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Aliases for TBC1D10A Gene

Aliases for TBC1D10A Gene

  • TBC1 Domain Family Member 10A 2 3 5
  • EBP50-PDX Interactor Of 64 KDa 3 4
  • EBP50-PDZ Interactor Of 64 KD 2 3
  • Rab27A-GAP-Alpha 3 4
  • TBC1D10 3 4
  • EPI64 3 4
  • TBC1 Domain Family, Member 10A 2
  • TBC1 Domain Family, Member 10 2
  • EPI64 Protein 4
  • DJ130H16.1 3
  • DJ130H16.2 3

External Ids for TBC1D10A Gene

Previous HGNC Symbols for TBC1D10A Gene

  • TBC1D10

Previous GeneCards Identifiers for TBC1D10A Gene

  • GC22M029016
  • GC22M029017
  • GC22M030683
  • GC22M013649
  • GC22M030687

Summaries for TBC1D10A Gene

GeneCards Summary for TBC1D10A Gene

TBC1D10A (TBC1 Domain Family Member 10A) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include GTPase activator activity and PDZ domain binding. An important paralog of this gene is TBC1D10B.

UniProtKB/Swiss-Prot for TBC1D10A Gene

  • Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A.

Gene Wiki entry for TBC1D10A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D10A Gene

Genomics for TBC1D10A Gene

Regulatory Elements for TBC1D10A Gene

Enhancers for TBC1D10A 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
GH22F030272 1 FANTOM5 Ensembl 13.5 +53.5 53478 1.6 ZNF335 CTCF ZNF366 HLF ZNF76 KDM1A MNT RARA OSM TBC1D10A ENSG00000248751 ENSG00000232530 MTMR3 GATSL3 SLC35E4 RNF215 DUSP18 SF3A1
GH22F030275 0.8 FANTOM5 Ensembl ENCODE 12.9 +49.0 49046 4.8 ATF1 ZNF121 GLIS2 CREM EGR2 ZNF362 NR2F2 SMARCA4 ZNF341 GLIS1 OSM LIF TBC1D10A ENSG00000248751 SEC14L2 ENSG00000232530 ENSG00000249590 SLC35E4 SEC14L4 RNF215
GH22F030270 1.7 FANTOM5 Ensembl ENCODE 12.8 +56.0 55973 1.5 HDGF ATF1 BMI1 ZNF48 YY1 ZNF335 SCRT2 ZNF143 FOS CREM OSM TBC1D10A ENSG00000248751 ENSG00000232530 MTMR3 SLC35E4 DUSP18 SF3A1 CCDC157 ENSG00000279699
GH22F030390 0.7 Ensembl ENCODE 11.4 -64.4 -64398 1.4 ELF3 CBX3 ARID4B YBX1 RAD21 ZNF143 FOS MIXL1 THAP11 ZNF654 GATSL3 TBC1D10A ENSG00000248751 OSM CCDC157 SF3A1 SEC14L3 ENSG00000181123 LIF SEC14L2
GH22F030385 0.2 ENCODE 11.4 -60.0 -59951 2.1 HDGF INSM2 KLF17 ARID4B ZNF2 RAD21 GLIS2 ZNF143 FOS ZNF654 GATSL3 ENSG00000249590 TBC1D10A ENSG00000248751 OSM CCDC157 SF3A1 LIF ENSG00000181123 SEC14L3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TBC1D10A on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D10A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001532140 346 1801 HDGF ELF3 PKNOX1 INSM2 ZNF76 KLF17 ARID4B SIN3A RAD21 GLIS2

Genomic Location for TBC1D10A Gene

Chromosome:
22
Start:
30,291,990 bp from pter
End:
30,327,046 bp from pter
Size:
35,057 bases
Orientation:
Minus strand

Genomic View for TBC1D10A Gene

Genes around TBC1D10A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D10A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D10A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D10A Gene

Proteins for TBC1D10A Gene

  • Protein details for TBC1D10A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXI6-TB10A_HUMAN
    Recommended name:
    TBC1 domain family member 10A
    Protein Accession:
    Q9BXI6
    Secondary Accessions:
    • B3KXT8
    • O76053
    • Q20WK7
    • Q543A2

    Protein attributes for TBC1D10A Gene

    Size:
    508 amino acids
    Molecular mass:
    57118 Da
    Quaternary structure:
    • Binds to the first PDZ domain of SLC9A3R1 and SLC9A3R2.
    SequenceCaution:
    • Sequence=AAC23434.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D10A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D10A Gene

Post-translational modifications for TBC1D10A Gene

  • Exists in both phosphorylated and non-phosphorylated state.
  • Ubiquitination at Lys 137 and Lys 322
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D10A Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TBC1D10A

No data available for DME Specific Peptides for TBC1D10A Gene

Domains & Families for TBC1D10A Gene

Protein Domains for TBC1D10A Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BXI6

UniProtKB/Swiss-Prot:

TB10A_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 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D10A: view

No data available for Gene Families for TBC1D10A Gene

Function for TBC1D10A Gene

Molecular function for TBC1D10A Gene

UniProtKB/Swiss-Prot Function:
Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A.

