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    MKLN1 muskelin 1 [ Homo sapiens (human) ]

    Gene ID: 4289, updated on 31-Mar-2024

    Summary

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    Official Symbol
    MKLN1provided by HGNC
    Official Full Name
    muskelin 1provided by HGNC
    Primary source
    HGNC:HGNC:7109
    See related
    Ensembl:ENSG00000128585 MIM:605623; AllianceGenome:HGNC:7109
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TWA2
    Summary
    Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q32.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (131110094..131496632)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (132427607..132814224)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130794853..131181391)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA, p53 induced transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:130597482-130598681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18651 Neighboring gene long intergenic non-protein coding RNA 513 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:130635654-130635822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26659 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130644756-130645955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26664 Neighboring gene Sharpr-MPRA regulatory region 13565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26667 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130729465 Neighboring gene Sharpr-MPRA regulatory region 6658 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130743720 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130743868 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 7:130744026 and 7:130744055 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130746088 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130750088 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130751320 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130751957 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130754812 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130757740 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130758576 Neighboring gene RNA, U6 small nuclear 1010, pseudogene Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130763709 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:130775512-130776367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:130792685-130793536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18658 Neighboring gene MKLN1 intron CAGE-defined mid-level expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18660 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130848608-130849807 Neighboring gene MPRA-validated peak6722 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130872973-130874172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130875573-130876331 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130880490 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130888388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26673 Neighboring gene MPRA-validated peak6724 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26675 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130929013-130929606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130930791-130931382 Neighboring gene ribosomal protein L27 pseudogene 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131012400-131012976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131012977-131013553 Neighboring gene uncharacterized LOC124901747 Neighboring gene MKLN1 antisense RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr7:131070963-131071136 Neighboring gene MPRA-validated peak6726 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:131123760-131124261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131190418-131191332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18662 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131198033-131198892 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:131202395-131202894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131214845-131215344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131220834-131221758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131229138-131229981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131235953-131236460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131236969-131237476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18664 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131241775-131242322 Neighboring gene ribosomal protein L31 pseudogene 36 Neighboring gene podocalyxin like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131266468-131267072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:131269032-131269532 Neighboring gene MPRA-validated peak6728 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131277274-131277774 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131289409-131290262 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131290263-131291118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131291119-131291972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131305309-131305854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131308691-131309358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131309359-131310024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131323052-131323648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:131333987-131334690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131337191-131337758 Neighboring gene Sharpr-MPRA regulatory regions 8940 and 15248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131340839-131341390 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model. Nassan M, et al. J Affect Disord, 2017 Jan 15. PMID 27769005
    2. CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis. Xu L, et al. Curr Eye Res, 2021 Nov. PMID 33988065
    3. Molecular analysis of muskelin identifies a conserved discoidin-like domain that contributes to protein self-association. Prag S, et al. Biochem J, 2004 Jul 15. PMID 15084145, Free PMC Article
    4. Receptor isoform-specific interaction of prostaglandin EP3 receptor with muskelin. Hasegawa H, et al. Biochem Biophys Res Commun, 2000 Sep 16. PMID 11006128
    5. cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH. Adams JC, et al. Cytogenet Cell Genet, 1999. PMID 10640805

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
      Title: Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
    2. The circRNA MKLN1 regulates autophagy in the development of diabetic retinopathy.
      Title: The circRNA MKLN1 regulates autophagy in the development of diabetic retinopathy.
    3. CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis.
      Title: CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis.
    4. GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
      Title: GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
    5. A meta-analysis genome wide association study suggest MKLN1 is associated with early-onset bipolar disorder.
      Title: A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. These novel findings identify a role for muskelin-RanBP9 complex in pathways that integrate cell morphology regulation and nucleocytoplasmic communication.
      Title: Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation.
    8. RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells
      Title: RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    EBI GWAS Catalog
    Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
    EBI GWAS Catalog
    Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
    EBI GWAS Catalog

    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

    • FLJ11162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of receptor internalization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    muskelin
    Names
    muskelin 1, intracellular mediator containing kelch motifs

    NCBI Reference Sequences (RefSeq)

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    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_001145354.2 → NP_001138826.1  muskelin isoform 1

      See identical proteins and their annotated locations for NP_001138826.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC008264, AC009783, AC013434, AI928463, AK294384, BC002834
      UniProtKB/TrEMBL
      B4DG30
      Conserved Domains (4) summary
      sd00038
      Location:248 → 300
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:433 → 470
      Kelch_1; Kelch motif
      pfam06588
      Location:11 → 184
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:259 → 311
      Kelch_3; Galactose oxidase, central domain

    2. NM_001321316.2 → NP_001308245.1  muskelin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008264, AC009783, AK002024, DA172589
      UniProtKB/Swiss-Prot
      Q9UL63
      Conserved Domains (3) summary
      sd00038
      Location:64 → 116
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:249 → 286
      Kelch_1; Kelch motif
      pfam13415
      Location:75 → 127
      Kelch_3; Galactose oxidase, central domain

    3. NM_013255.5 → NP_037387.2  muskelin isoform 2

      See identical proteins and their annotated locations for NP_037387.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC008264, AC009783, AI928463, AK294384, BC002834, BC067825, DA172589
      Consensus CDS
      CCDS34754.1
      UniProtKB/Swiss-Prot
      A4D1M8, A6NG43, Q9NSK4, Q9NUS8, Q9UL63
      Related
      ENSP00000323527.6, ENST00000352689.11
      Conserved Domains (4) summary
      sd00038
      Location:271 → 323
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:12 → 207
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:282 → 334
      Kelch_3; Galactose oxidase, central domain
      cl26061
      Location:307 → 475
      PLN02193; nitrile-specifier protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      131110094..131496632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420401.1 → XP_047276357.1  muskelin isoform X2

    2. XM_006715993.4 → XP_006716056.1  muskelin isoform X1

      Conserved Domains (4) summary
      sd00038
      Location:271 → 323
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:456 → 493
      Kelch_1; Kelch motif
      pfam06588
      Location:12 → 207
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:282 → 334
      Kelch_3; Galactose oxidase, central domain

    3. XM_011516224.4 → XP_011514526.1  muskelin isoform X3

      Conserved Domains (4) summary
      smart00668
      Location:206 → 258
      CTLH; C-terminal to LisH motif
      sd00038
      Location:271 → 323
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:12 → 207
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:282 → 334
      Kelch_3; Galactose oxidase, central domain

    4. XM_047420402.1 → XP_047276358.1  muskelin isoform X4

      UniProtKB/TrEMBL
      C9J7E8
      Related
      ENSP00000398094.2, ENST00000421797.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      132427607..132814224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358258.1 → XP_054214233.1  muskelin isoform X2

    2. XM_054358257.1 → XP_054214232.1  muskelin isoform X1

    3. XM_054358259.1 → XP_054214234.1  muskelin isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL63.2 GenPept UniProtKB/Swiss-Prot:Q9UL63

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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