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Protein

TBC1 domain family member 2A

Gene

TBC1D2

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 RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion.1 Publication

GO - Molecular functioni

  • cadherin binding Source: UniProtKB
  • GTPase activator activity Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000095383-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 2A
Alternative name(s):
Armus
Prostate antigen recognized and identified by SEREX 1
Short name:
PARIS-1
Gene namesi
Name:TBC1D2
Synonyms:PARIS1, PP8997, TBC1D2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:18026. TBC1D2.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB
  • cytoplasmic, membrane-bounded vesicle Source: UniProtKB-SubCell
  • cytoplasmic vesicle Source: UniProtKB
  • endomembrane system Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoplasmic vesicle

Pathology & Biotechi

Organism-specific databases

DisGeNETi55357.
OpenTargetsiENSG00000095383.
PharmGKBiPA38280.

Polymorphism and mutation databases

BioMutaiTBC1D2.
DMDMi300669706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080241 – 928TBC1 domain family member 2AAdd BLAST928

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei436PhosphoserineCombined sources1
Modified residuei915PhosphoserineCombined sources1
Modified residuei920PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BYX2.
MaxQBiQ9BYX2.
PaxDbiQ9BYX2.
PeptideAtlasiQ9BYX2.
PRIDEiQ9BYX2.

PTM databases

iPTMnetiQ9BYX2.
PhosphoSitePlusiQ9BYX2.

Expressioni

Tissue specificityi

Expressed in a broad range of tissues, especially in kidney, liver, lung and placenta. Also expressed in keratinocytes and epithelia-containing organs. Isoform 2 is differentially expressed in prostate normal and cancer cells (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000095383.
CleanExiHS_TBC1D2.
ExpressionAtlasiQ9BYX2. baseline and differential.
GenevisibleiQ9BYX2. HS.

Organism-specific databases

HPAiHPA030871.

Interactioni

Subunit structurei

Interacts with activated RAC1 and CDH1.1 Publication

GO - Molecular functioni

  • cadherin binding Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

Protein-protein interaction databases

BioGridi120637. 11 interactors.
IntActiQ9BYX2. 6 interactors.
MINTiMINT-4994578.
STRINGi9606.ENSP00000364207.

Structurei

Secondary structure

1928
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi49 – 54Combined sources6
Beta strandi58 – 61Combined sources4
Beta strandi65 – 72Combined sources8
Turni73 – 76Combined sources4
Beta strandi77 – 83Combined sources7
Beta strandi90 – 94Combined sources5
Helixi95 – 97Combined sources3
Beta strandi99 – 102Combined sources4
Helixi106 – 108Combined sources3
Beta strandi110 – 114Combined sources5
Beta strandi120 – 123Combined sources4
Helixi127 – 146Combined sources20
Beta strandi149 – 151Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DHKNMR-A46-151[»]
ProteinModelPortaliQ9BYX2.
SMRiQ9BYX2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BYX2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 142PHPROSITE-ProRule annotationAdd BLAST98
Domaini625 – 817Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST193

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 169Interaction with CADH1Add BLAST169
Regioni295 – 433Interaction with RAC11 PublicationAdd BLAST139

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili298 – 416Sequence analysisAdd BLAST119
Coiled coili875 – 913Sequence analysisAdd BLAST39

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi11 – 14Poly-Ser4

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2058. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOVERGENiHBG059233.
InParanoidiQ9BYX2.
KOiK20165.
OMAiVDQRVLQ.
OrthoDBiEOG091G01V8.
PhylomeDBiQ9BYX2.
TreeFamiTF317336.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BYX2-1) [UniParc]FASTAAdd to basket
Also known as: A variant C

