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Aliases for TBC1D10B Gene

Aliases for TBC1D10B Gene

  • TBC1 Domain Family Member 10B 2 3 5
  • TBC1 Domain Family, Member 10B 2 3
  • Rab27A-GAP-Beta 3 4
  • Rab27A-GAPbeta 3
  • EPI64B 3
  • FP2461 3

External Ids for TBC1D10B Gene

Previous GeneCards Identifiers for TBC1D10B Gene

  • GC16M030277
  • GC16M030279
  • GC16M027930

Summaries for TBC1D10B Gene

Entrez Gene Summary for TBC1D10B Gene

  • Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]

GeneCards Summary for TBC1D10B Gene

TBC1D10B (TBC1 Domain Family Member 10B) is a Protein Coding gene. Diseases associated with TBC1D10B include oculocerebrorenal syndrome. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D10C.

UniProtKB/Swiss-Prot for TBC1D10B Gene

  • Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D10B Gene

Genomics for TBC1D10B Gene

Regulatory Elements for TBC1D10B Gene

Promoters for TBC1D10B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D10B on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D10B Gene

Chromosome:
16
Start:
30,357,101 bp from pter
End:
30,370,264 bp from pter
Size:
13,164 bases
Orientation:
Minus strand

Genomic View for TBC1D10B Gene

Genes around TBC1D10B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D10B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D10B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D10B Gene

Proteins for TBC1D10B Gene

  • Protein details for TBC1D10B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4KMP7-TB10B_HUMAN
    Recommended name:
    TBC1 domain family member 10B
    Protein Accession:
    Q4KMP7
    Secondary Accessions:
    • B9A6L0
    • Q6IN54
    • Q6P530
    • Q71RG7
    • Q86VC5
    • Q9H8Z2
    • Q9NUN6
    • Q9UFP2

    Protein attributes for TBC1D10B Gene

    Size:
    808 amino acids
    Molecular mass:
    87199 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH50523.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH63112.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH72453.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH93814.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH93816.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH98419.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ15206.1; Type=Frameshift; Positions=154, 379, 401; Evidence={ECO:0000305}; Sequence=BAA92086.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14454.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH16638.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=EAW52256.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D10B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D10B Gene

Proteomics data for TBC1D10B Gene at MOPED

Post-translational modifications for TBC1D10B Gene

  • Ubiquitination at Lys 398 and Lys 405
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D10B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D10B Gene

Domains & Families for TBC1D10B Gene

Protein Domains for TBC1D10B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D10B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4KMP7

UniProtKB/Swiss-Prot:

TB10B_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D10B: view

No data available for Gene Families for TBC1D10B Gene

Function for TBC1D10B Gene

Molecular function for TBC1D10B Gene

UniProtKB/Swiss-Prot Function:
Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A.

Gene Ontology (GO) - Molecular Function for TBC1D10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 19077034
genes like me logo Genes that share ontologies with TBC1D10B: view
genes like me logo Genes that share phenotypes with TBC1D10B: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D10B Gene

Localization for TBC1D10B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D10B Gene

Cytoplasm. Note=In melanocytes, located at the periphery of cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D10B Gene COMPARTMENTS Subcellular localization image for TBC1D10B gene
Compartment Confidence
plasma membrane 5
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
genes like me logo Genes that share ontologies with TBC1D10B: view

Pathways & Interactions for TBC1D10B Gene

SuperPathways for TBC1D10B Gene

No Data Available

Interacting Proteins for TBC1D10B Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000386538%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000266458%0d%0a9606.ENSP00000363970%0d%0a
Selected Interacting proteins: ENSP00000386538 for TBC1D10B Gene via STRING

Gene Ontology (GO) - Biological Process for TBC1D10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0042147 retrograde transport, endosome to Golgi IMP 17562788
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D10B: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D10B Gene

Drugs & Compounds for TBC1D10B Gene

No Compound Related Data Available

Transcripts for TBC1D10B Gene

Unigene Clusters for TBC1D10B Gene

TBC1 domain family, member 10B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D10B Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5: -
SP6:

Relevant External Links for TBC1D10B Gene

GeneLoc Exon Structure for
TBC1D10B
ECgene alternative splicing isoforms for
TBC1D10B

Expression for TBC1D10B Gene

mRNA expression in normal human tissues for TBC1D10B Gene

Protein differential expression in normal tissues from HIPED for TBC1D10B Gene

This gene is overexpressed in Monocytes (11.5), Frontal cortex (11.2), Peripheral blood mononuclear cells (10.5), and Amniocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D10B Gene



SOURCE GeneReport for Unigene cluster for TBC1D10B Gene Hs.632182

genes like me logo Genes that share expression patterns with TBC1D10B: view

Protein tissue co-expression partners for TBC1D10B Gene

- Elite partner

Primer Products

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 mRNA Expression by UniProt/SwissProt for TBC1D10B Gene

Orthologs for TBC1D10B Gene

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

Orthologs for TBC1D10B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D10B 36
  • 99 (a)
OneToOne
TBC1D10B 35
  • 99.13 (n)
  • 99.38 (a)
cow
(Bos Taurus)
Mammalia TBC1D10B 35
  • 89.42 (n)
  • 91.97 (a)
TBC1D10B 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D10B 36
  • 89 (a)
OneToOne
LOC489935 35
  • 87.82 (n)
  • 91.45 (a)
mouse
(Mus musculus)
Mammalia Tbc1d10b 36
  • 89 (a)
OneToOne
Tbc1d10b 16
Tbc1d10b 35
  • 86.88 (n)
  • 89.49 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D10B 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D10B 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d10b 35
  • 87.54 (n)
  • 90.49 (a)
lizard
(Anolis carolinensis)
Reptilia TBC1D10B 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29809 35
zebrafish
(Danio rerio)
Actinopterygii TBC1D10B 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta wkd 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-10 36
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSB3 36
  • 17 (a)
ManyToMany
MSB4 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.929 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6221 36
  • 51 (a)
OneToMany
Species with no ortholog for TBC1D10B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TBC1D10B Gene

ENSEMBL:
Gene Tree for TBC1D10B (if available)
TreeFam:
Gene Tree for TBC1D10B (if available)

Paralogs for TBC1D10B Gene

(5) SIMAP similar genes for TBC1D10B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TBC1D10B: view

Variants for TBC1D10B Gene

Sequence variations from dbSNP and Humsavar for TBC1D10B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4500754 -- 30,365,370(-) CCTGG(C/T)GGGGG intron-variant
rs8049108 -- 30,365,165(+) CAGGC(C/T)TTGGC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs11642676 -- 30,360,334(+) CTGCT(C/G)TTCTT intron-variant
rs9926923 -- 30,367,200(+) AAAAA(A/C)AAAAC intron-variant
rs11646130 -- 30,365,638(+) TAGTG(C/T)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D10B Gene

Variant ID Type Subtype PubMed ID
dgv846e1 CNV Complex 17122850
dgv847e1 CNV Complex 17122850
nsv905724 CNV Loss 21882294
nsv827612 CNV Gain 20364138
nsv905725 CNV Loss 21882294
esv26390 CNV Loss 19812545

Variation tolerance for TBC1D10B Gene

Gene Damage Index Score: 8.24; 85.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D10B Gene

HapMap Linkage Disequilibrium report
TBC1D10B
Human Gene Mutation Database (HGMD)
TBC1D10B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D10B Gene

Disorders for TBC1D10B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D10B Gene - From: DISEASES

Disorder Aliases PubMed IDs
oculocerebrorenal syndrome
  • lowe syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TBC1D10B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D10B
genes like me logo Genes that share disorders with TBC1D10B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D10B Gene

Publications for TBC1D10B Gene

  1. Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C. (PMID: 20404108) Hsu C. … Simons M. (J. Cell Biol. 2010) 2 3 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras. (PMID: 23248241) Nagai H. … Nakamura T. (J. Biochem. 2013) 3
  5. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PMID: 23383273) Yu C.C. … Chow L.P. (PLoS ONE 2013) 3

Products for TBC1D10B Gene

Sources for TBC1D10B Gene

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