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    ANKRD13A ankyrin repeat domain 13A [ Homo sapiens (human) ]

    Gene ID: 88455, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ANKRD13Aprovided by HGNC
    Official Full Name
    ankyrin repeat domain 13Aprovided by HGNC
    Primary source
    HGNC:HGNC:21268
    See related
    Ensembl:ENSG00000076513 MIM:615123; AllianceGenome:HGNC:21268
    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
    ANKRD13; NY-REN-25
    Summary
    Enables ubiquitin-modified protein reader activity. Involved in negative regulation of protein localization to endosome and negative regulation of receptor internalization. Located in late endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 37.6), lymph node (RPKM 31.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD13A in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109999213..110039763)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109974902..110015456)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110437235..110477568)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903012 Neighboring gene NANOG hESC enhancer GRCh37_chr12:110318928-110319429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4847 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110337802-110338642 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:110338643-110339483 Neighboring gene trichoplein keratin filament binding Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110353916-110354160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110358257-110358757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110361416-110362271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110362776-110363756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110363757-110364736 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110370433-110371632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110384533-110385204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110385205-110385876 Neighboring gene GIT ArfGAP 2 Neighboring gene uncharacterized LOC124903013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6990 Neighboring gene Sharpr-MPRA regulatory region 2512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6991 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110460576-110461076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6992 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:110465819-110467018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110480304-110480817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6993 Neighboring gene chromosome 12 open reading frame 76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6995 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3588 Neighboring gene uncharacterized LOC105369976 Neighboring gene Sharpr-MPRA regulatory region 13461

    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. miR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration. Avellino R, et al. PLoS One, 2013. PMID 23620728, Free PMC Article
    2. LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia cells by cis-regulating USP30 and ANKRD13A. Zhou W, et al. Hum Cell, 2022 Jan. PMID 34694569, Free PMC Article
    3. Systems-wide analysis of BCR signalosomes and downstream phosphorylation and ubiquitylation. Satpathy S, et al. Mol Syst Biol, 2015 Jun 2. PMID 26038114, Free PMC Article
    4. The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1. Burana D, et al. J Biol Chem, 2016 Mar 18. PMID 26797118, Free PMC Article
    5. The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane. Tanno H, et al. Mol Biol Cell, 2012 Apr. PMID 22298428, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ANKRD13a controls early cell-death checkpoint by interacting with RIP1 independent of NF-kappaB.
      Title: ANKRD13a controls early cell-death checkpoint by interacting with RIP1 independent of NF-κB.
    2. LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia cells by cis-regulating USP30 and ANKRD13A.
      Title: LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia cells by cis-regulating USP30 and ANKRD13A.
    3. The Ankrd13 family of ubiquitin-interacting motif (UIM)-containing proteins are novel VCP-interacting molecules in the endosome.
      Title: The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1.
    4. We validated ANKRD13A as a novel constituent of BCR signalosome and showed that BCR-induced phosphorylation of RAB7A at S72 regulates its association with its effector proteins and with endo-lysosomal compartments.
      Title: Systems-wide analysis of BCR signalosomes and downstream phosphorylation and ubiquitylation.
    5. the microRNA miR-204 promotes both mesenchymal neural crest and lens cell migration and elongation by the direct targeting of the Ankrd13A gene.
      Title: miR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration.
    6. overexpression of wild-type as well as truncated-mutant Ankrd 13A, 13B and 13D proteins strongly inhibited rapid endocytosis of ubiquitinated EGFR from the surface in EGF-treated cells
      Title: The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane.
    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 of monoamine metabolite levels in human cerebrospinal fluid.
    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
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with ankyrin repeat domain 13A (ANKRD13A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin-modified protein reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-modified protein reader activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of protein localization to endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 13A
    Names
    NY-REN-25 antigen

    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_033121.2 → NP_149112.1  ankyrin repeat domain-containing protein 13A

