UniProtKB - Q9BXI6 (TB10A_HUMAN)
Protein
TBC1 domain family member 10A
Gene
TBC1D10A
Organism
Homo sapiens (Human)
Status
Functioni
Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 156 | Arginine fingerBy similarity | 1 | |
Sitei | 197 | Glutamine fingerBy similarity | 1 |
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- GTPase activator activity Source: GO_Central
- guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
- PDZ domain binding Source: UniProtKB
GO - Biological processi
- activation of cysteine-type endopeptidase activity Source: BHF-UCL
- activation of GTPase activity Source: GO_Central
- intracellular protein transport Source: GO_Central
- positive regulation of proteolysis Source: BHF-UCL
- retrograde transport, endosome to Golgi Source: UniProtKB
Keywordsi
Molecular function | GTPase activation, Guanine-nucleotide releasing factor |
Enzyme and pathway databases
PathwayCommonsi | Q9BXI6 |
Reactomei | R-HSA-8854214, TBC/RABGAPs |
Names & Taxonomyi
Protein namesi | Recommended name: TBC1 domain family member 10AAlternative name(s): EBP50-PDX interactor of 64 kDa Short name: EPI64 protein Rab27A-GAP-alpha |
Gene namesi | Name:TBC1D10A Synonyms:EPI64, TBC1D10 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23609, TBC1D10A |
MIMi | 610020, gene |
neXtProti | NX_Q9BXI6 |
VEuPathDBi | HostDB:ENSG00000099992.15 |
Subcellular locationi
Other locations
- microvillus 1 Publication
Note: Localizes to the microvilli-rich region of the syncytiotrophoblast. In melanocytes, located at the periphery of cells.
Cytosol
- cytosol Source: GOC
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- microvillus Source: UniProtKB
Keywords - Cellular componenti
Cell projectionPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 157 | D → A: Loss of activity. No effect on subcellular location. 1 Publication | 1 | |
Mutagenesisi | 160 | R → K: Loss of activity. No effect on subcellular location. 1 Publication | 1 | |
Mutagenesisi | 508 | L → LA: Loss of interaction with EBP50 and impaired subcellular localization. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 83874 |
OpenTargetsi | ENSG00000099992 |
PharmGKBi | PA134888210 |
Miscellaneous databases
Pharosi | Q9BXI6, Tbio |
Genetic variation databases
BioMutai | TBC1D10A |
DMDMi | 20454903 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000208035 | 1 – 508 | TBC1 domain family member 10AAdd BLAST | 508 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 39 | PhosphoserineBy similarity | 1 | |
Modified residuei | 40 | PhosphoserineCombined sources | 1 | |
Modified residuei | 45 | PhosphoserineBy similarity | 1 | |
Modified residuei | 407 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Exists in both phosphorylated and non-phosphorylated state.
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9BXI6 |
jPOSTi | Q9BXI6 |
MassIVEi | Q9BXI6 |
MaxQBi | Q9BXI6 |
PaxDbi | Q9BXI6 |
PeptideAtlasi | Q9BXI6 |
PRIDEi | Q9BXI6 |
ProteomicsDBi | 79427 [Q9BXI6-1] 79428 [Q9BXI6-2] |
PTM databases
iPTMneti | Q9BXI6 |
PhosphoSitePlusi | Q9BXI6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000099992, Expressed in nasal cavity epithelium and 201 other tissues |
ExpressionAtlasi | Q9BXI6, baseline and differential |
Genevisiblei | Q9BXI6, HS |
Organism-specific databases
HPAi | ENSG00000099992, Low tissue specificity |
Interactioni
Subunit structurei
Binds to the first PDZ domain of SLC9A3R1 and SLC9A3R2.
