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TBC1D3C TBC1 domain family member 3C [ Homo sapiens (human) ]

Gene ID: 414060, updated on 3-Apr-2024

Summary

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Official Symbol
TBC1D3Cprovided by HGNC
Official Full Name
TBC1 domain family member 3Cprovided by HGNC
Primary source
HGNC:HGNC:24889
See related
Ensembl:ENSG00000278299 MIM:610806; AllianceGenome:HGNC:24889
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRC17; TBC1D3; TBC1D3A; TBC1D3D
Summary
This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]
Expression
Broad expression in testis (RPKM 17.2), skin (RPKM 10.9) and 24 other tissues See more
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Genomic context

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Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38057693..38070301, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 3D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36339535-36340036 Neighboring gene uncharacterized LOC102723819 Neighboring gene puromycin-sensitive aminopeptidase-like protein Neighboring gene uncharacterized LOC102723851 Neighboring gene TBC1 domain family member 3E

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_000017.11 Chromosome 17 Reference GRCh38.p14 Primary Assembly

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. The Tre2 (USP6) oncogene is a hominoid-specific gene. Paulding CA, et al. Proc Natl Acad Sci U S A, 2003 Mar 4. PMID 12604796, Free PMC Article
  2. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688
  3. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
  4. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
  5. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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 (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Clone Names

  • FLJ78248, FLJ93850, MGC44903, MGC87893, DKFZp434P2235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
TBC1 domain family member 3C
Names
Prostate cancer gene 17 protein
Protein TRE17-alpha
Rab GTPase-activating protein PRC17
TBC1 domain family member 3
TBC1 domain family member 3C-like protein ENSP00000341742
TBC1 domain family member 3C/3D

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_001001418.6 → NP_001001418.5  TBC1 domain family member 3C

    See identical proteins and their annotated locations for NP_001001418.5

    Status: REVIEWED

    Source sequence(s)
    AC233968
    Consensus CDS
    CCDS74045.1
    UniProtKB/Swiss-Prot
    A6NGX2, A8K007, Q6DCB4, Q6IPX1, Q8IZP1, Q9H0B9, Q9UDD4
    UniProtKB/TrEMBL
    B2R8D7
    Related
    ENSP00000482345.1, ENST00000622206.2
    Conserved Domains (1) summary
    smart00164
    Location:99 → 312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    38057693..38070301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436082.1 → XP_047292038.1  TBC1 domain family member 3C isoform X3

    UniProtKB/Swiss-Prot
    A6NGX2, A8K007, Q6DCB4, Q6IPX1, Q8IZP1, Q9H0B9, Q9UDD4

  2. XM_011524814.3 → XP_011523116.1  TBC1 domain family member 3C isoform X1

    See identical proteins and their annotated locations for XP_011523116.1

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_006721907.4 → XP_006721970.1  TBC1 domain family member 3C isoform X4

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:99 → 290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  4. XM_006721905.2 → XP_006721968.1  TBC1 domain family member 3C isoform X2

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:160 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  5. XM_006721904.2 → XP_006721967.1  TBC1 domain family member 3C isoform X1

    See identical proteins and their annotated locations for XP_006721967.1

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  6. XM_006721908.2 → XP_006721971.1  TBC1 domain family member 3C isoform X5

    See identical proteins and their annotated locations for XP_006721971.1

    Conserved Domains (1) summary
    smart00164
    Location:160 → 361
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IPX1.3 GenPept UniProtKB/Swiss-Prot:Q6IPX1

Gene LinkOut

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