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Aliases for TBC1D10A Gene

Aliases for TBC1D10A Gene

  • TBC1 Domain Family, Member 10A 2 3
  • EPI64 3 4 6
  • EBP50-PDX Interactor Of 64 KDa 3 4
  • EBP50-PDZ Interactor Of 64 KD 2 3
  • Rab27A-GAP-Alpha 3 4
  • TBC1D10 3 4
  • TBC1 Domain Family, Member 10 2
  • TBC1 Domain Family Member 10A 3
  • 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 Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBC1D10A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TBC1D10A Gene at MOPED

Post-translational modifications for TBC1D10A Gene

  • Exists in both phosphorylated and non-phosphorylated state
  • Ubiquitination at Lys137 and Lys322
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D10A Gene

Antibody Products

No data available for DME Specific Peptides for TBC1D10A Gene

Domains 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 :
  • Q9BXI6
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 --
GO:0005515 protein binding IPI 11285285
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 Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 2
cytoskeleton 1
endosome 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TBC1D10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 17562788
GO:0005902 microvillus TAS 11285285
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TBC1D10A: view

Pathways 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

Gene Ontology (GO) - Biological Process for TBC1D10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042147 retrograde transport, endosome to Golgi IMP 17562788
GO:0043547 positive regulation of GTPase activity IEA --
GO:0045862 positive regulation of proteolysis IDA 18387192
GO:0097202 activation of cysteine-type endopeptidase activity IDA 18387192
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D10A: view

Transcripts for TBC1D10A Gene

Unigene Clusters for TBC1D10A Gene

TBC1 domain family, member 10A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D10A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TBC1D10A

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D10A Gene

SOURCE GeneReport for Unigene cluster for TBC1D10A Gene Hs.655273

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

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 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 35
  • 99.61 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia TBC1D10A 35
  • 89.59 (n)
  • 89.72 (a)
TBC1D10A 36
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
OneToMany
TBC1D10A 35
  • 89.9 (n)
  • 91.34 (a)
mouse
(Mus musculus)
Mammalia Tbc1d10a 35
  • 88.07 (n)
  • 92 (a)
Tbc1d10a 16
Tbc1d10a 36
  • 92 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tbc1d10a 35
  • 87.72 (n)
  • 91.49 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 79 (a)
OneToMany
TBC1D10A 35
  • 78.62 (n)
  • 82.68 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 75 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.10297 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17286 35
tbc1d10a 35
  • 66.26 (n)
  • 69.11 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-87l2.1 36
  • 33 (a)
ManyToMany
tbc1d10a 35
  • 71.56 (n)
  • 76.87 (a)
tbc1d10a 36
  • 67 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta wkd 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-10 35
  • 53.72 (n)
  • 52.43 (a)
tbc-10 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSB3 36
  • 16 (a)
ManyToMany
MSB4 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6221 36
  • 50 (a)
OneToMany
Species with no ortholog for TBC1D10A:
  • 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

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 Sequence Context AA Info Type MAF
rs733079 -- 30,319,443(-) AGCAG(G/T)GAGCt intron-variant
rs737805 -- 30,295,318(+) AGGGC(A/C/G/T)GGATG intron-variant
rs737948 -- 30,311,708(+) AAAAG(A/C)AAAAC intron-variant
rs740219 -- 30,318,695(+) CAAGC(A/C)CTAAT intron-variant
rs757867 -- 30,319,213(+) TCCTG(C/T)AGGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829171 CNV Loss 20364138
dgv4954n71 CNV Loss 21882294
nsv914970 CNV Loss 21882294
nsv834174 CNV Gain+Loss 17160897
dgv4955n71 CNV Loss 21882294
nsv522605 CNV Loss 19592680
nsv3593 CNV Loss 18451855

Relevant External Links for TBC1D10A Gene

HapMap Linkage Disequilibrium report
TBC1D10A

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

Disorders for TBC1D10A Gene

No disorders were found for TBC1D10A Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  5. Identification of EPI64 as a GTPase-activating protein specific for Rab27A. (PMID: 16923811) Itoh T. … Fukuda M. (J. Biol. Chem. 2006) 3 4

Products for TBC1D10A Gene

Sources for TBC1D10A Gene

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