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Protein

TBC1 domain family member 2A

Gene

TBC1D2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

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

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

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

EuPathDBiHostDB:ENSG00000095383.19
HGNCiHGNC:18026 TBC1D2
MIMi609871 gene
neXtProtiNX_Q9BYX2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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, 8 interactors
MINTiQ9BYX2
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2058 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOVERGENiHBG059233
InParanoidiQ9BYX2
KOiK20165
OMAiNSEIHQV
OrthoDBiEOG091G01V8
PhylomeDBiQ9BYX2
TreeFamiTF317336

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50086 TBC_RABGAP, 1 hit

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 → T1 PublicationCorresponds to variant dbSNP:rs879368Ensembl.1
Natural variantiVAR_046708253L → S2 PublicationsCorresponds to variant dbSNP:rs879369Ensembl.1
Natural variantiVAR_046709261G → V3 PublicationsCorresponds to variant dbSNP:rs1573025Ensembl.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

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: July 13, 2010
Last modified: March 28, 2018
This is version 138 of the entry and version 3 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health