Gene Ontology (GO) - Molecular Function for TBC1D10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA,IBA --
GO:0005515 protein binding IPI 11285285
GO:0017137 Rab GTPase binding IBA --
GO:0030165 PDZ domain binding IPI 11285285
genes like me logo Genes that share ontologies with TBC1D10A: view
genes like me logo Genes that share phenotypes with TBC1D10A: view

Animal Models for TBC1D10A Gene

MGI Knock Outs for TBC1D10A:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D10A Gene

Localization for TBC1D10A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D10A Gene

Cell projection, microvillus. Note=Localizes to the microvilli-rich region of the syncytiotrophoblast. In melanocytes, located at the periphery of cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D10A Gene COMPARTMENTS Subcellular localization image for TBC1D10A gene
Compartment Confidence
extracellular 5
plasma membrane 5
endosome 1

Gene Ontology (GO) - Cellular Components for TBC1D10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA 17562788
GO:0005902 microvillus TAS 11285285
GO:0005913 cell-cell adherens junction IDA 25468996
genes like me logo Genes that share ontologies with TBC1D10A: view

Pathways & Interactions for TBC1D10A Gene

genes like me logo Genes that share pathways with TBC1D10A: view

Pathways by source for TBC1D10A Gene

1 BioSystems pathway for TBC1D10A Gene
2 Reactome pathways for TBC1D10A Gene

Gene Ontology (GO) - Biological Process for TBC1D10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0042147 retrograde transport, endosome to Golgi IMP 17562788
GO:0045862 positive regulation of proteolysis IDA 18387192
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D10A: view

No data available for SIGNOR curated interactions for TBC1D10A Gene

Transcripts for TBC1D10A Gene

Unigene Clusters for TBC1D10A Gene

TBC1 domain family, member 10A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D10A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6: - - - - - - -
SP7: - - -
SP8:
SP9:

Relevant External Links for TBC1D10A Gene

GeneLoc Exon Structure for
TBC1D10A
ECgene alternative splicing isoforms for
TBC1D10A

Expression for TBC1D10A Gene

mRNA expression in normal human tissues for TBC1D10A Gene

Protein differential expression in normal tissues from HIPED for TBC1D10A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.7), Placenta (12.3), Breast (10.3), and Testis (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D10A Gene



Protein tissue co-expression partners for TBC1D10A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D10A Gene:

TBC1D10A

SOURCE GeneReport for Unigene cluster for TBC1D10A Gene:

Hs.655273
genes like me logo Genes that share expression patterns with TBC1D10A: view

Primer 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 TBC1D10A Gene

Orthologs for TBC1D10A Gene

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

Orthologs for TBC1D10A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D10A 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia TBC1D10A 34
  • 89.9 (n)
-- 35
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TBC1D10A 34 35
  • 89.59 (n)
mouse
(Mus musculus)
Mammalia Tbc1d10a 34 16 35
  • 88.07 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d10a 34
  • 87.72 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 79 (a)
OneToMany
TBC1D10A 34
  • 78.62 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d10a 34
  • 66.26 (n)
Str.17286 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10297 34
zebrafish
(Danio rerio)
Actinopterygii tbc1d10a 34 35
  • 71.56 (n)
si:ch211-87l2.1 35
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta wkd 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-10 34 35
  • 53.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSB4 35
  • 20 (a)
ManyToMany
MSB3 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6221 35
  • 50 (a)
OneToMany
Species where no ortholog for TBC1D10A was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 TBC1D10A Gene

ENSEMBL:
Gene Tree for TBC1D10A (if available)
TreeFam:
Gene Tree for TBC1D10A (if available)

Paralogs for TBC1D10A Gene

Variants for TBC1D10A Gene

Sequence variations from dbSNP and Humsavar for TBC1D10A Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10667105 -- 30,308,331(+) CCTGC(-/CTGCCTGC)ATGCC intron-variant
rs1079227 -- 30,303,139(-) CACAC(C/G)TGGCG intron-variant
rs11089442 -- 30,294,009(-) CTCCT(C/T)TATAT reference, synonymous-codon
rs111281613 -- 30,305,282(+) AGGGC(A/G)AGGGC intron-variant
rs111794981 -- 30,302,301(+) GCTGA(A/G)TGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D10A Gene

Variant ID Type Subtype PubMed ID
nsv1062388 CNV gain 25217958
nsv1110864 OTHER inversion 24896259
nsv3593 CNV deletion 18451855
nsv522605 CNV loss 19592680
nsv588885 CNV loss 21841781
nsv829171 CNV loss 20364138
nsv834174 CNV gain+loss 17160897

Variation tolerance for TBC1D10A Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D10A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D10A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D10A Gene

Disorders for TBC1D10A Gene

Relevant External Links for TBC1D10A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D10A

No disorders were found for TBC1D10A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D10A Gene

Publications for TBC1D10A Gene

  1. Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP. (PMID: 11285285) Reczek D. … Bretscher A. (J. Cell Biol. 2001) 2 3 4 64
  2. 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 64
  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 64
  4. Identification of EPI64 as a GTPase-activating protein specific for Rab27A. (PMID: 16923811) Itoh T. … Fukuda M. (J. Biol. Chem. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TBC1D10A Gene

Sources for TBC1D10A Gene

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