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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 TBC/RABGAPs. Gene Ontology (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

Additional gene information for TBC1D10A Gene

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

Genomics for TBC1D10A Gene

GeneHancer (GH) Regulatory Elements for TBC1D10A Gene

Promoters and enhancers for TBC1D10A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I030322 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.9 +0.1 126 8 HDGF PKNOX1 ARID4B SIN3A YY1 GLIS2 ZNF213 ATF7 RUNX3 SP3 TBC1D10A RNF215 CCDC157 CASTOR1 SEC14L3 TUG1 SF3A1 ENSG00000248751 SEC14L2 ENSG00000249590
GH22I030234 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.3 +80.3 80316 24.6 PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B ZNF416 ZNF143 FOS ZNF263 SP5 LIF LOC91370 TUG1 SF3A1 EWSR1 MORC2 PES1 RNF215 TBC1D10A ENSG00000272689
GH22I030415 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 24.7 -94.4 -94393 11.6 MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 RNF215 ENSG00000272689 ENSG00000273350 MTFP1 RNU6-564P TUG1 SF3A1 TBC1D10A SEC14L3 PES1
GH22I029552 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.5 +772.7 772705 3.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 THOC5 EWSR1 SF3A1 TBC1D10A NIPSNAP1 ENSG00000272858 RNF215 CCDC117 RHBDD3 LOC91370
GH22I030390 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.3 -64.4 -64398 1.4 ARID4B YBX1 IRF4 ZNF280A ARID2 ZNF143 FOS RUNX3 RXRA NCOA1 TBC1D10A CASTOR1 SF3A1 ENSG00000248751 DUSP18 OSM CCDC157 SEC14L3 ENSG00000181123 TUG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D10A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D10A gene promoter:

Genomic Locations for TBC1D10A Gene

Genomic Locations for TBC1D10A Gene
35,057 bases
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:
    Recommended name:
    TBC1 domain family member 10A
    Protein Accession:
    Secondary Accessions:
    • B3KXT8
    • O76053
    • Q20WK7
    • Q543A2

    Protein attributes for TBC1D10A Gene

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

    Alternative splice isoforms for TBC1D10A Gene


neXtProt entry for TBC1D10A Gene

Post-translational modifications for TBC1D10A Gene

  • Exists in both phosphorylated and non-phosphorylated state.
  • Ubiquitination at isoforms=2137 and posLast=322322
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D10A Gene

No data available for DME Specific Peptides for TBC1D10A Gene

Domains & Families for TBC1D10A Gene

Gene Families for TBC1D10A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D10A Gene

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
genes like me logo Genes that share domains with TBC1D10A: view

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.

Phenotypes From GWAS Catalog for TBC1D10A Gene

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 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

CRISPR Products

Inhibitory RNA 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D10A gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA 17562788
GO:0005902 microvillus TAS 11285285
GO:0012505 endomembrane system IBA --
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
3 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

Drugs & Compounds for TBC1D10A Gene

No Compound Related Data Available

Transcripts for TBC1D10A Gene

Unigene Clusters for TBC1D10A Gene

TBC1 domain family, member 10A:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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: - - -

Relevant External Links for TBC1D10A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D10A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for TBC1D10A Gene:


Evidence on tissue expression from TISSUES for TBC1D10A Gene

  • Nervous system(4.6)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with TBC1D10A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia TBC1D10A 33
  • 99.61 (n)
(Canis familiaris)
Mammalia TBC1D10A 33
  • 89.9 (n)
-- 34
  • 83 (a)
(Bos Taurus)
Mammalia TBC1D10A 33 34
  • 89.59 (n)
(Mus musculus)
Mammalia Tbc1d10a 33 16 34
  • 88.07 (n)
(Rattus norvegicus)
Mammalia Tbc1d10a 33
  • 87.72 (n)
(Gallus gallus)
Aves -- 34
  • 79 (a)
TBC1D10A 33
  • 78.62 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d10a 33
  • 66.26 (n)
Str.17286 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10297 33
(Danio rerio)
Actinopterygii tbc1d10a 33 34
  • 71.56 (n)
si:ch211-87l2.1 34
  • 33 (a)
fruit fly
(Drosophila melanogaster)
Insecta wkd 34
  • 43 (a)
(Caenorhabditis elegans)
Secernentea tbc-10 33 34
  • 53.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSB4 34
  • 20 (a)
MSB3 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6221 34
  • 50 (a)
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

Gene Tree for TBC1D10A (if available)
Gene Tree for TBC1D10A (if available)

Paralogs for TBC1D10A Gene

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

Variants for TBC1D10A Gene

Sequence variations from dbSNP and Humsavar for TBC1D10A Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000012631 -- 30,314,594(-) GAGGCCAGGAGTTTGAGA/GA intron_variant
rs1000252491 -- 30,319,790(-) C/A intron_variant
rs1000283457 -- 30,325,899(-) A/G intron_variant
rs1000566091 -- 30,326,914(-) C/T 5_prime_UTR_variant
rs1000568016 -- 30,327,451(-) G/C upstream_transcript_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)

Additional Variant Information for TBC1D10A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for TBC1D10A Gene

Additional Disease Information for 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 (The Journal of cell biology 2001) 2 3 4 58
  2. Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C. (PMID: 20404108) Hsu C … Simons M (The Journal of cell biology 2010) 2 3 58
  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 to cells : devoted to molecular & cellular mechanisms 2009) 3 4 58
  4. Identification of EPI64 as a GTPase-activating protein specific for Rab27A. (PMID: 16923811) Itoh T … Fukuda M (The Journal of biological chemistry 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TBC1D10A Gene

Sources for TBC1D10A Gene

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