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Aliases for TBC1D9 Gene

Aliases for TBC1D9 Gene

  • TBC1 Domain Family, Member 9 (With GRAM Domain) 2 3
  • TBC1 Domain Family Member 9A 3 4
  • TBC1 Domain Family, Member 9 2
  • TBC1 Domain Family Member 9 3
  • KIAA0882 4
  • TBC1D9A 4
  • 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 (With GRAM Domain)) is a Protein Coding gene. Diseases associated with TBC1D9 include osteochondrosis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TBC1D30.

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

Genomic Location for TBC1D9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TBC1D9 Gene at MOPED

Post-translational modifications for TBC1D9 Gene

  • Ubiquitination at Lys552
  • 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 for TBC1D9 Gene

Gene Families for TBC1D9 Gene

HGNC:
  • EFHAND :EF-hand domain containing

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 :
  • Q6ZT07
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 IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22354992
genes like me logo Genes that share ontologies with TBC1D9: view

Phenotypes for TBC1D9 Gene

GenomeRNAi human phenotypes for TBC1D9:
genes like me logo Genes that share phenotypes with TBC1D9: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 1
endoplasmic reticulum 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D9 Gene

Pathways for TBC1D9 Gene

SuperPathways for TBC1D9 Gene

No Data Available

Interacting Proteins for TBC1D9 Gene

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

No data available for Pathways by source for TBC1D9 Gene

Transcripts for TBC1D9 Gene

mRNA/cDNA for TBC1D9 Gene

Unigene Clusters for TBC1D9 Gene

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

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 (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D9 Gene

SOURCE GeneReport for Unigene cluster for TBC1D9 Gene Hs.480819

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

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
chimpanzee
(Pan troglodytes)
Mammalia TBC1D9 35
  • 99.63 (n)
  • 100 (a)
TBC1D9 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D9 35
  • 89.23 (n)
  • 95.78 (a)
TBC1D9 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D9 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d9 35
  • 86.92 (n)
  • 96.04 (a)
Tbc1d9 16
Tbc1d9 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D9 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D9 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d9 35
  • 87.06 (n)
  • 95.64 (a)
chicken
(Gallus gallus)
Aves TBC1D9 35
  • 80.7 (n)
  • 90.56 (a)
TBC1D9 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D9 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d9 35
  • 75.36 (n)
  • 85.46 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12198 35
zebrafish
(Danio rerio)
Actinopterygii tbc1d9 35
  • 73.3 (n)
  • 79.87 (a)
tbc1d9 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006116 35
  • 50.69 (n)
  • 41.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7324 35
  • 50.86 (n)
  • 41.29 (a)
worm
(Caenorhabditis elegans)
Secernentea tbc-9 35
  • 49.56 (n)
  • 44.15 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14269 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 36
  • 33 (a)
OneToMany
Species with no ortholog for TBC1D9:
  • 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

Paralogs for TBC1D9 Gene

Selected 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 MAF
rs758 -- 140,703,519(+) cttct(C/T)gttgc intron-variant
rs732611 -- 140,637,872(+) TCCTC(A/G)TCAGA intron-variant
rs891483 -- 140,637,997(+) TTACC(A/G)GGCAC intron-variant
rs901687 -- 140,717,918(+) TATAC(C/T)TGTTC 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
nsv830089 CNV Gain+Loss 17160897
nsv822750 CNV Gain 20364138
nsv880167 CNV Gain 21882294
esv2073610 CNV Deletion 18987734
esv2661875 CNV Deletion 23128226

Relevant External Links for TBC1D9 Gene

HapMap Linkage Disequilibrium report
TBC1D9

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

Disorders for TBC1D9 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TBC1D9 Gene including...

Search for TBC1D9 Gene in MalaCards »

(1) University of Copenhagen DISEASES for TBC1D9 Gene

Relevant External Links for TBC1D9

Genetic Association Database (GAD)
TBC1D9
Human Genome Epidemiology (HuGE) Navigator
TBC1D9
genes like me logo Genes that share disorders with TBC1D9: view

No data available for UniProtKB/Swiss-Prot for TBC1D9 Gene

Publications for TBC1D9 Gene

  1. 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
  2. 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
  3. 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
  4. 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 48
  5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PMID: 21890473) Wagner S.A. … Choudhary C. (Mol. Cell Proteomics 2011) 3

Products for TBC1D9 Gene

Sources for TBC1D9 Gene

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