Binary interactionsi
Hide detailsGO - Molecular functioni
- cadherin binding Source: BHF-UCL
- PDZ domain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123787, 27 interactors |
IntActi | Q9BXI6, 10 interactors |
MINTi | Q9BXI6 |
STRINGi | 9606.ENSP00000384996 |
Miscellaneous databases
RNActi | Q9BXI6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 111 – 299 | Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST | 189 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 505 – 508 | Binding to the PDZ domain of EBP50 | 4 |
Domaini
The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.By similarity
Phylogenomic databases
eggNOGi | KOG2221, Eukaryota |
GeneTreei | ENSGT00940000157386 |
InParanoidi | Q9BXI6 |
OMAi | DSAHHHS |
PhylomeDBi | Q9BXI6 |
TreeFami | TF313293 |
Family and domain databases
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf |
Pfami | View protein in Pfam PF00566, RabGAP-TBC, 1 hit |
SMARTi | View protein in SMART SM00164, TBC, 1 hit |
SUPFAMi | SSF47923, SSF47923, 2 hits |
PROSITEi | View protein in PROSITE PS50086, TBC_RABGAP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BXI6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAKSNGENGP RAPAAGESLS GTRESLAQGP DAATTDELSS LGSDSEANGF
60 70 80 90 100
AERRIDKFGF IVGSQGAEGA LEEVPLEVLR QRESKWLDML NNWDKWMAKK
110 120 130 140 150
HKKIRLRCQK GIPPSLRGRA WQYLSGGKVK LQQNPGKFDE LDMSPGDPKW
160 170 180 190 200
LDVIERDLHR QFPFHEMFVS RGGHGQQDLF RVLKAYTLYR PEEGYCQAQA
210 220 230 240 250
PIAAVLLMHM PAEQAFWCLV QICEKYLPGY YSEKLEAIQL DGEILFSLLQ
260 270 280 290 300
KVSPVAHKHL SRQKIDPLLY MTEWFMCAFS RTLPWSSVLR VWDMFFCEGV
310 320 330 340 350
KIIFRVGLVL LKHALGSPEK VKACQGQYET IERLRSLSPK IMQEAFLVQE
360 370 380 390 400
VVELPVTERQ IEREHLIQLR RWQETRGELQ CRSPPRLHGA KAILDAEPGP
410 420 430 440 450
RPALQPSPSI RLPLDAPLPG SKAKPKPPKQ AQKEQRKQMK GRGQLEKPPA
460 470 480 490 500
PNQAMVVAAA GDACPPQHVP PKDSAPKDSA PQDLAPQVSA HHRSQESLTS
QESEDTYL
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB5MD46 | B5MD46_HUMAN | TBC1 domain family member 10A | TBC1D10A hCG_41315 | 420 | Annotation score: | ||
F8WDN6 | F8WDN6_HUMAN | TBC1 domain family member 10A | TBC1D10A | 95 | Annotation score: | ||
F8W9Y7 | F8W9Y7_HUMAN | TBC1 domain family member 10A | TBC1D10A | 154 | Annotation score: | ||
F8WCD1 | F8WCD1_HUMAN | TBC1 domain family member 10A | TBC1D10A | 296 | Annotation score: |
Sequence cautioni
The sequence AAC23434 differs from that shown. Reason: Erroneous gene model prediction.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052541 | 411 | R → H. Corresponds to variant dbSNP:rs4823086Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043119 | 70 | A → APCPLLHR in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF331038 mRNA Translation: AAK35048.1 AB449894 mRNA Translation: BAH16637.1 CT841514 mRNA Translation: CAJ86444.1 AK074656 mRNA Translation: BAC11117.1 AK127939 mRNA Translation: BAG54600.1 AC004997 Genomic DNA Translation: AAC23434.1 Sequence problems. CH471095 Genomic DNA Translation: EAW59874.1 CH471095 Genomic DNA Translation: EAW59876.1 BC136815 mRNA Translation: AAI36816.1 BC142940 mRNA Translation: AAI42941.1 BC150214 mRNA Translation: AAI50215.1 |
CCDSi | CCDS13874.1 [Q9BXI6-1] CCDS56227.1 [Q9BXI6-2] |
RefSeqi | NP_001191169.1, NM_001204240.1 [Q9BXI6-2] NP_114143.1, NM_031937.2 [Q9BXI6-1] |
Genome annotation databases
