Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBC1D3H Gene

Aliases for TBC1D3H Gene

  • TBC1 Domain Family, Member 3H 2 3

External Ids for TBC1D3H Gene

Previous GeneCards Identifiers for TBC1D3H Gene

  • GC17M031820
  • GC17U900808
  • GC17M033544
  • GC17M033416
  • GC17M034745
  • GC17M034581

Summaries for TBC1D3H Gene

GeneCards Summary for TBC1D3H Gene

TBC1D3H (TBC1 Domain Family, Member 3H) is a Protein Coding gene. Diseases associated with TBC1D3H include intrahepatic cholangiocarcinoma. An important paralog of this gene is LOC101060321.

UniProtKB/Swiss-Prot for TBC1D3H Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D3H Gene

Genomics for TBC1D3H Gene

Genomic Location for TBC1D3H Gene

Start:
36,165,686 bp from pter
End:
36,439,566 bp from pter
Size:
273,881 bases
Orientation:
Minus strand

Genomic View for TBC1D3H Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D3H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3H Gene

No data available for Regulatory Elements for TBC1D3H Gene

Proteins for TBC1D3H Gene

  • Protein details for TBC1D3H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7X1-TBC3H_HUMAN
    Recommended name:
    TBC1 domain family member 3H
    Protein Accession:
    P0C7X1
    Secondary Accessions:
    • A6NH17
    • A8MZ78

    Protein attributes for TBC1D3H Gene

    Size:
    549 amino acids
    Molecular mass:
    62219 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.

neXtProt entry for TBC1D3H Gene

Proteomics data for TBC1D3H Gene at MOPED

Post-translational modifications for TBC1D3H 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 TBC1D3H Gene

No data available for DME Specific Peptides for TBC1D3H Gene

Domains for TBC1D3H Gene

Protein Domains for TBC1D3H Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D3H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C7X1

UniProtKB/Swiss-Prot:

TBC3H_HUMAN :
  • P0C7X1
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D3H: view

No data available for Gene Families for TBC1D3H Gene

Function for TBC1D3H Gene

Molecular function for TBC1D3H Gene

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

Gene Ontology (GO) - Molecular Function for TBC1D3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with TBC1D3H: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TBC1D3H Gene

Localization for TBC1D3H Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3H Gene

Cell membrane; Lipid-anchor. Note=Associated with lipid rafts. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D3H Gene COMPARTMENTS Subcellular localization image for TBC1D3H gene
Compartment Confidence
cytosol 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TBC1D3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TBC1D3H: view

Pathways for TBC1D3H Gene

SuperPathways for TBC1D3H Gene

No Data Available

Interacting Proteins for TBC1D3H Gene

Gene Ontology (GO) - Biological Process for TBC1D3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with TBC1D3H: view

No data available for Pathways by source for TBC1D3H Gene

Transcripts for TBC1D3H Gene

mRNA/cDNA for TBC1D3H Gene

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

Unigene Clusters for TBC1D3H Gene

TBC1 domain family, member 3H:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D3H

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TBC1D3H
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3H Gene

No ASD Table

Relevant External Links for TBC1D3H Gene

GeneLoc Exon Structure for
TBC1D3H
ECgene alternative splicing isoforms for
TBC1D3H

Expression for TBC1D3H Gene

mRNA expression in normal human tissues for TBC1D3H Gene

SOURCE GeneReport for Unigene cluster for TBC1D3H Gene Hs.569742

mRNA Expression by UniProt/SwissProt for TBC1D3H Gene

P0C7X1-TBC3H_HUMAN
Tissue specificity: Expressed in heart.
genes like me logo Genes that share expressions with TBC1D3H: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein expression for TBC1D3H Gene

Orthologs for TBC1D3H Gene

Evolution for TBC1D3H Gene

ENSEMBL:
Gene Tree for TBC1D3H (if available)
TreeFam:
Gene Tree for TBC1D3H (if available)

No data available for Orthologs for TBC1D3H Gene

Paralogs for TBC1D3H Gene

Paralogs for TBC1D3H Gene

genes like me logo Genes that share paralogs with TBC1D3H: view

Variants for TBC1D3H Gene

Sequence variations from dbSNP and Humsavar for TBC1D3H Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1969143 -- 36,389,939(-) cccag(C/T)cccag upstream-variant-2KB
rs1969144 -- 36,389,863(-) CTCCC(C/T)GAGCC upstream-variant-2KB
rs2135914 -- 36,388,753(-) GGCTG(C/G)GGTTA upstream-variant-2KB
rs2260687 -- 36,389,482(-) tatgc(A/G)catcc upstream-variant-2KB
rs2610284 -- 36,389,485(-) agcta(C/T)gcgca upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3H Gene

Variant ID Type Subtype PubMed ID
nsv428340 CNV Gain 18775914
dgv946e1 CNV Complex 17122850
dgv948e1 CNV Complex 17122850
nsv9540 CNV Gain+Loss 18304495
dgv3145n71 CNV Gain 21882294
dgv122e55 CNV Gain 17911159
esv2751645 CNV Gain 17911159
esv29998 CNV Loss 17803354
nsv526727 CNV Gain 19592680
nsv469796 CNV Gain 16826518
nsv471697 CNV Gain 15918152
essv6619 CNV CNV 17122850
esv27635 CNV Gain+Loss 19812545
nsv471328 CNV Duplication 19718026
nsv469738 CNV Complex 16826518
nsv469853 CNV Complex 16826518

Relevant External Links for TBC1D3H Gene

HapMap Linkage Disequilibrium report
TBC1D3H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D3H Gene

Disorders for TBC1D3H Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TBC1D3H Gene including...

Search for TBC1D3H Gene in MalaCards »
genes like me logo Genes that share disorders with TBC1D3H: view

No data available for UniProtKB/Swiss-Prot for TBC1D3H Gene

Publications for TBC1D3H Gene

  1. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D. … Stahl P.D. (Genomics 2006) 2 3 4
  2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4
  3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 3
  4. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E. … Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3
  5. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3

Products for TBC1D3H Gene

Sources for TBC1D3H Gene

Back to Top

Content