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

    Gene ID: 88455, updated on 17-Jun-2024

    Summary

    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-dependent protein binding 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, Apr 2022]
    Expression
    Broad expression in testis (RPKM 37.6), lymph node (RPKM 31.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKRD13A in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109999213..110039763)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109974902..110015456)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_033121.2NP_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:4071
      ANK; ANK repeat [structural motif]
      pfam11904
      Location:156469
      GPCR_chapero_1; GPCR-chaperone
      pfam12796
      Location:1396
      Ank_2; Ankyrin repeats (3 copies)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005253984.2XP_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:68382
      GPCR_chapero_1; GPCR-chaperone
    2. XM_005253980.4XP_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:4071
      ANK; ANK repeat [structural motif]
      pfam11904
      Location:156470
      GPCR_chapero_1; GPCR-chaperone
      pfam12796
      Location:1396
      Ank_2; Ankyrin repeats (3 copies)
    3. XM_005253981.4XP_005254038.1  ankyrin repeat domain-containing protein 13A isoform X2

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (4) summary
      cd00204
      Location:4101
      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:156469
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:4190
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4071
      ANK; ANK repeat [structural motif]
    4. XM_005253982.4XP_005254039.1  ankyrin repeat domain-containing protein 13A isoform X3

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (4) summary
      cd00204
      Location:4101
      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:156468
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:4190
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4071
      ANK; ANK repeat [structural motif]
    5. XM_017020162.2XP_016875651.1  ankyrin repeat domain-containing protein 13A isoform X7

      Conserved Domains (2) summary
      sd00045
      Location:4071
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:4190
      Ank_4; Ankyrin repeats (many copies)
    6. XM_011538937.2XP_011537239.1  ankyrin repeat domain-containing protein 13A isoform X4

      UniProtKB/TrEMBL
      B4DYP5
      Conserved Domains (4) summary
      cd00204
      Location:4101
      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:134422
      GPCR_chapero_1; GPCR-chaperone
      pfam13637
      Location:4190
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4071
      ANK; ANK repeat [structural motif]
    7. XM_047429810.1XP_047285766.1  ankyrin repeat domain-containing protein 13A isoform X5

      UniProtKB/TrEMBL
      B4DYP5
    8. XM_047429811.1XP_047285767.1  ankyrin repeat domain-containing protein 13A isoform X8

      UniProtKB/TrEMBL
      B4DDL0

    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_054373723.1XP_054229698.1  ankyrin repeat domain-containing protein 13A isoform X6

      UniProtKB/TrEMBL
      B4DDL0
    2. XM_054373718.1XP_054229693.1  ankyrin repeat domain-containing protein 13A isoform X1

      UniProtKB/TrEMBL
      B4DYP5
    3. XM_054373719.1XP_054229694.1  ankyrin repeat domain-containing protein 13A isoform X2

      UniProtKB/TrEMBL
      B4DYP5
    4. XM_054373720.1XP_054229695.1  ankyrin repeat domain-containing protein 13A isoform X3

      UniProtKB/TrEMBL
      B4DYP5
    5. XM_054373724.1XP_054229699.1  ankyrin repeat domain-containing protein 13A isoform X7

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

      UniProtKB/TrEMBL
      B4DYP5
    7. XM_054373722.1XP_054229697.1  ankyrin repeat domain-containing protein 13A isoform X5

      UniProtKB/TrEMBL
      B4DYP5
    8. XM_054373725.1XP_054229700.1  ankyrin repeat domain-containing protein 13A isoform X8

      UniProtKB/TrEMBL
      B4DDL0

    RNA

    1. XR_008488707.1 RNA Sequence

    2. XR_008488709.1 RNA Sequence

    3. XR_008488708.1 RNA Sequence