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Protein

Small G protein signaling modulator 3

Gene

SGSM3

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

Functioni

May play a cooperative role in NF2-mediated growth suppression of cells.1 Publication

GO - Molecular functioni

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

GO - Biological processi

  • activation of GTPase activity Source: GO_Central
  • cell cycle arrest Source: UniProtKB-KW
  • intracellular protein transport Source: GO_Central
  • plasma membrane to endosome transport Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • positive regulation of protein catabolic process Source: Ensembl
  • Rap protein signal transduction Source: UniProtKB
  • regulation of Rab protein signal transduction Source: UniProtKB
  • regulation of vesicle fusion Source: GO_Central

Keywordsi

Biological processCell cycle, Growth arrest

Names & Taxonomyi

Protein namesi
Recommended name:
Small G protein signaling modulator 3
Alternative name(s):
Merlin-associated protein
RUN and TBC1 domain-containing protein 3
Rab-GTPase-activating protein-like protein
Short name:
RabGAPLP
Gene namesi
Name:SGSM3Imported
Synonyms:MAP1 Publication, RABGAPLPImported, RUTBC3Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100359.20
HGNCiHGNC:25228 SGSM3
MIMi610440 gene
neXtProtiNX_Q96HU1

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

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi27352
OpenTargetsiENSG00000100359
PharmGKBiPA162403194

Polymorphism and mutation databases

BioMutaiSGSM3
DMDMi74760858

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003078101 – 749Small G protein signaling modulator 3Add BLAST749

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei406PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96HU1
MaxQBiQ96HU1
PaxDbiQ96HU1
PeptideAtlasiQ96HU1
PRIDEiQ96HU1
ProteomicsDBi76785
76786 [Q96HU1-2]

PTM databases

iPTMnetiQ96HU1
PhosphoSitePlusiQ96HU1

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000100359
CleanExiHS_SGSM3
ExpressionAtlasiQ96HU1 baseline and differential
GenevisibleiQ96HU1 HS

Organism-specific databases

HPAiHPA048980

Interactioni

Subunit structurei

Interacts with GJA1. Interaction with GJA1 induces its degradation (By similarity). Interacts via its RUN domain with the C-terminal region of NF2. Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A, RAP2B and PDCD6IP. No interaction with RAB27A.By similarity3 Publications

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi118164, 16 interactors
IntActiQ96HU1, 2 interactors
MINTiQ96HU1
STRINGi9606.ENSP00000248929

Structurei

3D structure databases

ProteinModelPortaliQ96HU1
SMRiQ96HU1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini114 – 305Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST192
Domaini480 – 539SH3PROSITE-ProRule annotationAdd BLAST60
Domaini555 – 718RUNPROSITE-ProRule annotationAdd BLAST164

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili415 – 439Sequence analysisAdd BLAST25

Sequence similaritiesi

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiKOG2222 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOGENOMiHOG000007875
HOVERGENiHBG108484
InParanoidiQ96HU1
KOiK20176
OMAiFQVTLGM
OrthoDBiEOG091G02H8
PhylomeDBiQ96HU1
TreeFamiTF317336

Family and domain databases

CDDicd11813 SH3_SGSM3, 1 hit
InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR035833 SGSM3_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
PF02759 RUN, 1 hit
PF00018 SH3_1, 1 hit
SMARTiView protein in SMART
SM00593 RUN, 1 hit
SM00326 SH3, 1 hit
SM00164 TBC, 1 hit
SUPFAMiSSF140741 SSF140741, 2 hits
SSF47923 SSF47923, 2 hits
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50826 RUN, 1 hit
PS50002 SH3, 1 hit
PS50086 TBC_RABGAP, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 15 Publications (identifier: Q96HU1-1) [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
MSGSHTPACG PFSALTPSIW PQEILAKYTQ KEESAEQPEF YYDEFGFRVY
60 70 80 90 100
KEEGDEPGSS LLANSPLMED APQRLRWQAH LEFTHNHDVG DLTWDKIAVS
110 120 130 140 150
LPRSEKLRSL VLAGIPHGMR PQLWMRLSGA LQKKRNSELS YREIVKNSSN
160 170 180 190 200
DETIAAKQIE KDLLRTMPSN ACFASMGSIG VPRLRRVLRA LAWLYPEIGY
210 220 230 240 250
CQGTGMVAAC LLLFLEEEDA FWMMSAIIED LLPASYFSTT LLGVQTDQRV
260 270 280 290 300
LRHLIVQYLP RLDKLLQEHD IELSLITLHW FLTAFASVVD IKLLLRIWDL
310 320 330 340 350
FFYEGSRVLF QLTLGMLHLK EEELIQSENS ASIFNTLSDI PSQMEDAELL
360 370 380 390 400
LGVAMRLAGS LTDVAVETQR RKHLAYLIAD QGQLLGAGTL TNLSQVVRRR
410 420 430 440 450
TQRRKSTITA LLFGEDDLEA LKAKNIKQTE LVADLREAIL RVARHFQCTD
460 470 480 490 500
PKNCSVELTP DYSMESHQRD HENYVACSRS HRRRAKALLD FERHDDDELG
510 520 530 540 550
FRKNDIITIV SQKDEHCWVG ELNGLRGWFP AKFVEVLDER SKEYSIAGDD
560 570 580 590 600
SVTEGVTDLV RGTLCPALKA LFEHGLKKPS LLGGACHPWL FIEEAAGREV
610 620 630 640 650
ERDFASVYSR LVLCKTFRLD EDGKVLTPEE LLYRAVQSVN VTHDAVHAQM
660 670 680 690 700
DVKLRSLICV GLNEQVLHLW LEVLCSSLPT VEKWYQPWSF LRSPGWVQIK
710 720 730 740
CELRVLCCFA FSLSQDWELP AKREAQQPLK EGVRDMLVKH HLFSWDVDG
Length:749
Mass (Da):85,354
Last modified:December 1, 2001 - v1
Checksum:i3DA4F7961EF79056
GO
Isoform 21 Publication (identifier: Q96HU1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     456-456: V → VVSRQLPGLLPNTALTPPTPLVGLCSLWQ

Note: Gene prediction based on EST data.Curated
Show »
Length:777
Mass (Da):88,308
Checksum:i4450A6D5C0E0C969
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05134520W → R. Corresponds to variant dbSNP:rs9611338Ensembl.1
Natural variantiVAR_051346279H → Q. Corresponds to variant dbSNP:rs34243479Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052561456V → VVSRQLPGLLPNTALTPPTP LVGLCSLWQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY308849 mRNA Translation: AAQ81879.1
AB196956 mRNA Translation: BAE02561.1
AB275763 mRNA Translation: BAF63513.1
CR456441 mRNA Translation: CAG30327.1
AL022238 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60378.1
CH471095 Genomic DNA Translation: EAW60379.1
BC008078 mRNA Translation: AAH08078.1
AL137499 mRNA Translation: CAB70773.1
CCDSiCCDS14002.1 [Q96HU1-1]
PIRiT46252
RefSeqiNP_001288778.1, NM_001301849.1
NP_056520.2, NM_015705.5 [Q96HU1-1]
UniGeneiHs.474914

Genome annotation databases

EnsembliENST00000248929; ENSP00000248929; ENSG00000100359 [Q96HU1-1]
GeneIDi27352
KEGGihsa:27352
UCSCiuc003ayu.2 human [Q96HU1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSGSM3_HUMAN
AccessioniPrimary (citable) accession number: Q96HU1
Secondary accession number(s): B0QY79, Q7Z709, Q9NT69
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 138 of the entry and version 1 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

Complete proteome, Reference proteome

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