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    AHNAK AHNAK nucleoprotein [ Homo sapiens (human) ]

    Gene ID: 79026, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AHNAKprovided by HGNC
    Official Full Name
    AHNAK nucleoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:347
    See related
    Ensembl:ENSG00000124942 MIM:103390; AllianceGenome:HGNC:347
    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
    PM227; AHNAK1; AHNAKRS
    Summary
    The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AHNAK in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62433544..62546806, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62422994..62537374, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62201016..62314278, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene asparaginase and isoaspartyl peptidase 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62149617-62150182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62150183-62150748 Neighboring gene regulator of chromosome condensation 2 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62164057-62164558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62164559-62165058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62165726-62166370 Neighboring gene uncharacterized LOC102723765 Neighboring gene Sharpr-MPRA regulatory region 15173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62193633-62194180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62201545-62202046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62202047-62202546 Neighboring gene secretoglobin family 1A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4817 Neighboring gene Sharpr-MPRA regulatory region 7741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62273135-62273882 Neighboring gene Sharpr-MPRA regulatory region 266 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:62302796-62303995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62306574-62307176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62307177-62307777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62312785-62313295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62313296-62313806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3415 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62314385-62314915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62318643-62319448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62319449-62320254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62323477-62324282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62324283-62325086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62325319-62325834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62326954-62327496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4824 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62329123-62329665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62341487-62342448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62342449-62343410 Neighboring gene eukaryotic translation elongation factor 1 gamma Neighboring gene microRNA 6747 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62358805-62359500 Neighboring gene terminal uridylyl transferase 1, U6 snRNA-specific

    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. A human gene (AHNAK) encoding an unusually large protein with a 1.2-microns polyionic rod structure. Shtivelman E, et al. Proc Natl Acad Sci U S A, 1992 Jun 15. PMID 1608957, Free PMC Article
    2. Doxorubicin resistance in breast cancer: A novel role for the human protein AHNAK. Davis T, et al. Biochem Pharmacol, 2018 Feb. PMID 29309757
    3. AHNAK suppresses ovarian cancer progression through the Wnt/β-catenin signaling pathway. Cai Y, et al. Aging (Albany NY), 2021 Oct 23. PMID 34689136, Free PMC Article
    4. The carboxyl-terminal region of ahnak provides a link between cardiac L-type Ca2+ channels and the actin-based cytoskeleton. Hohaus A, et al. FASEB J, 2002 Aug. PMID 12153988
    5. Peptide Derived from AHNAK Inhibits Cell Migration and Proliferation in Hirschsprung's Disease by Targeting the ERK1/2 Pathway. Li Y, et al. J Proteome Res, 2021 May 7. PMID 33853325

    See all (243) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing AHNAK promotes nasopharyngeal carcinoma progression by upregulating the ANXA2 protein.
      Title: Silencing AHNAK promotes nasopharyngeal carcinoma progression by upregulating the ANXA2 protein.
    2. Identification of AHNAK expression associated with the pathogenesis of chronic obstructive pulmonary disease by bioinformatic analysis.
      Title: Identification of AHNAK expression associated with the pathogenesis of chronic obstructive pulmonary disease by bioinformatic analysis.
    3. Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy.
      Title: Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy.
    4. AHNAK suppresses ovarian cancer progression through the Wnt/beta-catenin signaling pathway.
      Title: AHNAK suppresses ovarian cancer progression through the Wnt/β-catenin signaling pathway.
    5. Downregulation of Circ_0088196 Contributes to the Development of Trophoblastic Cells through miR-133b Sponging Function to Affect the AHNAK Expression.
      Title: Downregulation of Circ_0088196 Contributes to the Development of Trophoblastic Cells through miR-133b Sponging Function to Affect the AHNAK Expression.
    6. CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.
      Title: CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.
    7. Identification of distinct genomic features reveals frequent somatic AHNAK and PTEN mutations predominantly in primary malignant melanoma presenting in the ureter.
      Title: Identification of distinct genomic features reveals frequent somatic AHNAK and PTEN mutations predominantly in primary malignant melanoma presenting in the ureter.
    8. Annexin A2 and Ahnak control cortical NuMA-dynein localization and mitotic spindle orientation.
      Title: Annexin A2 and Ahnak control cortical NuMA-dynein localization and mitotic spindle orientation.
    9. Interaction between TMEFF1 and AHNAK proteins in ovarian cancer cells: Implications for clinical prognosis.
      Title: Interaction between TMEFF1 and AHNAK proteins in ovarian cancer cells: Implications for clinical prognosis.
    10. Identification of pannexin 1-regulated genes, interactome, and pathways in rhabdomyosarcoma and its tumor inhibitory interaction with AHNAK.
      Title: Identification of pannexin 1-regulated genes, interactome, and pathways in rhabdomyosarcoma and its tumor inhibitory interaction with AHNAK.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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 analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated neuroblast differentiation-associated protein AHNAK is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5395

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables S100 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity conferring elasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of plasma membrane repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in T-tubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in costamere IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in costamere ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in focal adhesion HDA PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    colocalizes_with membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of plasma membrane protein complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    neuroblast differentiation-associated protein AHNAK
    Names
    AHNAK-related
    desmoyokin

    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.

