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

Gene ID: 88455, updated on 7-Aug-2022

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
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Genomic context

See ANKRD13A in Genome Data Viewer
Location:
12q24.11
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109999213..110039763)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109975119..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 trichoplein keratin filament binding Neighboring gene GIT ArfGAP 2 Neighboring gene uncharacterized LOC124903013 Neighboring gene Sharpr-MPRA regulatory region 2512 Neighboring gene chromosome 12 open reading frame 76 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3588

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquitin-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-dependent protein binding 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
PubMed 
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)

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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_033121.2NP_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
    Q3ZTS7, Q9Y5A3
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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

    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

    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

    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

    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

  8. XM_047429811.1XP_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
    109975119..110015456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)