Ensembli | ENST00000215790; ENSP00000215790; ENSG00000099992 [Q9BXI6-1] ENST00000403477; ENSP00000384996; ENSG00000099992 [Q9BXI6-2] |
GeneIDi | 83874 |
KEGGi | hsa:83874 |
UCSCi | uc003ahk.5, human [Q9BXI6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF331038 mRNA Translation: AAK35048.1 AB449894 mRNA Translation: BAH16637.1 CT841514 mRNA Translation: CAJ86444.1 AK074656 mRNA Translation: BAC11117.1 AK127939 mRNA Translation: BAG54600.1 AC004997 Genomic DNA Translation: AAC23434.1 Sequence problems. CH471095 Genomic DNA Translation: EAW59874.1 CH471095 Genomic DNA Translation: EAW59876.1 BC136815 mRNA Translation: AAI36816.1 BC142940 mRNA Translation: AAI42941.1 BC150214 mRNA Translation: AAI50215.1 |
CCDSi | CCDS13874.1 [Q9BXI6-1] CCDS56227.1 [Q9BXI6-2] |
RefSeqi | NP_001191169.1, NM_001204240.1 [Q9BXI6-2] NP_114143.1, NM_031937.2 [Q9BXI6-1] |
3D structure databases
SMRi | Q9BXI6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123787, 27 interactors |
IntActi | Q9BXI6, 10 interactors |
MINTi | Q9BXI6 |
STRINGi | 9606.ENSP00000384996 |
PTM databases
iPTMneti | Q9BXI6 |
PhosphoSitePlusi | Q9BXI6 |
Genetic variation databases
BioMutai | TBC1D10A |
DMDMi | 20454903 |
Proteomic databases
EPDi | Q9BXI6 |
jPOSTi | Q9BXI6 |
MassIVEi | Q9BXI6 |
MaxQBi | Q9BXI6 |
PaxDbi | Q9BXI6 |
PeptideAtlasi | Q9BXI6 |
PRIDEi | Q9BXI6 |
ProteomicsDBi | 79427 [Q9BXI6-1] 79428 [Q9BXI6-2] |
Protocols and materials databases
Antibodypediai | 220, 126 antibodies |
Genome annotation databases
Ensembli | ENST00000215790; ENSP00000215790; ENSG00000099992 [Q9BXI6-1] ENST00000403477; ENSP00000384996; ENSG00000099992 [Q9BXI6-2] |
GeneIDi | 83874 |
KEGGi | hsa:83874 |
UCSCi | uc003ahk.5, human [Q9BXI6-1] |
Organism-specific databases
CTDi | 83874 |
DisGeNETi | 83874 |
GeneCardsi | TBC1D10A |
HGNCi | HGNC:23609, TBC1D10A |
HPAi | ENSG00000099992, Low tissue specificity |
MIMi | 610020, gene |
neXtProti | NX_Q9BXI6 |
OpenTargetsi | ENSG00000099992 |
PharmGKBi | PA134888210 |
VEuPathDBi | HostDB:ENSG00000099992.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2221, Eukaryota |
GeneTreei | ENSGT00940000157386 |
InParanoidi | Q9BXI6 |
OMAi | DSAHHHS |
PhylomeDBi | Q9BXI6 |
TreeFami | TF313293 |
Enzyme and pathway databases
PathwayCommonsi | Q9BXI6 |
Reactomei | R-HSA-8854214, TBC/RABGAPs |
Miscellaneous databases
BioGRID-ORCSi | 83874, 8 hits in 999 CRISPR screens |
ChiTaRSi | TBC1D10A, human |
GeneWikii | TBC1D10A |
GenomeRNAii | 83874 |
Pharosi | Q9BXI6, Tbio |
PROi | PR:Q9BXI6 |
RNActi | Q9BXI6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000099992, Expressed in nasal cavity epithelium and 201 other tissues |
ExpressionAtlasi | Q9BXI6, baseline and differential |
Genevisiblei | Q9BXI6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf |
Pfami | View protein in Pfam PF00566, RabGAP-TBC, 1 hit |
SMARTi | View protein in SMART SM00164, TBC, 1 hit |
SUPFAMi | SSF47923, SSF47923, 2 hits |
PROSITEi | View protein in PROSITE PS50086, TBC_RABGAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TB10A_HUMAN | |
Accessioni | Q9BXI6Primary (citable) accession number: Q9BXI6 Secondary accession number(s): B3KXT8 Q543A2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2002 |
Last sequence update: | June 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 162 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot