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Aliases for TBC1D30 Gene

Aliases for TBC1D30 Gene

  • TBC1 Domain Family Member 30 2 3 5
  • TBC1 Domain Family, Member 30 2
  • KIAA0984 4

External Ids for TBC1D30 Gene

Previous GeneCards Identifiers for TBC1D30 Gene

  • GC12P063460
  • GC12P065174
  • GC12P062225

Summaries for TBC1D30 Gene

GeneCards Summary for TBC1D30 Gene

TBC1D30 (TBC1 Domain Family Member 30) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is TBC1D8.

UniProtKB/Swiss-Prot for TBC1D30 Gene

  • GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D30 Gene

Genomics for TBC1D30 Gene

Regulatory Elements for TBC1D30 Gene

Promoters for TBC1D30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D30 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D30 Gene

Chromosome:
12
Start:
64,781,193 bp from pter
End:
64,881,032 bp from pter
Size:
99,840 bases
Orientation:
Plus strand

Genomic View for TBC1D30 Gene

Genes around TBC1D30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D30 Gene

Proteins for TBC1D30 Gene

  • Protein details for TBC1D30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2I9-TBC30_HUMAN
    Recommended name:
    TBC1 domain family member 30
    Protein Accession:
    Q9Y2I9
    Secondary Accessions:
    • B3KP01
    • B9A6M9
    • E7EMW4
    • F5GYJ9

    Protein attributes for TBC1D30 Gene

    Size:
    924 amino acids
    Molecular mass:
    102743 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76828.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D30 Gene

Proteomics data for TBC1D30 Gene at MOPED

Post-translational modifications for TBC1D30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D30 Gene

No data available for DME Specific Peptides for TBC1D30 Gene

Domains & Families for TBC1D30 Gene

Protein Domains for TBC1D30 Gene

Suggested Antigen Peptide Sequences for TBC1D30 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2I9

UniProtKB/Swiss-Prot:

TBC30_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D30: view

No data available for Gene Families for TBC1D30 Gene

Function for TBC1D30 Gene

Molecular function for TBC1D30 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.

Gene Ontology (GO) - Molecular Function for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IPI 17646400
genes like me logo Genes that share ontologies with TBC1D30: view

Animal Model Products

CRISPR Products

miRNA for TBC1D30 Gene

miRTarBase miRNAs that target TBC1D30

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D30 Gene

Localization for TBC1D30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D30 Gene

Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D30 Gene COMPARTMENTS Subcellular localization image for TBC1D30 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0012505 endomembrane system IBA --
GO:0036064 ciliary basal body IDA 17646400
genes like me logo Genes that share ontologies with TBC1D30: view

Pathways & Interactions for TBC1D30 Gene

SuperPathways for TBC1D30 Gene

No Data Available

Interacting Proteins for TBC1D30 Gene

Gene Ontology (GO) - Biological Process for TBC1D30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IDA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D30: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D30 Gene

Drugs & Compounds for TBC1D30 Gene

No Compound Related Data Available

Transcripts for TBC1D30 Gene

Unigene Clusters for TBC1D30 Gene

TBC1 domain family, member 30:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D30 Gene

No ASD Table

Relevant External Links for TBC1D30 Gene

GeneLoc Exon Structure for
TBC1D30
ECgene alternative splicing isoforms for
TBC1D30

Expression for TBC1D30 Gene

mRNA expression in normal human tissues for TBC1D30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D30 Gene

This gene is overexpressed in Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for TBC1D30 Gene

This gene is overexpressed in Adipocyte (41.4) and Pancreas (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D30 Gene



SOURCE GeneReport for Unigene cluster for TBC1D30 Gene Hs.192492

genes like me logo Genes that share expression patterns with TBC1D30: view

Protein tissue co-expression partners for TBC1D30 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TBC1D30 Gene

Orthologs for TBC1D30 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D30 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBC1D30 35
  • 88.89 (n)
  • 90.65 (a)
TBC1D30 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D30 35
  • 89.06 (n)
  • 90.91 (a)
TBC1D30 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d30 35
  • 84.76 (n)
  • 91.72 (a)
Tbc1d30 16
Tbc1d30 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC467055 35
  • 99.42 (n)
  • 99.42 (a)
TBC1D30 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d30 35
  • 84.06 (n)
  • 90.22 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D30 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D30 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D30 35
  • 76.52 (n)
  • 81 (a)
TBC1D30 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D30 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d30 35
  • 70.63 (n)
  • 75.07 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d30 35
  • 66.1 (n)
  • 67.23 (a)
tbc1d30 36
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42795 36
  • 9 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-19 36
  • 8 (a)
ManyToMany
tbc-9 36
  • 7 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 36
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for TBC1D30:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 TBC1D30 Gene

ENSEMBL:
Gene Tree for TBC1D30 (if available)
TreeFam:
Gene Tree for TBC1D30 (if available)

Paralogs for TBC1D30 Gene

Paralogs for TBC1D30 Gene

(1) SIMAP similar genes for TBC1D30 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for TBC1D30 Gene

genes like me logo Genes that share paralogs with TBC1D30: view

Variants for TBC1D30 Gene

Sequence variations from dbSNP and Humsavar for TBC1D30 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs11615287 - 64,830,493(+) ATTCA(G/T)ATAGT reference, missense
rs939875 - 64,875,267(+) ACACC(A/G)TAGGG reference, missense
rs2290527 -, - 64,870,607(-) CTCAT(C/T)TGGCT reference, missense
rs939876 -- 64,858,338(-) tgtat(C/T)agagc intron-variant
rs903178 -- 64,840,548(-) cagcg(A/C)ctgtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D30 Gene

Variant ID Type Subtype PubMed ID
nsv52978 CNV Loss 16902084

Variation tolerance for TBC1D30 Gene

Gene Damage Index Score: 2.67; 45.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D30 Gene

HapMap Linkage Disequilibrium report
TBC1D30
Human Gene Mutation Database (HGMD)
TBC1D30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D30 Gene

Disorders for TBC1D30 Gene

Relevant External Links for TBC1D30

Genetic Association Database (GAD)
TBC1D30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D30

No disorders were found for TBC1D30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D30 Gene

Publications for TBC1D30 Gene

  1. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 48 67
  2. Functional dissection of Rab GTPases involved in primary cilium formation. (PMID: 17646400) Yoshimura S. … Barr F.A. (J. Cell Biol. 2007) 2 3
  3. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PMID: 12618308) Bernards A. (Biochim. Biophys. Acta 2003) 2 3
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for TBC1D30 Gene

Sources for TBC1D30 Gene

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