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Protein

Small G protein signaling modulator 2

Gene

SGSM2

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

Functioni

Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).2 Publications

GO - Molecular functioni

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

GO - Biological processi

  • activation of GTPase activity Source: GO_Central
  • intracellular protein transport Source: GO_Central
  • late endosome to Golgi transport Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • regulation of vesicle fusion Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141258-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Small G protein signaling modulator 2
Alternative name(s):
RUN and TBC1 domain-containing protein 1
Gene namesi
Name:SGSM2
Synonyms:KIAA0397, RUTBC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:29026. SGSM2.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Melanosome 1 Publication

  • Note: Melanosomal localization is mediated by RAB9A.1 Publication

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endomembrane system Source: GO_Central
  • melanosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi803R → A: Loss of GTPase activator activity towards RAB32, RAB33B and RAB38. 2 Publications1

Organism-specific databases

DisGeNETi9905.
OpenTargetsiENSG00000141258.
PharmGKBiPA162403141.

Polymorphism and mutation databases

BioMutaiSGSM2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002846621 – 1006Small G protein signaling modulator 2Add BLAST1006

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei402PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43147.
PaxDbiO43147.
PeptideAtlasiO43147.
PRIDEiO43147.

PTM databases

iPTMnetiO43147.
PhosphoSitePlusiO43147.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000141258.
CleanExiHS_SGSM2.
ExpressionAtlasiO43147. baseline and differential.
GenevisibleiO43147. HS.

Organism-specific databases

HPAiHPA021641.
HPA024553.

Interactioni

Subunit structurei

Interacts with RAB4A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819). Interacts with RAB9A (PubMed:26620560, PubMed:21808068).3 Publications

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115234. 16 interactors.
IntActiO43147. 14 interactors.
MINTiMINT-1374191.
STRINGi9606.ENSP00000268989.

Structurei

3D structure databases

ProteinModelPortaliO43147.
SMRiO43147.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 191RUNPROSITE-ProRule annotationAdd BLAST158
Domaini566 – 939Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST374

Domaini

The Rab-GAP TBC domain possesses GTPase activator activity.2 Publications

Sequence similaritiesi

Belongs to the RUTBC family.Curated
Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation
Contains 1 RUN domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1648. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00550000074386.
HOGENOMiHOG000007057.
HOVERGENiHBG108483.
InParanoidiO43147.
OMAiHYKFGMA.
OrthoDBiEOG091G01KZ.
PhylomeDBiO43147.
TreeFamiTF318216.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR004012. Run_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
PF02759. RUN. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 3 hits.
PROSITEiPS50826. RUN. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43147-1) [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
MGSAEDAVKE KLLWNVKKEV KQIMEEAVTR KFVHEDSSHI IALCGAVEAC
60 70 80 90 100
LLHQLRRRAA GFLRSDKMAA LFTKVGKTCP VAGEICHKVQ ELQQQAEGRK
110 120 130 140 150
PSGVSQEALR RQGSASGKAP ALSPQALKHV WVRTALIEKV LDKVVQYLAE
160 170 180 190 200
NCSKYYEKEA LLADPVFGPI LASLLVGPCA LEYTKLKTAD HYWTDPSADE
210 220 230 240 250
LVQRHRIRGP PTRQDSPAKR PALGIRKRHS SGSASEDRLA ACARECVESL
260 270 280 290 300
HQNSRTRLLY GKNHVLVQPK EDMEAVPGYL SLHQSAESLT LKWTPNQLMN
310 320 330 340 350
GTLGDSELEK SVYWDYALVV PFSQVVCIHC HQQKSGGTLV LVSQDGIQRP
360 370 380 390 400
PLHFPQGGHL LSFLSCLENG LLPRGQLEPP LWTQQGKGKV FPKLRKRSSI
410 420 430 440 450
RSVDMEEMGT GRATDYVFRI IYPGHRHEHN AGDMIEMQGF GPSLPAWHLE
460 470 480 490 500
PLCSQGSSCL SCSSSSSPHA TPSHCSCIPD RLPLRLLCES MKRQIVSRAF
510 520 530 540 550
YGWLAHCRHL STVRTHLSAL VHHSVIPPDR PPGASAGLTK DVWSKYQKDK
560 570 580 590 600
KNYKELELLR QVYYGGIEHE IRKDVWPFLL GHYKFGMSKK EMEQVDAVVA
610 620 630 640 650
ARYQQVLAEW KACEVVVRQR EREAHPATRT KFSSGSSIDS HVQRLIHRDS
660 670 680 690 700
TISNDVFISV DDLEPPEPQD PEDSRPKPEQ EAGPGTPGTA VVEQQHSVEF
710 720 730 740 750
DSPDSGLPSS RNYSVASGIQ SSLDEGQSVG FEEEDGGGEE GSSGPGPAAH
760 770 780 790 800
TLREPQDPSQ EKPQAGELEA GEELAAVCAA AYTIELLDTV ALNLHRIDKD
810 820 830 840 850
VQRCDRNYWY FTPPNLERLR DVMCSYVWEH LDVGYVQGMC DLLAPLLVTL
860 870 880 890 900
DNDQLAYSCF SHLMKRMSQN FPNGGAMDTH FANMRSLIQI LDSELFELMH
910 920 930 940 950
QNGDYTHFYF CYRWFLLDFK RELLYEDVFA VWEVIWAARH ISSEHFVLFI
960 970 980 990 1000
ALALVEAYRE IIRDNNMDFT DIIKFFNERA EHHDAQEILR IARDLVHKVQ

