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TBC1D3 TBC1 domain family member 3 [ Homo sapiens (human) ]

Gene ID: 729873, updated on 24-Nov-2020

Summary

Official Symbol
TBC1D3provided by HGNC
Official Full Name
TBC1 domain family member 3provided by HGNC
Primary source
HGNC:HGNC:19031
See related
Ensembl:ENSG00000274611 MIM:607741
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; TBC1D3A; TBC1D3C; TBC1D3D; TBC1D3F; TBC1D3L
Annotation information
Note: After build 36.3 (2008), NCBI noted that the annotation of TBC1D3 and TBC1D3F were incorrect. At that time geneID:729873 was renamed to TBC1D3 and geneID:84218 was renamed to TBC1D3F. [22 Apr 2009]
Expression
Broad expression in testis (RPKM 25.9), skin (RPKM 14.0) and 24 other tissues See more

Genomic context

See TBC1D3 in Genome Data Viewer
Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (38181659..38192555, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36337528..36349276, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723933 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 6 Neighboring gene NPEPPS pseudogene 1 Neighboring gene uncharacterized LOC105371760

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

Associated conditions

Description Tests
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ56187, FLJ57364, FLJ58835, FLJ60943, FLJ77836, FLJ93850, DKFZp434P2235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
early endosome membrane TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
TBC1 domain family member 3
Names
Rab GTPase-activating protein PRC17
TBC1 domain family member 3C
TBC1 domain family member 3L
TBC1 domain family, member 3F
prostate cancer gene 17 protein
protein TRE17-alpha

NCBI Reference Sequences (RefSeq)

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_001123391.4NP_001116863.3  TBC1 domain family member 3

    See identical proteins and their annotated locations for NP_001116863.3

    Status: VALIDATED

    Source sequence(s)
    AC233968, AC244154
    Consensus CDS
    CCDS45658.1
    UniProtKB/Swiss-Prot
    Q6IPX1, Q8IZP1
    Related
    ENSP00000478683.1, ENST00000620215.2
    Conserved Domains (1) summary
    smart00164
    Location:99312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    38181659..38192555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    2216776..2227686 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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