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Aliases for TBC1D3 Gene

Aliases for TBC1D3 Gene

  • TBC1 Domain Family, Member 3 2 3
  • TBC1D3A 3 4 6
  • PRC17 3 4 6
  • Rab GTPase-Activating Protein PRC17 3 4
  • Prostate Cancer Gene 17 Protein 3 4
  • Protein TRE17-Alpha 3 4
  • TBC1 Domain Family, Member 3F 3
  • TBC1 Domain Family Member 3 3
  • Prostate Cancer Gene 17 2
  • TBC1D3F 3

External Ids for TBC1D3 Gene

Previous GeneCards Identifiers for TBC1D3 Gene

  • GC17P036015
  • GC17M036712
  • GC17P033358
  • GC17M033413
  • GC17M033592
  • GC17M033594
  • GC17M036338

Summaries for TBC1D3 Gene

GeneCards Summary for TBC1D3 Gene

TBC1D3 (TBC1 Domain Family, Member 3) is a Protein Coding gene. Diseases associated with TBC1D3 include prostate cancer. An important paralog of this gene is TBC1D3F.

UniProtKB/Swiss-Prot for TBC1D3 Gene

  • Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D3 Gene

Genomics for TBC1D3 Gene

Regulatory Elements for TBC1D3 Gene

Genomic Location for TBC1D3 Gene

Start:
38,181,476 bp from pter
End:
38,192,600 bp from pter
Size:
11,125 bases
Orientation:
Minus strand

Genomic View for TBC1D3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3 Gene

Proteins for TBC1D3 Gene

  • Protein details for TBC1D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZP1-TBC3A_HUMAN
    Recommended name:
    TBC1 domain family member 3
    Protein Accession:
    Q8IZP1
    Secondary Accessions:
    • A6NGX2
    • A8K007
    • Q6DCB4
    • Q9H0B9
    • Q9UDD4

    Protein attributes for TBC1D3 Gene

    Size:
    549 amino acids
    Molecular mass:
    62187 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • TBC1D3 is encoded by a collection of very similar paralogs with multiple copies of each paralog, some human genomes encoding well over 50 copies depending on ethnic origin of the donor

    Alternative splice isoforms for TBC1D3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D3 Gene

Proteomics data for TBC1D3 Gene at MOPED

Post-translational modifications for TBC1D3 Gene

  • Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.
  • Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3 Gene

Domains for TBC1D3 Gene

Protein Domains for TBC1D3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZP1

UniProtKB/Swiss-Prot:

TBC3A_HUMAN :
  • Q8IZP1
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D3: view

No data available for Gene Families for TBC1D3 Gene

Function for TBC1D3 Gene

Molecular function for TBC1D3 Gene

UniProtKB/Swiss-Prot Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.

Gene Ontology (GO) - Molecular Function for TBC1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with TBC1D3: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TBC1D3 Gene

Localization for TBC1D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3 Gene

Cell membrane; Lipid-anchor. Note=Associated with lipid rafts.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D3 Gene COMPARTMENTS Subcellular localization image for TBC1D3 gene
Compartment Confidence
cytosol 2
nucleus 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for TBC1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TBC1D3: view

Pathways for TBC1D3 Gene

SuperPathways for TBC1D3 Gene

No Data Available

Interacting Proteins for TBC1D3 Gene

Gene Ontology (GO) - Biological Process for TBC1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D3: view

No data available for Pathways by source for TBC1D3 Gene

Transcripts for TBC1D3 Gene

mRNA/cDNA for TBC1D3 Gene

(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBC1D3 Gene

TBC1 domain family, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3 Gene

No ASD Table

Relevant External Links for TBC1D3 Gene

GeneLoc Exon Structure for
TBC1D3
ECgene alternative splicing isoforms for
TBC1D3

Expression for TBC1D3 Gene

mRNA expression in normal human tissues for TBC1D3 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TBC1D3 Gene

SOURCE GeneReport for Unigene cluster for TBC1D3 Gene Hs.735975

mRNA Expression by UniProt/SwissProt for TBC1D3 Gene

Q8IZP1-TBC3A_HUMAN
Tissue specificity: Expressed in liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, small intestine and peripheral blood leukocytes. Overexpressed in prostate cancers.
genes like me logo Genes that share expressions with TBC1D3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TBC1D3 Gene

Orthologs for TBC1D3 Gene

Evolution for TBC1D3 Gene

ENSEMBL:
Gene Tree for TBC1D3 (if available)
TreeFam:
Gene Tree for TBC1D3 (if available)

No data available for Orthologs for TBC1D3 Gene

Paralogs for TBC1D3 Gene

genes like me logo Genes that share paralogs with TBC1D3: view

Variants for TBC1D3 Gene

Sequence variations from dbSNP and Humsavar for TBC1D3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs9019 -- 38,181,793(-) TGCCC(A/G)GCCCC utr-variant-3-prime
rs4503844 -- 38,194,451(-) gccaa(A/T)acctc upstream-variant-2KB
rs4795147 -- 38,194,271(+) catgg(A/C)agaag upstream-variant-2KB
rs8068090 -- 38,194,309(+) caaga(C/T)ggcag upstream-variant-2KB
rs8071968 -- 38,194,445(+) agaga(C/T)gaggt upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3 Gene

Variant ID Type Subtype PubMed ID
dgv957e1 CNV Complex 17122850
nsv908172 CNV Loss 21882294
nsv471398 CNV Duplication 19718026
nsv820624 CNV Duplication 20802225
nsv833435 CNV Gain+Loss 17160897

Relevant External Links for TBC1D3 Gene

HapMap Linkage Disequilibrium report
TBC1D3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D3 Gene

Disorders for TBC1D3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TBC1D3 Gene including...

Search for TBC1D3 Gene in MalaCards »
genes like me logo Genes that share disorders with TBC1D3: view

No data available for UniProtKB/Swiss-Prot for TBC1D3 Gene

Publications for TBC1D3 Gene

  1. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PMID: 12359748) Pei L. … Li J. (Cancer Res. 2002) 2 3 4
  2. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PMID: 12604796) Paulding C.A. … Haber D.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4
  3. Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes. (PMID: 8406013) Onno M. … Hill M. (Gene 1993) 3 4
  4. Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes. (PMID: 8471161) Onno M. … Hill M. (DNA Cell Biol. 1993) 3 4
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4

Products for TBC1D3 Gene

Sources for TBC1D3 Gene

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