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

    Gene ID: 81573, updated on 27-Nov-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 endoplasmic reticulum and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.7), endometrium (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD13C in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (70258999..70354722, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (70137523..70233231, complement)
    RS_2024_09 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

    Expression

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    • 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

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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)

    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_2024_08

    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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