    Genomic

    1. NG_051822.1 RefSeqGene

      Range
      5055..35959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346445.2 → NP_001333374.1  neuroblast differentiation-associated protein AHNAK isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AP001363, BP358907
      Consensus CDS
      CCDS31584.1
      UniProtKB/Swiss-Prot
      A1A586, Q09666
      Conserved Domains (2) summary
      COG2911
      Location:4726 → 5622
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      cl00117
      Location:22 → 90
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    2. NM_001346446.2 → NP_001333375.1  neuroblast differentiation-associated protein AHNAK isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AP001363, BP359022
      Consensus CDS
      CCDS31584.1
      UniProtKB/Swiss-Prot
      A1A586, Q09666
      Conserved Domains (2) summary
      COG2911
      Location:4726 → 5622
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      cl00117
      Location:22 → 90
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    3. NM_001620.3 → NP_001611.1  neuroblast differentiation-associated protein AHNAK isoform 1

      See identical proteins and their annotated locations for NP_001611.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as L-AHNAK) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK300376, AP001363, BE873999
      Consensus CDS
      CCDS31584.1
      UniProtKB/Swiss-Prot
      A1A586, Q09666
      Related
      ENSP00000367263.4, ENST00000378024.9
      Conserved Domains (2) summary
      COG2911
      Location:4726 → 5622
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      cl00117
      Location:22 → 90
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    4. NM_024060.4 → NP_076965.2  neuroblast differentiation-associated protein AHNAK isoform 2

      See identical proteins and their annotated locations for NP_076965.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as S-AHNAK) uses alternate 3' exons, compared to variant 1, resulting in a shorter isoform (2) with a unique C-terminus compared to isoform 1.
      Source sequence(s)
      BC000926, BC128460, CN482151
      Consensus CDS
      CCDS44625.1
      UniProtKB/TrEMBL
      Q9BVU3
      Related
      ENSP00000257247.7, ENST00000257247.11
      Conserved Domains (1) summary
      cl00117
      Location:22 → 90
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62433544..62546806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018270.2 → XP_016873759.1  neuroblast differentiation-associated protein AHNAK isoform X2

    2. XM_047427577.1 → XP_047283533.1  neuroblast differentiation-associated protein AHNAK isoform X1

      UniProtKB/Swiss-Prot
      A1A586, Q09666

    3. XM_047427575.1 → XP_047283531.1  neuroblast differentiation-associated protein AHNAK isoform X1

      UniProtKB/Swiss-Prot
      A1A586, Q09666

    4. XM_047427576.1 → XP_047283532.1  neuroblast differentiation-associated protein AHNAK isoform X1

      UniProtKB/Swiss-Prot
      A1A586, Q09666

    5. XM_047427574.1 → XP_047283530.1  neuroblast differentiation-associated protein AHNAK isoform X1

      UniProtKB/Swiss-Prot
      A1A586, Q09666

    6. XM_047427573.1 → XP_047283529.1  neuroblast differentiation-associated protein AHNAK isoform X1

      UniProtKB/Swiss-Prot
      A1A586, Q09666

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62422994..62537374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369920.1 → XP_054225895.1  neuroblast differentiation-associated protein AHNAK isoform X3

    2. XM_054369919.1 → XP_054225894.1  neuroblast differentiation-associated protein AHNAK isoform X3

    3. XM_054369918.1 → XP_054225893.1  neuroblast differentiation-associated protein AHNAK isoform X2

    4. XM_054369911.1 → XP_054225886.1  neuroblast differentiation-associated protein AHNAK isoform X1

    5. XM_054369917.1 → XP_054225892.1  neuroblast differentiation-associated protein AHNAK isoform X1

    6. XM_054369915.1 → XP_054225890.1  neuroblast differentiation-associated protein AHNAK isoform X1

    7. XM_054369913.1 → XP_054225888.1  neuroblast differentiation-associated protein AHNAK isoform X1

    8. XM_054369916.1 → XP_054225891.1  neuroblast differentiation-associated protein AHNAK isoform X1

    9. XM_054369914.1 → XP_054225889.1  neuroblast differentiation-associated protein AHNAK isoform X1

    10. XM_054369912.1 → XP_054225887.1  neuroblast differentiation-associated protein AHNAK isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09666.2 GenPept UniProtKB/Swiss-Prot:Q09666

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