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
MEGAGENAPE SSSSAPGSEE SARDPQVPPP EEESGDCARS LEAVPKKLCG
60 70 80 90 100
YLSKFGGKGP IRGWKSRWFF YDERKCQLYY SRTAQDANPL DSIDLSSAVF
110 120 130 140 150
DCKADAEEGI FEIKTPSRVI TLKAATKQAM LYWLQQLQMK RWEFHNSPPA
160 170 180 190 200
PPATPDAALA GNGPVLHLEL GQEEAELEEF LCPVKTPPGL VGVAAALQPF
210 220 230 240 250
PALQNISLKH LGTEIQNTMH NIRGNKQAQG TGHEPPGEDS PQSGEPQREE
260 270 280 290 300
QPLASDASTP GREPEDSPKP APKPSLTISF AQKAKRQNNT FPFFSEGITR
310 320 330 340 350
NRTAQEKVAA LEQQVLMLTK ELKSQKELVK ILHKALEAAQ QEKRASSAYL
360 370 380 390 400
AAAEDKDRLE LVRHKVRQIA ELGRRVEALE QERESLAHTA SLREQQVQEL
410 420 430 440 450
QQHVQLLMDK NHAKQQVICK LSEKVTQDFT HPPDQSPLRP DAANRDFLSQ
460 470 480 490 500
QGKIEHLKDD MEAYRTQNCF LNSEIHQVTK IWRKVAEKEK ALLTKCAYLQ
510 520 530 540 550
ARNCQVESKY LAGLRRLQEA LGDEASECSE LLRQLVQEAL QWEAGEASSD
560 570 580 590 600
SIELSPISKY DEYGFLTVPD YEVEDLKLLA KIQALESRSH HLLGLEAVDR
610 620 630 640 650
PLRERWAALG DLVPSAELKQ LLRAGVPREH RPRVWRWLVH LRVQHLHTPG
660 670 680 690 700
CYQELLSRGQ AREHPAARQI ELDLNRTFPN NKHFTCPTSS FPDKLRRVLL
710 720 730 740 750
AFSWQNPTIG YCQGLNRLAA IALLVLEEEE SAFWCLVAIV ETIMPADYYC
760 770 780 790 800
NTLTASQVDQ RVLQDLLSEK LPRLMAHLGQ HHVDLSLVTF NWFLVVFADS
810 820 830 840 850
LISNILLRVW DAFLYEGTKV VFRYALAIFK YNEKEILRLQ NGLEIYQYLR
860 870 880 890 900
FFTKTISNSR KLMNIAFNDM NPFRMKQLRQ LRMVHRERLE AELRELEQLK
910 920
AEYLERRASR RRAVSEGCAS EDEVEGEA
Length:928
Mass (Da):105,414
Last modified:July 13, 2010 - v3
Checksum:i08D7BC167B234CDA
GO
Isoform 2 (identifier: Q9BYX2-2) [UniParc]FASTAAdd to basket
Also known as: PARIS-1

The sequence of this isoform differs from the canonical sequence as follows:
     820-830: Missing.

Show »
Length:917
Mass (Da):104,105
Checksum:iA148C4FBEB6A34F8
GO
Isoform 3 (identifier: Q9BYX2-3) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     861-928: Missing.

Show »
Length:860
Mass (Da):97,297
Checksum:iDB37FA182BF2CFE4
GO
Isoform 4 (identifier: Q9BYX2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-218: Missing.

Show »
Length:710
Mass (Da):81,689
Checksum:iEE31BF185C793980
GO
Isoform 5 (identifier: Q9BYX2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-435: MEGAGENAPE...TQDFTHPPDQ → MPIPWTAST

Show »
Length:502
Mass (Da):58,237
Checksum:iF167260B51D9C1A0
GO
Isoform 6 (identifier: Q9BYX2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-460: Missing.