MLIENK
Length:1,006
Mass (Da):113,285
Last modified:April 17, 2007 - v4
Checksum:i352F6F6D6017B570
GO
Isoform 2 (identifier: O43147-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-430: N → ITINYHHLAASRAASVDDDEEEEDKLHAMLSMICSRNLTAPNPMKD

Show »
Length:1,051
Mass (Da):118,307
Checksum:i9177DC83B1AA185E
GO
Isoform 3 (identifier: O43147-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-412: Missing.
     413-430: ATDYVFRIIYPGHRHEHN → MLSMICSRNLTAPNPMKD
     552-569: NYKELELLRQVYYGGIEH → VPTLGFQGHRSRGWGGQE
     570-1006: Missing.

Note: No experimental confirmation available.
Show »
Length:157
Mass (Da):17,218
Checksum:i4D53486B0319C6FF
GO
Isoform 5 (identifier: O43147-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     978-1006: ERAEHHDAQEILRIARDLVHKVQMLIENK → GTSLKTTCKK

Show »
Length:987
Mass (Da):110,858
Checksum:i2F4EDF687918B4BE
GO

Sequence cautioni

The sequence BAA23693 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti159E → G in BAG58030 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03179563L → M.2 PublicationsCorresponds to variant rs17853891dbSNPEnsembl.1
Natural variantiVAR_031796238R → K.2 PublicationsCorresponds to variant rs745400dbSNPEnsembl.1
Natural variantiVAR_031797244R → S.2 PublicationsCorresponds to variant rs17853888dbSNPEnsembl.1
Natural variantiVAR_031798329H → R.2 PublicationsCorresponds to variant rs17857178dbSNPEnsembl.1
Natural variantiVAR_031799374R → Q.2 PublicationsCorresponds to variant rs2248821dbSNPEnsembl.1
Natural variantiVAR_031800968D → V.2 PublicationsCorresponds to variant rs17857180dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0245941 – 412Missing in isoform 3. 1 PublicationAdd BLAST412
Alternative sequenceiVSP_024595413 – 430ATDYV…RHEHN → MLSMICSRNLTAPNPMKD in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_024596430N → ITINYHHLAASRAASVDDDE EEEDKLHAMLSMICSRNLTA PNPMKD in isoform 2. 2 Publications1
Alternative sequenceiVSP_024597552 – 569NYKEL…GGIEH → VPTLGFQGHRSRGWGGQE in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_024598570 – 1006Missing in isoform 3. 1 PublicationAdd BLAST437
Alternative sequenceiVSP_035964978 – 1006ERAEH…LIENK → GTSLKTTCKK in isoform 5. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB275762 mRNA. Translation: BAF63512.1.
AB007857 mRNA. Translation: BAA23693.3. Different initiation.
AK125203 mRNA. Translation: BAC86084.1.
AK294955 mRNA. Translation: BAG58030.1.
AC006435 Genomic DNA. No translation available.
AL450226 Genomic DNA. No translation available.
BC039204 mRNA. Translation: AAH39204.1.
BC040590 mRNA. No translation available.
CCDSiCCDS32526.1. [O43147-2]
CCDS45570.1. [O43147-1]
RefSeqiNP_001091979.1. NM_001098509.1. [O43147-1]
NP_055668.2. NM_014853.2. [O43147-2]
UniGeneiHs.513861.

