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ANKRD13C ankyrin repeat domain 13C [ Homo sapiens (human) ]

Gene ID: 81573, updated on 5-Mar-2024

Summary

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Official Symbol
ANKRD13Cprovided by HGNC
Official Full Name
ankyrin repeat domain 13Cprovided by HGNC
Primary source
HGNC:HGNC:25374
See related
Ensembl:ENSG00000118454 MIM:615125; AllianceGenome:HGNC:25374
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
dJ677H15.3
Summary
Enables signaling receptor binding activity. Involved in protein retention in ER lumen; regulation of anoikis; and regulation of signaling receptor activity. Located in perinuclear region of cytoplasm. Colocalizes with endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 5.7), endometrium (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p31.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (70258999..70354722, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (70137523..70233231, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (70724682..70820405, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 40 Neighboring gene RNA, 7SL, cytoplasmic 242, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1187 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:70686957-70687502 Neighboring gene serine and arginine rich splicing factor 11 Neighboring gene MPRA-validated peak281 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:70818812-70820011 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:70820190-70821107 Neighboring gene ANKRD13C divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1193 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:70826052-70826245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:70833556-70834402 Neighboring gene long intergenic non-protein coding RNA 3102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:70837138-70838020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:70838021-70838902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1195 Neighboring gene cystathionine gamma-lyase

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. Inverse agonist and pharmacochaperone properties of MK-0524 on the prostanoid DP1 receptor. Labrecque P, et al. PLoS One, 2013. PMID 23762421, Free PMC Article
  2. ANKRD13C acts as a molecular chaperone for G protein-coupled receptors. Parent A, et al. J Biol Chem, 2010 Dec 24. PMID 20959461, Free PMC Article
  3. HIV latency. Proliferation of cells with HIV integrated into cancer genes contributes to persistent infection. Wagner TA, et al. Science, 2014 Aug 1. PMID 25011556, Free PMC Article
  4. HIV/AIDS. Persistence by proliferation? Margolis D, et al. Science, 2014 Jul 11. PMID 25013050
  5. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that ANKRD13C gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with ANKRD13C 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

  • FLJ14998, DKFZp566D1346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein retention in ER lumen IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein retention in ER lumen IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of anoikis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of signaling receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 13C

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_030816.5 → NP_110443.3  ankyrin repeat domain-containing protein 13C

    See identical proteins and their annotated locations for NP_110443.3

    Status: VALIDATED

    Source sequence(s)
    AL136717, AL353771, BC028840, BU622247, CD000035, CK299538
    Consensus CDS
    CCDS648.2
    UniProtKB/Swiss-Prot
    B3KQ97, Q5VYH4, Q5VYH5, Q6PJE4, Q8N6S4, Q9H0N9
    Related
    ENSP00000359982.4, ENST00000370944.9
    Conserved Domains (5) summary
    cd00204
    Location:113 → 199
    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:259 → 532
    GPCR_chapero_1; GPCR-chaperone
    pfam12796
    Location:148 → 223
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:115 → 164
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:115 → 141
    ANK; ANK repeat [structural motif]

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    70258999..70354722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431282.1 → XP_047287238.1  ankyrin repeat domain-containing protein 13C isoform X7

  2. XM_047431278.1 → XP_047287234.1  ankyrin repeat domain-containing protein 13C isoform X5

  3. XM_047431276.1 → XP_047287232.1  ankyrin repeat domain-containing protein 13C isoform X1

  4. XM_005271235.4 → XP_005271292.1  ankyrin repeat domain-containing protein 13C isoform X6

    Conserved Domains (5) summary
    cd00204
    Location:113 → 199
    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:259 → 426
    GPCR_chapero_1; GPCR-chaperone
    pfam12796
    Location:148 → 223
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:115 → 164
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:115 → 141
    ANK; ANK repeat [structural motif]

  5. XM_005271234.4 → XP_005271291.1  ankyrin repeat domain-containing protein 13C isoform X4

    Conserved Domains (5) summary
    cd00204
    Location:113 → 199
    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:259 → 464
    GPCR_chapero_1; GPCR-chaperone
    pfam12796
    Location:148 → 223
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:115 → 164
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:115 → 141
    ANK; ANK repeat [structural motif]

  6. XM_047431283.1 → XP_047287239.1  ankyrin repeat domain-containing protein 13C isoform X8

  7. XM_047431277.1 → XP_047287233.1  ankyrin repeat domain-containing protein 13C isoform X3

  8. XM_006710929.4 → XP_006710992.1  ankyrin repeat domain-containing protein 13C isoform X2

    Related
    ENSP00000262346.6, ENST00000262346.6
    Conserved Domains (5) summary
    cd00204
    Location:113 → 199
    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:259 → 498
    GPCR_chapero_1; GPCR-chaperone
    pfam12796
    Location:148 → 223
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:115 → 164
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:115 → 141
    ANK; ANK repeat [structural motif]

  9. XM_047431285.1 → XP_047287241.1  ankyrin repeat domain-containing protein 13C isoform X10

  10. XM_047431284.1 → XP_047287240.1  ankyrin repeat domain-containing protein 13C isoform X9

RNA

  1. XR_007064007.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    70137523..70233231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338905.1 → XP_054194880.1  ankyrin repeat domain-containing protein 13C isoform X7

  2. XM_054338903.1 → XP_054194878.1  ankyrin repeat domain-containing protein 13C isoform X5

  3. XM_054338899.1 → XP_054194874.1  ankyrin repeat domain-containing protein 13C isoform X1

  4. XM_054338904.1 → XP_054194879.1  ankyrin repeat domain-containing protein 13C isoform X6

  5. XM_054338902.1 → XP_054194877.1  ankyrin repeat domain-containing protein 13C isoform X4

  6. XM_054338906.1 → XP_054194881.1  ankyrin repeat domain-containing protein 13C isoform X8

  7. XM_054338901.1 → XP_054194876.1  ankyrin repeat domain-containing protein 13C isoform X3

  8. XM_054338900.1 → XP_054194875.1  ankyrin repeat domain-containing protein 13C isoform X2

  9. XM_054338908.1 → XP_054194883.1  ankyrin repeat domain-containing protein 13C isoform X10

  10. XM_054338907.1 → XP_054194882.1  ankyrin repeat domain-containing protein 13C isoform X9

RNA

  1. XR_008486170.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6S4.2 GenPept UniProtKB/Swiss-Prot:Q8N6S4

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