Show »
Length:468
Mass (Da):54,419
Checksum:iEBE63D409DFBB63F
GO

Sequence cautioni

The sequence CAB89247 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti189 – 195Missing in BAG60767 (PubMed:14702039).Curated7
Sequence conflicti459D → F in BAD92958 (Ref. 9) Curated1
Sequence conflicti473S → F in AAK07684 (PubMed:11785977).Curated1
Sequence conflicti634V → A in BAG54093 (PubMed:14702039).Curated1
Sequence conflicti840Q → H in AAL55877 (Ref. 3) Curated1
Sequence conflicti856I → T in BAG60767 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046707241P → T.1 PublicationCorresponds to variant rs879368dbSNPEnsembl.1
Natural variantiVAR_046708253L → S.2 PublicationsCorresponds to variant rs879369dbSNPEnsembl.1
Natural variantiVAR_046709261G → V.3 PublicationsCorresponds to variant rs1573025dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0393791 – 460Missing in isoform 6. 2 PublicationsAdd BLAST460
Alternative sequenceiVSP_0393801 – 435MEGAG…HPPDQ → MPIPWTAST in isoform 5. 1 PublicationAdd BLAST435
Alternative sequenceiVSP_0393811 – 218Missing in isoform 4. 1 PublicationAdd BLAST218
Alternative sequenceiVSP_039382820 – 830Missing in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_039383861 – 928Missing in isoform 3. 1 PublicationAdd BLAST68

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY026527 mRNA. Translation: AAK07684.1.
AB449882 mRNA. Translation: BAH16625.1.
AF318370 mRNA. Translation: AAL55877.1.
AK026105 mRNA. Translation: BAB15361.1.
AK124772 mRNA. Translation: BAG54093.1.
AK298575 mRNA. Translation: BAG60767.1.
AL353935 mRNA. Translation: CAB89247.2. Different initiation.
AL360081, AL137073, AL591502 Genomic DNA. Translation: CAH71887.1.
AL591502, AL137073, AL360081 Genomic DNA. Translation: CAI12580.1.
AL137073, AL360081, AL591502 Genomic DNA. Translation: CAI13885.1.
AL137073 Genomic DNA. Translation: CAI13894.1.
CH471105 Genomic DNA. Translation: EAW58882.1.
CH471105 Genomic DNA. Translation: EAW58884.1.
CH471105 Genomic DNA. Translation: EAW58887.1.
BC028918 mRNA. Translation: AAH28918.1.
BC071978 mRNA. Translation: AAH71978.1.
AB209721 mRNA. Translation: BAD92958.1.
CCDSiCCDS35080.1. [Q9BYX2-2]
CCDS59137.1. [Q9BYX2-6]
CCDS75865.1. [Q9BYX2-1]
PIRiJC7799.
T48686.
RefSeqiNP_001254500.1. NM_001267571.1. [Q9BYX2-1]
NP_001254501.1. NM_001267572.1. [Q9BYX2-6]
NP_060891.3. NM_018421.3. [Q9BYX2-2]
XP_011517145.1. XM_011518843.1. [Q9BYX2-6]
UniGeneiHs.371016.