      See identical proteins and their annotated locations for NP_149112.1

      Status: VALIDATED

      Source sequence(s)
      AC007546, AF155103, BC032833, BC057817
      Consensus CDS
      CCDS9140.1
      UniProtKB/Swiss-Prot
      O60736, Q8IZ07
      UniProtKB/TrEMBL
      B4DYP5, Q3ZTS7
      Related
      ENSP00000261739.4, ENST00000261739.9
      Conserved Domains (3) summary
      sd00045
      Location:40 → 71
      ANK; ANK repeat [structural motif]
      pfam11904
      Location:156 → 469
      GPCR_chapero_1; GPCR-chaperone
      pfam12796
      Location:13 → 96
      Ank_2; Ankyrin repeats (3 copies)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      109999213..110039763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253984.2 → XP_005254041.1  ankyrin repeat domain-containing protein 13A isoform X6

      See identical proteins and their annotated locations for XP_005254041.1

      UniProtKB/TrEMBL
      B4DDL0
      Conserved Domains (1) summary
      pfam11904
      Location:68 → 382
      GPCR_chapero_1; GPCR-chaperone

    2. XM_005253980.4 → XP_005254037.1  ankyrin repeat domain-containing protein 13A isoform X1

      See identical proteins and their annotated locations for XP_005254037.1

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (3) summary
      sd00045
      Location:40 → 71
      ANK; ANK repeat [structural motif]
      pfam11904
      Location:156 → 470
      GPCR_chapero_1; GPCR-chaperone
      pfam12796
      Location:13 → 96
      Ank_2; Ankyrin repeats (3 copies)

    3. XM_005253981.4 → XP_005254038.1  ankyrin repeat domain-containing protein 13A isoform X2

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (4) summary
      cd00204
      Location:4 → 101
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam11904
      Location:156 → 469
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:41 → 90
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:40 → 71
      ANK; ANK repeat [structural motif]

    4. XM_005253982.4 → XP_005254039.1  ankyrin repeat domain-containing protein 13A isoform X3

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (4) summary
      cd00204
      Location:4 → 101
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam11904
      Location:156 → 468
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:41 → 90
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:40 → 71
      ANK; ANK repeat [structural motif]

    5. XM_017020162.2 → XP_016875651.1  ankyrin repeat domain-containing protein 13A isoform X7

      Conserved Domains (2) summary
      sd00045
      Location:40 → 71
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:41 → 90
      Ank_4; Ankyrin repeats (many copies)

    6. XM_011538937.2 → XP_011537239.1  ankyrin repeat domain-containing protein 13A isoform X4

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (4) summary
      cd00204
      Location:4 → 101
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam11904
      Location:134 → 422
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:41 → 90
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:40 → 71
      ANK; ANK repeat [structural motif]

    7. XM_047429810.1 → XP_047285766.1  ankyrin repeat domain-containing protein 13A isoform X5

    8. XM_047429811.1 → XP_047285767.1  ankyrin repeat domain-containing protein 13A isoform X8

    RNA

    1. XR_944812.4 RNA Sequence

    2. XR_007063142.1 RNA Sequence

    3. XR_007063141.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      109974902..110015456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373723.1 → XP_054229698.1  ankyrin repeat domain-containing protein 13A isoform X6

    2. XM_054373718.1 → XP_054229693.1  ankyrin repeat domain-containing protein 13A isoform X1

    3. XM_054373719.1 → XP_054229694.1  ankyrin repeat domain-containing protein 13A isoform X2

    4. XM_054373720.1 → XP_054229695.1  ankyrin repeat domain-containing protein 13A isoform X3

    5. XM_054373724.1 → XP_054229699.1  ankyrin repeat domain-containing protein 13A isoform X7

    6. XM_054373721.1 → XP_054229696.1  ankyrin repeat domain-containing protein 13A isoform X4

    7. XM_054373722.1 → XP_054229697.1  ankyrin repeat domain-containing protein 13A isoform X5

    8. XM_054373725.1 → XP_054229700.1  ankyrin repeat domain-containing protein 13A isoform X8

    RNA

    1. XR_008488707.1 RNA Sequence

    2. XR_008488709.1 RNA Sequence

    3. XR_008488708.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ07.3 GenPept UniProtKB/Swiss-Prot:Q8IZ07

    Gene LinkOut

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

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