
      ENSP00000430609.2, ENST00000517305.5
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    9. NM_001323379.2 → NP_001310308.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK055842, AK289650, BC052805, BI222385, DA261872
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    10. NM_001323380.2 → NP_001310309.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK055842, AK289650, BC052805, BI222385, BM547218
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    11. NM_001323381.2 → NP_001310310.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      BC006318, BC052805, BI222385, DA141491, DA170493, DA267327, DA383880
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    12. NM_001323382.2 → NP_001310311.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK289650, BC052805, BI222385, BI547589, HY024046
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    13. NM_001323383.2 → NP_001310312.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK055842, BC052805, BI222385, DA521027
      Consensus CDS
      CCDS47820.1
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    14. NM_001323384.2 → NP_001310313.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK055842, BC052805, BI222385, DA267327, DA521027
      Consensus CDS
      CCDS47820.1
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    15. NM_001323385.2 → NP_001310314.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK055842, AK295452, BC052805, BI222385, DA141491, DA267327, DA383880
      Consensus CDS
      CCDS47820.1
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    16. NM_001323387.2 → NP_001310316.1  dematin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK091581, BC052805, BI222385, BM547218, DA267327
      Consensus CDS
      CCDS47821.1
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:323 → 358
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    17. NM_001323388.2 → NP_001310317.1  dematin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK289650, AK295452, BC052805, BI222385, DA521027
      Consensus CDS
      CCDS78311.1
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:330 → 365
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 329
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    18. NM_001323389.2 → NP_001310318.1  dematin isoform 5

      Status: REVIEWED

      Source sequence(s)
      BC006318, BC052805, BI222385, DA170493, DA267327, DA521027
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:355 → 390
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 354
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    19. NM_001323390.2 → NP_001310319.1  dematin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK289650, BC006318, BC052805, BI222385, DA521027
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:355 → 390
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 354
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    20. NM_001323391.2 → NP_001310320.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      BC006318, BC052805, BI222385, DA131656, DA521027
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    21. NM_001323392.2 → NP_001310321.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC091171, BC006318, BC052805, BI222385, DA131656, DA170493, DA261872
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    22. NM_001323393.2 → NP_001310322.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AK289650, BC006318, BC052805, BI222385, DA131656, DA521027
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    23. NM_001323394.2 → NP_001310323.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK055842, AK289650, BC006318, BC052805, BI222385, DA131656, DA261872
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    24. NM_001323395.2 → NP_001310324.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK289650, BC006318, BC052805, BI222385, BM547218, DA131656
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    25. NM_001323396.2 → NP_001310325.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      BC006318, BC052805, BI222385, DA131656
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    26. NM_001323397.2 → NP_001310326.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC091171, BC006318, BC052805, BI222385, BI547589, DA131656, HY024046
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    27. NM_001323398.2 → NP_001310327.1  dematin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AK295452, BC052805, BI222385, DA267327, DA521027
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:308 → 343
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 307
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    28. NM_001323399.2 → NP_001310328.1  dematin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AK295452, BC052805, BI222385, DA521027
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:308 → 343
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 307
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    29. NM_001323400.2 → NP_001310329.1  dematin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AK295452, BC052805, BI222385, DA141491, DA267327, DA383880
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:308 → 343
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 307
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    30. NM_001323401.2 → NP_001310330.1  dematin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC091171, AK295452, BC052805, BI222385, BM547218, DA267327
      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:308 → 343
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 307
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    31. NM_001387723.1 → NP_001374652.1  dematin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Conserved Domains (2) summary
      smart00153
      Location:345 → 380
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 344
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    32. NM_001387726.1 → NP_001374655.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47820.1
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    33. NM_001387727.1 → NP_001374656.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    34. NM_001387728.1 → NP_001374657.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47820.1
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    35. NM_001387730.1 → NP_001374659.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    36. NM_001387732.1 → NP_001374661.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    37. NM_001387734.1 → NP_001374663.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47820.1
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    38. NM_001387735.1 → NP_001374664.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    39. NM_001387736.1 → NP_001374665.1  dematin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47821.1
      Related
      ENSP00000429234.2, ENST00000523782.6
      Conserved Domains (2) summary
      smart00153
      Location:323 → 358
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    40. NM_001387737.1 → NP_001374666.1  dematin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Conserved Domains (2) summary
      smart00153
      Location:333 → 368
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 332
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    41. NM_001387742.1 → NP_001374671.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47820.1
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    42. NM_001387743.1 → NP_001374672.1  dematin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Conserved Domains (2) summary
      smart00153
      Location:355 → 390
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 354
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    43. NM_001387744.1 → NP_001374673.1  dematin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS78311.1
      Conserved Domains (2) summary
      smart00153
      Location:330 → 365
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 329
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    44. NM_001387745.1 → NP_001374674.1  dematin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Conserved Domains (2) summary
      smart00153
      Location:333 → 368
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 332
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    45. NM_001387750.1 → NP_001374679.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    46. NM_001387751.1 → NP_001374680.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Related
      ENSP00000350977.3, ENST00000358242.6
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    47. NM_001387752.1 → NP_001374681.1  dematin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47821.1
      Conserved Domains (2) summary
      smart00153
      Location:323 → 358
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    48. NM_001387753.1 → NP_001374682.1  dematin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    49. NM_001387754.1 → NP_001374683.1  dematin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS78311.1
      Conserved Domains (2) summary
      smart00153
      Location:330 → 365
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 329
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    50. NM_001387755.1 → NP_001374684.1  dematin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47820.1
      Conserved Domains (2) summary
      smart00153
      Location:348 → 383
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 347
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    51. NM_001387756.1 → NP_001374685.1  dematin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47821.1
      Conserved Domains (2) summary
      smart00153
      Location:323 → 358
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    52. NM_001387757.1 → NP_001374686.1  dematin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC091171
      Consensus CDS
      CCDS47821.1
      Conserved Domains (2) summary
      smart00153
      Location:323 → 358
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 322
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    53. NM_001978.5 → NP_001969.2  dematin isoform 1

