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

Gene ID: 729873, updated on 10-Dec-2024

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; AllianceGenome:HGNC:19031
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
Summary
Predicted to enable GTPase activator activity. Predicted to be located in early endosome membrane. [provided by Alliance of Genome Resources, Dec 2024]
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
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Genomic context

See TBC1D3 in Genome Data Viewer
Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38181659..38192555, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39044723..39055625, 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 H3K27ac hESC enhancer GRCh37_chr17:36380303-36380804 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36399387-36399886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36413044-36413577 Neighboring gene uncharacterized LOC105371760 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36442025-36443224

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

EBI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
EBI GWAS Catalog

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
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in early endosome membrane TAS
Traceable Author Statement
more info
 
located_in 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)

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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_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
    A6NGX2, A8K007, Q6DCB4, Q6IPX1, Q8IZP1, Q9H0B9, Q9UDD4
    UniProtKB/TrEMBL
    B2R8D7
    Related
    ENSP00000478683.1, ENST00000620215.3
    Conserved Domains (1) summary
    smart00164
    Location:99312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

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_000017.11 Reference GRCh38.p14 Primary Assembly

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

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    39044723..39055625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)