Genome annotation databases

EnsembliENST00000342112; ENSP00000341567; ENSG00000095383. [Q9BYX2-4]
ENST00000375063; ENSP00000364203; ENSG00000095383. [Q9BYX2-6]
ENST00000375064; ENSP00000364205; ENSG00000095383. [Q9BYX2-3]
ENST00000375066; ENSP00000364207; ENSG00000095383. [Q9BYX2-2]
ENST00000465784; ENSP00000481721; ENSG00000095383. [Q9BYX2-1]
GeneIDi55357.
KEGGihsa:55357.
UCSCiuc004ayp.5. human. [Q9BYX2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY026527 mRNA. Translation: AAK07684.1.
AB449882 mRNA. Translation: BAH16625.1.
AF318370 mRNA. Translation: AAL55877.1.
AK026105 mRNA. Translation: BAB15361.1.
AK124772 mRNA. Translation: BAG54093.1.
AK298575 mRNA. Translation: BAG60767.1.
AL353935 mRNA. Translation: CAB89247.2. Different initiation.
AL360081, AL137073, AL591502 Genomic DNA. Translation: CAH71887.1.
AL591502, AL137073, AL360081 Genomic DNA. Translation: CAI12580.1.
AL137073, AL360081, AL591502 Genomic DNA. Translation: CAI13885.1.
AL137073 Genomic DNA. Translation: CAI13894.1.
CH471105 Genomic DNA. Translation: EAW58882.1.
CH471105 Genomic DNA. Translation: EAW58884.1.
CH471105 Genomic DNA. Translation: EAW58887.1.
BC028918 mRNA. Translation: AAH28918.1.
BC071978 mRNA. Translation: AAH71978.1.
AB209721 mRNA. Translation: BAD92958.1.
CCDSiCCDS35080.1. [Q9BYX2-2]
CCDS59137.1. [Q9BYX2-6]
CCDS75865.1. [Q9BYX2-1]
PIRiJC7799.
T48686.
RefSeqiNP_001254500.1. NM_001267571.1. [Q9BYX2-1]
NP_001254501.1. NM_001267572.1. [Q9BYX2-6]
NP_060891.3. NM_018421.3. [Q9BYX2-2]
XP_011517145.1. XM_011518843.1. [Q9BYX2-6]
UniGeneiHs.371016.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DHKNMR-A46-151[»]
ProteinModelPortaliQ9BYX2.
SMRiQ9BYX2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120637. 11 interactors.
IntActiQ9BYX2. 6 interactors.
MINTiMINT-4994578.
STRINGi9606.ENSP00000364207.

PTM databases

iPTMnetiQ9BYX2.
PhosphoSitePlusiQ9BYX2.

Polymorphism and mutation databases

BioMutaiTBC1D2.
DMDMi300669706.

Proteomic databases

EPDiQ9BYX2.
MaxQBiQ9BYX2.
PaxDbiQ9BYX2.
PeptideAtlasiQ9BYX2.
PRIDEiQ9BYX2.

Protocols and materials databases

DNASUi55357.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342112; ENSP00000341567; ENSG00000095383. [Q9BYX2-4]
ENST00000375063; ENSP00000364203; ENSG00000095383. [Q9BYX2-6]
ENST00000375064; ENSP00000364205; ENSG00000095383. [Q9BYX2-3]
ENST00000375066; ENSP00000364207; ENSG00000095383. [Q9BYX2-2]
ENST00000465784; ENSP00000481721; ENSG00000095383. [Q9BYX2-1]
GeneIDi55357.
KEGGihsa:55357.
UCSCiuc004ayp.5. human. [Q9BYX2-1]

Organism-specific databases

CTDi55357.
DisGeNETi55357.
GeneCardsiTBC1D2.
HGNCiHGNC:18026. TBC1D2.
HPAiHPA030871.
MIMi609871. gene.
neXtProtiNX_Q9BYX2.
OpenTargetsiENSG00000095383.
PharmGKBiPA38280.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2058. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOVERGENiHBG059233.
InParanoidiQ9BYX2.
KOiK20165.
OMAiVDQRVLQ.
OrthoDBiEOG091G01V8.
PhylomeDBiQ9BYX2.
TreeFamiTF317336.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000095383-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ9BYX2.
GenomeRNAii55357.
PROiQ9BYX2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000095383.
CleanExiHS_TBC1D2.
ExpressionAtlasiQ9BYX2. baseline and differential.
GenevisibleiQ9BYX2. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBD2A_HUMAN
AccessioniPrimary (citable) accession number: Q9BYX2
Secondary accession number(s): B3KWD1
, B4DQ05, B9A6J7, Q59EU0, Q5TBQ5, Q6IPC7, Q7L1K8, Q8WYT1, Q9H6A2, Q9NSH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: July 13, 2010
Last modified: November 2, 2016
This is version 129 of the entry and version 3 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

Miscellaneous

'Armus' means hinge, linker in Latin and ancient Greek.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.