      See identical proteins and their annotated locations for NP_001969.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
      Source sequence(s)
      AC091171, BC006318, BC052805, BI222385, DA170493, DA261872, DA267327
      Consensus CDS
      CCDS6020.1
      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
      Related
      ENSP00000427866.1, ENST00000523266.5
      Conserved Domains (2) summary
      smart00153
      Location:370 → 405
      VHP; Villin headpiece domain
      pfam16182
      Location:8 → 369
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22048931..22082525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421498.1 → XP_047277454.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    2. XM_047421497.1 → XP_047277453.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    3. XM_047421502.1 → XP_047277458.1  dematin isoform X3

    4. XM_047421500.1 → XP_047277456.1  dematin isoform X2

    5. XM_047421504.1 → XP_047277460.1  dematin isoform X4

    6. XM_047421510.1 → XP_047277466.1  dematin isoform X6

    7. XM_047421508.1 → XP_047277464.1  dematin isoform X5

    8. XM_047421496.1 → XP_047277452.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    9. XM_047421503.1 → XP_047277459.1  dematin isoform X3

    10. XM_047421501.1 → XP_047277457.1  dematin isoform X2

    11. XM_047421505.1 → XP_047277461.1  dematin isoform X4

    12. XM_047421511.1 → XP_047277467.1  dematin isoform X6

    13. XM_047421509.1 → XP_047277465.1  dematin isoform X5

    14. XM_047421507.1 → XP_047277463.1  dematin isoform X4

    15. XM_047421499.1 → XP_047277455.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    16. XM_047421506.1 → XP_047277462.1  dematin isoform X4

    17. XM_017013194.2 → XP_016868683.1  dematin isoform X5

      UniProtKB/Swiss-Prot
      Q08495
      Conserved Domains (2) summary
      smart00153
      Location:330 → 365
      VHP; Villin headpiece domain
      pfam16182
      Location:7 → 329
      AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22322887..22356487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360013.1 → XP_054215988.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    2. XM_054360012.1 → XP_054215987.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    3. XM_054360017.1 → XP_054215992.1  dematin isoform X3

    4. XM_054360015.1 → XP_054215990.1  dematin isoform X2

    5. XM_054360019.1 → XP_054215994.1  dematin isoform X4

    6. XM_054360026.1 → XP_054216001.1  dematin isoform X6

    7. XM_054360023.1 → XP_054215998.1  dematin isoform X5

    8. XM_054360011.1 → XP_054215986.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    9. XM_054360018.1 → XP_054215993.1  dematin isoform X3

    10. XM_054360016.1 → XP_054215991.1  dematin isoform X2

    11. XM_054360020.1 → XP_054215995.1  dematin isoform X4

    12. XM_054360027.1 → XP_054216002.1  dematin isoform X6

    13. XM_054360024.1 → XP_054215999.1  dematin isoform X5

    14. XM_054360022.1 → XP_054215997.1  dematin isoform X4

    15. XM_054360014.1 → XP_054215989.1  dematin isoform X1

      UniProtKB/Swiss-Prot
      A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

    16. XM_054360021.1 → XP_054215996.1  dematin isoform X4

    17. XM_054360025.1 → XP_054216000.1  dematin isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08495.3 GenPept UniProtKB/Swiss-Prot:Q08495

    Gene LinkOut

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