Genome annotation databases

EnsembliENST00000268989; ENSP00000268989; ENSG00000141258. [O43147-2]
ENST00000426855; ENSP00000415107; ENSG00000141258. [O43147-1]
ENST00000574563; ENSP00000459126; ENSG00000141258. [O43147-5]
GeneIDi9905.
KEGGihsa:9905.
UCSCiuc002fum.5. human. [O43147-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB275762 mRNA. Translation: BAF63512.1.
AB007857 mRNA. Translation: BAA23693.3. Different initiation.
AK125203 mRNA. Translation: BAC86084.1.
AK294955 mRNA. Translation: BAG58030.1.
AC006435 Genomic DNA. No translation available.
AL450226 Genomic DNA. No translation available.
BC039204 mRNA. Translation: AAH39204.1.
BC040590 mRNA. No translation available.
CCDSiCCDS32526.1. [O43147-2]
CCDS45570.1. [O43147-1]
RefSeqiNP_001091979.1. NM_001098509.1. [O43147-1]
NP_055668.2. NM_014853.2. [O43147-2]
UniGeneiHs.513861.

3D structure databases

ProteinModelPortaliO43147.
SMRiO43147.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115234. 16 interactors.
IntActiO43147. 14 interactors.
MINTiMINT-1374191.
STRINGi9606.ENSP00000268989.

PTM databases

iPTMnetiO43147.
PhosphoSitePlusiO43147.

Polymorphism and mutation databases

BioMutaiSGSM2.

Proteomic databases

MaxQBiO43147.
PaxDbiO43147.
PeptideAtlasiO43147.
PRIDEiO43147.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268989; ENSP00000268989; ENSG00000141258. [O43147-2]
ENST00000426855; ENSP00000415107; ENSG00000141258. [O43147-1]
ENST00000574563; ENSP00000459126; ENSG00000141258. [O43147-5]
GeneIDi9905.
KEGGihsa:9905.
UCSCiuc002fum.5. human. [O43147-1]

Organism-specific databases

CTDi9905.
DisGeNETi9905.
GeneCardsiSGSM2.
H-InvDBHIX0173686.
HGNCiHGNC:29026. SGSM2.
HPAiHPA021641.
HPA024553.
MIMi611418. gene.
neXtProtiNX_O43147.
OpenTargetsiENSG00000141258.
PharmGKBiPA162403141.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1648. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00550000074386.
HOGENOMiHOG000007057.
HOVERGENiHBG108483.
InParanoidiO43147.
OMAiHYKFGMA.
OrthoDBiEOG091G01KZ.
PhylomeDBiO43147.
TreeFamiTF318216.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141258-MONOMER.

Miscellaneous databases

ChiTaRSiSGSM2. human.
GeneWikiiSGSM2.
GenomeRNAii9905.
PROiO43147.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141258.
CleanExiHS_SGSM2.
ExpressionAtlasiO43147. baseline and differential.
GenevisibleiO43147. HS.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR004012. Run_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
PF02759. RUN. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 3 hits.
PROSITEiPS50826. RUN. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSGSM2_HUMAN
AccessioniPrimary (citable) accession number: O43147
Secondary accession number(s): A5LGW2
, B4DH69, Q49AC2, Q6ZUY2, Q8IXU4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: November 2, 2016
This is version 114 of the entry and version 4 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, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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.