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Protein

TBC1 domain family member 10A

Gene

TBC1D10A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei156Arginine fingerBy similarity1
Sitei197Glutamine fingerBy similarity1

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • GTPase activator activity Source: GO_Central
  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • PDZ domain binding Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

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
  • regulation of vesicle fusion Source: GO_Central
  • retrograde transport, endosome to Golgi Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation, Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099992-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 10A
Alternative name(s):
EBP50-PDX interactor of 64 kDa
Short name:
EPI64 protein
Rab27A-GAP-alpha
Gene namesi
Name:TBC1D10A
Synonyms:EPI64, TBC1D10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:23609. TBC1D10A.

Subcellular locationi

  • Cell projectionmicrovillus 1 Publication

  • Note: Localizes to the microvilli-rich region of the syncytiotrophoblast. In melanocytes, located at the periphery of cells.

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • cytosol Source: GOC
  • endomembrane system Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • microvillus Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi157D → A: Loss of activity. No effect on subcellular location. 1 Publication1
Mutagenesisi160R → K: Loss of activity. No effect on subcellular location. 1 Publication1
Mutagenesisi508L → LA: Loss of interaction with EBP50 and impaired subcellular localization. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000099992.
PharmGKBiPA134888210.

Polymorphism and mutation databases

BioMutaiTBC1D10A.
DMDMi20454903.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080351 – 508TBC1 domain family member 10AAdd BLAST508

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei39PhosphoserineBy similarity1
Modified residuei40PhosphoserineCombined sources1
Modified residuei45PhosphoserineBy similarity1
Modified residuei407PhosphoserineCombined sources1

Post-translational modificationi

Exists in both phosphorylated and non-phosphorylated state.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BXI6.
PaxDbiQ9BXI6.
PeptideAtlasiQ9BXI6.
PRIDEiQ9BXI6.

PTM databases

iPTMnetiQ9BXI6.
PhosphoSitePlusiQ9BXI6.

Expressioni

Gene expression databases

BgeeiENSG00000099992.
CleanExiHS_TBC1D10A.
ExpressionAtlasiQ9BXI6. baseline and differential.
GenevisibleiQ9BXI6. HS.

Organism-specific databases

HPAiHPA008142.

Interactioni

Subunit structurei

Binds to the first PDZ domain of SLC9A3R1 and SLC9A3R2.

Binary interactionsi

WithEntry#Exp.IntActNotes
ACDQ96AP02EBI-7815040,EBI-717666
TEX13AQ9BXU35EBI-7815040,EBI-10301068

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • PDZ domain binding Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

Protein-protein interaction databases

BioGridi123787. 16 interactors.
IntActiQ9BXI6. 4 interactors.
MINTiMINT-195567.
STRINGi9606.ENSP00000384996.

Structurei

3D structure databases

ProteinModelPortaliQ9BXI6.
SMRiQ9BXI6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini111 – 299Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST189

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni505 – 508Binding to the PDZ domain of EBP504

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

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2221. Eukaryota.
ENOG410XPSR. LUCA.
GeneTreeiENSGT00860000133698.
HOGENOMiHOG000007561.
HOVERGENiHBG070028.
InParanoidiQ9BXI6.
KOiK19944.
OMAiQVSAHHC.
OrthoDBiEOG091G07CB.
PhylomeDBiQ9BXI6.
TreeFamiTF313293.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BXI6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:508
Mass (Da):57,118
Last modified:June 1, 2001 - v1
Checksum:i17BFAA85BE86DE84
GO
Isoform 2 (identifier: Q9BXI6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-70: A → APCPLLHR

Note: No experimental confirmation available.
Show »
Length:515
Mass (Da):57,935
Checksum:i5B94655DC0511B51
GO

Sequence cautioni

The sequence AAC23434 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052541411R → H.Corresponds to variant rs4823086dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04311970A → APCPLLHR in isoform 2. 1 Publication1

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.
CCDSiCCDS13874.1. [Q9BXI6-1]
CCDS56227.1. [Q9BXI6-2]
RefSeqiNP_001191169.1. NM_001204240.1. [Q9BXI6-2]
NP_114143.1. NM_031937.2. [Q9BXI6-1]
UniGeneiHs.655273.

Genome annotation databases

EnsembliENST00000215790; ENSP00000215790; ENSG00000099992. [Q9BXI6-1]
ENST00000403477; ENSP00000384996; ENSG00000099992. [Q9BXI6-2]
GeneIDi83874.
KEGGihsa:83874.
UCSCiuc003ahk.5. human. [Q9BXI6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS13874.1. [Q9BXI6-1]
CCDS56227.1. [Q9BXI6-2]
RefSeqiNP_001191169.1. NM_001204240.1. [Q9BXI6-2]
NP_114143.1. NM_031937.2. [Q9BXI6-1]
UniGeneiHs.655273.

3D structure databases

ProteinModelPortaliQ9BXI6.
SMRiQ9BXI6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123787. 16 interactors.
IntActiQ9BXI6. 4 interactors.
MINTiMINT-195567.
STRINGi9606.ENSP00000384996.

PTM databases

iPTMnetiQ9BXI6.
PhosphoSitePlusiQ9BXI6.

Polymorphism and mutation databases

BioMutaiTBC1D10A.
DMDMi20454903.

Proteomic databases

MaxQBiQ9BXI6.
PaxDbiQ9BXI6.
PeptideAtlasiQ9BXI6.
PRIDEiQ9BXI6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215790; ENSP00000215790; ENSG00000099992. [Q9BXI6-1]
ENST00000403477; ENSP00000384996; ENSG00000099992. [Q9BXI6-2]
GeneIDi83874.
KEGGihsa:83874.
UCSCiuc003ahk.5. human. [Q9BXI6-1]

Organism-specific databases

CTDi83874.
GeneCardsiTBC1D10A.
HGNCiHGNC:23609. TBC1D10A.
HPAiHPA008142.
MIMi610020. gene.
neXtProtiNX_Q9BXI6.
OpenTargetsiENSG00000099992.
PharmGKBiPA134888210.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2221. Eukaryota.
ENOG410XPSR. LUCA.
GeneTreeiENSGT00860000133698.
HOGENOMiHOG000007561.
HOVERGENiHBG070028.
InParanoidiQ9BXI6.
KOiK19944.
OMAiQVSAHHC.
OrthoDBiEOG091G07CB.
PhylomeDBiQ9BXI6.
TreeFamiTF313293.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099992-MONOMER.

Miscellaneous databases

ChiTaRSiTBC1D10A. human.
GeneWikiiTBC1D10A.
GenomeRNAii83874.
PROiQ9BXI6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099992.
CleanExiHS_TBC1D10A.
ExpressionAtlasiQ9BXI6. baseline and differential.
GenevisibleiQ9BXI6. HS.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTB10A_HUMAN
AccessioniPrimary (citable) accession number: Q9BXI6
Secondary accession number(s): B3KXT8
, O76053, Q20WK7, Q543A2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.