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Aliases for TBC1D9 Gene

Aliases for TBC1D9 Gene

  • TBC1 Domain Family Member 9 2 3 5
  • TBC1 Domain Family, Member 9 (With GRAM Domain) 2 3
  • TBC1 Domain Family Member 9A 3 4
  • KIAA0882 4
  • TBC1D9A 4
  • GRAMD9 3
  • MDR1 3

External Ids for TBC1D9 Gene

Previous GeneCards Identifiers for TBC1D9 Gene

  • GC04M141900
  • GC04M141761
  • GC04M141541
  • GC04M137272

Summaries for TBC1D9 Gene

GeneCards Summary for TBC1D9 Gene

TBC1D9 (TBC1 Domain Family Member 9) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D9B.

UniProtKB/Swiss-Prot for TBC1D9 Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

Gene Wiki entry for TBC1D9 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D9 Gene

Genomics for TBC1D9 Gene

Regulatory Elements for TBC1D9 Gene

Enhancers for TBC1D9 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around TBC1D9 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D9 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D9 Gene

Chromosome:
4
Start:
140,620,765 bp from pter
End:
140,756,317 bp from pter
Size:
135,553 bases
Orientation:
Minus strand

Genomic View for TBC1D9 Gene

Genes around TBC1D9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D9 Gene

Proteins for TBC1D9 Gene

  • Protein details for TBC1D9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZT07-TBCD9_HUMAN
    Recommended name:
    TBC1 domain family member 9
    Protein Accession:
    Q6ZT07
    Secondary Accessions:
    • A6H8U8
    • D3DNZ1
    • O94958

    Protein attributes for TBC1D9 Gene

    Size:
    1266 amino acids
    Molecular mass:
    143229 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA74905.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86789.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86789.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

neXtProt entry for TBC1D9 Gene

Post-translational modifications for TBC1D9 Gene

  • Ubiquitination at Lys 552
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D9 Gene

Domains & Families for TBC1D9 Gene

Protein Domains for TBC1D9 Gene

Suggested Antigen Peptide Sequences for TBC1D9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZT07

UniProtKB/Swiss-Prot:

TBCD9_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • Contains 1 EF-hand domain.
  • Contains 2 GRAM domains.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D9: view

Function for TBC1D9 Gene

Molecular function for TBC1D9 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

Gene Ontology (GO) - Molecular Function for TBC1D9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22354992
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D9: view
genes like me logo Genes that share phenotypes with TBC1D9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D9 Gene

Localization for TBC1D9 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D9 Gene COMPARTMENTS Subcellular localization image for TBC1D9 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TBC1D9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D9 Gene

Pathways & Interactions for TBC1D9 Gene

SuperPathways for TBC1D9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D9 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 TBC1D9: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D9 Gene

Drugs & Compounds for TBC1D9 Gene

No Compound Related Data Available

Transcripts for TBC1D9 Gene

mRNA/cDNA for TBC1D9 Gene

Unigene Clusters for TBC1D9 Gene

TBC1 domain family, member 9 (with GRAM domain):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -
SP2:
SP3:

Relevant External Links for TBC1D9 Gene

GeneLoc Exon Structure for
TBC1D9
ECgene alternative splicing isoforms for
TBC1D9

Expression for TBC1D9 Gene

mRNA expression in normal human tissues for TBC1D9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D9 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for TBC1D9 Gene

This gene is overexpressed in Fetal Liver (24.1), Blymphocyte (19.5), and Breast (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D9 Gene



Protein tissue co-expression partners for TBC1D9 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D9 Gene:

TBC1D9

SOURCE GeneReport for Unigene cluster for TBC1D9 Gene:

Hs.480819
genes like me logo Genes that share expression patterns with TBC1D9: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TBC1D9 Gene

Orthologs for TBC1D9 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBC1D9 34
  • 89.23 (n)
  • 95.78 (a)
TBC1D9 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d9 34
  • 86.92 (n)
  • 96.04 (a)
Tbc1d9 16
Tbc1d9 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBC1D9 34
  • 99.63 (n)
  • 100 (a)
TBC1D9 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d9 34
  • 87.06 (n)
  • 95.64 (a)
dog
(Canis familiaris)
Mammalia TBC1D9 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D9 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D9 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D9 34
  • 80.7 (n)
  • 90.56 (a)
TBC1D9 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D9 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d9 34
  • 75.36 (n)
  • 85.46 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d9 34
  • 73.3 (n)
  • 79.87 (a)
tbc1d9 35
  • 80 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12198 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006116 34
  • 50.69 (n)
  • 41.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7324 34
  • 50.86 (n)
  • 41.29 (a)
worm
(Caenorhabditis elegans)
Secernentea tbc-9 34
  • 49.56 (n)
  • 44.15 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14269 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 35
  • 33 (a)
OneToMany
Species where no ortholog for TBC1D9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D9 Gene

ENSEMBL:
Gene Tree for TBC1D9 (if available)
TreeFam:
Gene Tree for TBC1D9 (if available)

Paralogs for TBC1D9 Gene

(7) SIMAP similar genes for TBC1D9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBC1D9: view

Variants for TBC1D9 Gene

Sequence variations from dbSNP and Humsavar for TBC1D9 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs13108827 - 140,756,027(+) CACCT(C/T)CTCCG reference, missense
rs13118702 - 140,657,099(+) TACCT(C/T)GTAGG reference, missense
rs758 -- 140,703,519(+) cttct(C/T)gttgc intron-variant
rs732611 -- 140,637,872(+) TCCTC(A/G)TCAGA intron-variant
rs923305 -- 140,707,680(+) CTCTA(C/G)CCATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D9 Gene

Variant ID Type Subtype PubMed ID
esv2073610 CNV deletion 18987734
esv2661875 CNV deletion 23128226
esv3564724 CNV deletion 23714750
nsv478418 CNV novel sequence insertion 20440878
nsv822750 CNV gain 20364138
nsv830089 CNV gain+loss 17160897
nsv949826 CNV deletion 24416366

Variation tolerance for TBC1D9 Gene

Residual Variation Intolerance Score: 3.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D9 Gene

Disorders for TBC1D9 Gene

Relevant External Links for TBC1D9

Genetic Association Database (GAD)
TBC1D9
Human Genome Epidemiology (HuGE) Navigator
TBC1D9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D9

No disorders were found for TBC1D9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D9 Gene

Publications for TBC1D9 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 65
  3. High level of cannabinoid receptor 1, absence of regulator of G protein signalling 13 and differential expression of Cyclin D1 in mantle cell lymphoma. (PMID: 12970790) Islam T.C. … Sander B. (Leukemia 2003) 2 3 65
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4 65
  5. Diindolylmethane, a naturally occurring compound, induces CYP3A4 and MDR1 gene expression by activating human PXR. (PMID: 25542144) Pondugula S.R. … Xie W. (Toxicol. Lett. 2015) 3 65

Products for TBC1D9 Gene

Sources for TBC1D9 Gene

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