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 5
  • TBC1 Domain Family, Member 3H 2

External Ids for TBC1D3H Gene

Previous GeneCards Identifiers for TBC1D3H Gene

  • GC17M031820
  • GC17U900808
  • GC17M033544
  • GC17M033416
  • GC17M034745
  • GC17M034581
  • GC17M036165
  • GC17M036378

Summaries for TBC1D3H Gene

GeneCards Summary for TBC1D3H Gene

TBC1D3H (TBC1 Domain Family Member 3H) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3C.

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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D3H Gene

Genomics for TBC1D3H Gene

Regulatory Elements for TBC1D3H Gene

Enhancers for TBC1D3H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G035466 0.5 ENCODE 4.5 +920.3 920339 2.3 ZNF316 FOS TCF7L2 SLFN12L SLFN12 ENSG00000267648 TBC1D3H ENSG00000267554 LOC100420061
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D3H on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D3H Gene

Chromosome:
17
Start:
36,377,475 bp from pter
End:
36,388,441 bp from pter
Size:
10,967 bases
Orientation:
Minus strand

Genomic View for TBC1D3H Gene

Genes around TBC1D3H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families 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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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 IBA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D3H: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D3H gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TBC1D3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005886 plasma membrane IEA --
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TBC1D3H: view

Pathways & Interactions 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:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D3H: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3H Gene

Drugs & Compounds for TBC1D3H Gene

No Compound Related Data Available

Transcripts for TBC1D3H Gene

mRNA/cDNA for TBC1D3H Gene

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

Unigene Clusters for TBC1D3H Gene

TBC1 domain family, member 3H:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D3H Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D3H Gene:

TBC1D3H

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 expression patterns with TBC1D3H: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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

Variants for TBC1D3H Gene

Sequence variations from dbSNP and Humsavar for TBC1D3H Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1001753333 -- 36,389,808(+) CCAGT(A/G)TGAGA upstream-variant-2KB
rs1008293676 -- 36,385,887(+) TACCT(C/G)CCCAG intron-variant
rs1008324956 -- 36,388,790(+) ACACA(C/T)AGCGG upstream-variant-2KB
rs1010528138 -- 36,385,969(+) AGATC(C/T)CTTCC intron-variant
rs1019766130 -- 36,383,269(+) CCAAC(A/G)TGGCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1458n106 CNV duplication 24896259
dgv1463n106 CNV duplication 24896259
dgv1744e59 CNV duplication 20981092
dgv3144n100 CNV gain 25217958
dgv3145n100 CNV gain 25217958
dgv3146n100 CNV gain 25217958
dgv3147n100 CNV gain 25217958
dgv5536n54 CNV gain 21841781
dgv5538n54 CNV gain 21841781
dgv5540n54 CNV loss 21841781
dgv911e212 CNV gain 25503493
dgv912e212 CNV loss 25503493
dgv913e212 CNV loss 25503493
dgv914e212 CNV gain 25503493
dgv915e212 CNV gain 25503493
dgv916e212 CNV loss 25503493
esv2664544 CNV deletion 23128226
esv2715876 CNV deletion 23290073
esv2758688 CNV gain+loss 17122850
esv2760467 CNV gain 21179565
esv2762388 CNV gain+loss 21179565
esv27635 CNV gain+loss 19812545
esv28567 CNV gain+loss 19812545
esv33107 CNV loss 17666407
esv3353593 CNV duplication 20981092
esv3359327 CNV duplication 20981092
esv3373428 CNV duplication 20981092
esv3373836 CNV duplication 20981092
esv3387800 CNV duplication 20981092
esv3413814 CNV duplication 20981092
esv3432400 CNV duplication 20981092
esv3451484 CNV duplication 20981092
esv3572853 CNV gain 25503493
esv3573020 CNV gain 25503493
esv3582628 CNV loss 25503493
esv3582629 CNV loss 25503493
esv3893000 CNV gain+loss 25118596
esv3893001 CNV gain 25118596
esv3893005 CNV loss 25118596
nsv1061066 CNV loss 25217958
nsv1061448 CNV gain+loss 25217958
nsv1066186 CNV gain 25217958
nsv1075934 CNV duplication 25765185
nsv1075935 CNV duplication 25765185
nsv1075937 CNV duplication 25765185
nsv1077841 CNV duplication 25765185
nsv1078415 CNV duplication 25765185
nsv1110298 CNV duplication 24896259
nsv1115521 CNV duplication 24896259
nsv1124755 CNV duplication 24896259
nsv1132451 CNV duplication 24896259
nsv1136233 CNV deletion 24896259
nsv1147889 CNV duplication 26484159
nsv1149935 CNV duplication 26484159
nsv1150564 CNV duplication 26484159
nsv1153123 CNV duplication 26484159
nsv1160469 CNV duplication 26073780
nsv2040 CNV deletion 18451855
nsv428341 CNV gain+loss 18775914
nsv433448 CNV gain 18776910
nsv469738 CNV gain+loss 16826518
nsv469796 CNV gain+loss 16826518
nsv469853 CNV gain+loss 16826518
nsv471328 CNV gain 19718026
nsv471507 CNV gain 19718026
nsv471697 CNV gain 15918152
nsv509654 CNV insertion 20534489
nsv514836 CNV gain 21397061
nsv514837 CNV gain 21397061
nsv833432 CNV gain+loss 17160897
nsv953881 CNV duplication 24416366
nsv953883 CNV duplication 24416366
nsv953890 CNV duplication 24416366
nsv953891 CNV duplication 24416366
nsv960473 CNV duplication 23825009
nsv962313 CNV duplication 23825009
nsv962316 CNV duplication 23825009

Relevant External Links for TBC1D3H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3H

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

Disorders for TBC1D3H Gene

Relevant External Links for TBC1D3H

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D3H

No disorders were found for TBC1D3H Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  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 64
  3. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant P.H. … Eichler E.E. (Science 2010) 4 64
  4. 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 64
  5. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3 64

Products for TBC1D3H Gene

Sources for TBC1D3H Gene

Content
Loading form....