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TBC1D3D TBC1 domain family member 3D [ Homo sapiens (human) ]

Gene ID: 101060389, updated on 3-Apr-2024

Summary

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Official Symbol
TBC1D3Dprovided by HGNC
Official Full Name
TBC1 domain family member 3Dprovided by HGNC
Primary source
HGNC:HGNC:28944
See related
Ensembl:ENSG00000274419 MIM:610807; AllianceGenome:HGNC:28944
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
PRC17; TBC1D3; TBC1D3A; TBC1D3H
Summary
Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 15.4), skin (RPKM 9.8) and 24 other tissues See more
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Genomic context

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Location:
17q12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38002322..38014908)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38989319..39001929)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase 2, inducible pseudogene Neighboring gene TBC1 domain family member 3L Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36339535-36340036 Neighboring gene uncharacterized LOC102723819 Neighboring gene TBC1 domain family member 3C

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. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. Pei L, et al. Cancer Res, 2002 Oct 1. PMID 12359748
  2. Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes. Onno M, et al. Gene, 1993 Sep 15. PMID 8406013
  3. 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
  4. Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes. Onno M, et al. DNA Cell Biol, 1993 Mar. PMID 8471161
  5. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688

See all (10) 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

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 3D
Names
Prostate cancer gene 17 protein
Rab GTPase-activating protein PRC17
TBC1 domain family member 3
TBC1 domain family, member 3H
TRE17 alpha protein

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_001291465.2 → NP_001278394.1  TBC1 domain family member 3D

    See identical proteins and their annotated locations for NP_001278394.1

    Status: VALIDATED

    Source sequence(s)
    AC233968
    Consensus CDS
    CCDS74044.1
    UniProtKB/Swiss-Prot
    A0A087WVF3
    UniProtKB/TrEMBL
    A0A0G2JP35
    Related
    ENSP00000478426.1, ENST00000616101.5
    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
    38002322..38014908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435093.1 → XP_047291049.1  TBC1 domain family member 3D isoform X3

    UniProtKB/Swiss-Prot
    A0A087WVF3

  2. XM_011524176.3 → XP_011522478.1  TBC1 domain family member 3D isoform X1

    See identical proteins and their annotated locations for XP_011522478.1

    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_006722248.2 → XP_006722311.1  TBC1 domain family member 3D isoform X1

    See identical proteins and their annotated locations for XP_006722311.1

    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  4. XM_006722249.2 → XP_006722312.1  TBC1 domain family member 3D isoform X2

    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (1) summary
    smart00164
    Location:160 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  5. XM_006722252.4 → XP_006722315.1  TBC1 domain family member 3D isoform X4

    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (1) summary
    smart00164
    Location:99 → 290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  6. XM_006722253.2 → XP_006722316.1  TBC1 domain family member 3D isoform X5

    See identical proteins and their annotated locations for XP_006722316.1

    Conserved Domains (1) summary
    smart00164
    Location:160 → 361
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  7. XM_017024010.3 → XP_016879499.1  TBC1 domain family member 3D isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    38989319..39001929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314661.1 → XP_054170636.1  TBC1 domain family member 3D isoform X7

  2. XM_054314660.1 → XP_054170635.1  TBC1 domain family member 3D isoform X2

  3. XM_054314664.1 → XP_054170639.1  TBC1 domain family member 3D isoform X5

  4. XM_054314663.1 → XP_054170638.1  TBC1 domain family member 3D isoform X4

  5. XM_054314662.1 → XP_054170637.1  TBC1 domain family member 3D isoform X3

    UniProtKB/Swiss-Prot
    A0A087WVF3

  6. XM_054314659.1 → XP_054170634.1  TBC1 domain family member 3D isoform X1

  7. XM_054314658.1 → XP_054170633.1  TBC1 domain family member 3D isoform X1

  8. XM_054314665.1 → XP_054170640.1  TBC1 domain family member 3D isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001123390.1: Suppressed sequence

    Description
    NM_001123390.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A087WVF3.1 GenPept UniProtKB/Swiss-Prot:A0A087WVF3

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