UniProtKB - O43147 (SGSM2_HUMAN)
Protein
Small G protein signaling modulator 2
Gene
SGSM2
Organism
Homo sapiens (Human)
Status
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
Keywordsi
Molecular function | GTPase activation |
Enzyme and pathway databases
PathwayCommonsi | O43147 |
Names & Taxonomyi
Protein namesi | Recommended name: Small G protein signaling modulator 2Alternative name(s): RUN and TBC1 domain-containing protein 1 |
Gene namesi | Name:SGSM2 Synonyms:KIAA0397, RUTBC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000141258.12 |
HGNCi | HGNC:29026, SGSM2 |
MIMi | 611418, gene |
neXtProti | NX_O43147 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
- Melanosome 1 Publication
Note: Melanosomal localization is mediated by RAB9A.1 Publication
Other locations
- cytoplasm Source: UniProtKB
- melanosome Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 803 | R → A: Loss of GTPase activator activity towards RAB32, RAB33B and RAB38. 2 Publications | 1 |
Organism-specific databases
DisGeNETi | 9905 |
OpenTargetsi | ENSG00000141258 |
PharmGKBi | PA162403141 |
Miscellaneous databases
Pharosi | O43147, Tbio |
Polymorphism and mutation databases
BioMutai | SGSM2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000284662 | 1 – 1006 | Small G protein signaling modulator 2Add BLAST | 1006 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 402 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O43147 |
jPOSTi | O43147 |
MassIVEi | O43147 |
MaxQBi | O43147 |
PaxDbi | O43147 |
PeptideAtlasi | O43147 |
PRIDEi | O43147 |
ProteomicsDBi | 48761 [O43147-1] 48762 [O43147-2] 48763 [O43147-3] 48764 [O43147-5] |
PTM databases
iPTMneti | O43147 |
PhosphoSitePlusi | O43147 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000141258, Expressed in cauda epididymis and 236 other tissues |
ExpressionAtlasi | O43147, baseline and differential |
Genevisiblei | O43147, HS |
Organism-specific databases
HPAi | ENSG00000141258, Low tissue specificity |
Interactioni
Subunit structurei
GO - Molecular functioni
- Rab GTPase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115234, 25 interactors |
IntActi | O43147, 16 interactors |
STRINGi | 9606.ENSP00000268989 |
Miscellaneous databases
RNActi | O43147, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 34 – 191 | RUNPROSITE-ProRule annotationAdd BLAST | 158 | |
Domaini | 566 – 939 | Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST | 374 |
Domaini
The Rab-GAP TBC domain possesses GTPase activator activity.2 Publications
Sequence similaritiesi
Belongs to the RUTBC family.Curated
Phylogenomic databases
eggNOGi | KOG1648, Eukaryota |
GeneTreei | ENSGT00940000159315 |
HOGENOMi | CLU_006235_0_0_1 |
InParanoidi | O43147 |
OMAi | FLATHPI |
OrthoDBi | 171826at2759 |
PhylomeDBi | O43147 |
TreeFami | TF318216 |
Family and domain databases
CDDi | cd15784, PH_RUTBC, 1 hit |
Gene3Di | 1.20.58.900, 1 hit |
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf IPR004012, Run_dom IPR037213, Run_dom_sf IPR037745, SGSM1/2 IPR021935, SGSM1/2_RBD |
Pfami | View protein in Pfam PF12068, PH_RBD, 1 hit PF00566, RabGAP-TBC, 1 hit PF02759, RUN, 1 hit |
SMARTi | View protein in SMART SM00593, RUN, 1 hit SM00164, TBC, 1 hit |
SUPFAMi | SSF140741, SSF140741, 1 hit SSF47923, SSF47923, 2 hits |
PROSITEi | View protein in PROSITE PS50826, RUN, 1 hit PS50086, TBC_RABGAP, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O43147-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketV9GYJ0 | V9GYJ0_HUMAN | Small G protein-signaling modulator... | SGSM2 | 316 | Annotation score: | ||
V9GYD2 | V9GYD2_HUMAN | Small G protein-signaling modulator... | SGSM2 | 70 | Annotation score: | ||
J3QSA2 | J3QSA2_HUMAN | Small G protein-signaling modulator... | SGSM2 | 114 | Annotation score: | ||
I3L361 | I3L361_HUMAN | Small G protein-signaling modulator... | SGSM2 | 95 | Annotation score: | ||
I3NI18 | I3NI18_HUMAN | Small G protein-signaling modulator... | SGSM2 | 36 | Annotation score: | ||
I3L1Y7 | I3L1Y7_HUMAN | Small G protein-signaling modulator... | SGSM2 | 29 | Annotation score: |
Sequence cautioni
The sequence BAA23693 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 159 | E → G in BAG58030 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031795 | 63 | L → M2 PublicationsCorresponds to variant dbSNP:rs17853891Ensembl. | 1 | |
Natural variantiVAR_031796 | 238 | R → K2 PublicationsCorresponds to variant dbSNP:rs745400Ensembl. | 1 | |
Natural variantiVAR_031797 | 244 | R → S2 PublicationsCorresponds to variant dbSNP:rs17853888Ensembl. | 1 | |
Natural variantiVAR_031798 | 329 | H → R2 PublicationsCorresponds to variant dbSNP:rs17857178Ensembl. | 1 | |
Natural variantiVAR_031799 | 374 | R → Q2 PublicationsCorresponds to variant dbSNP:rs2248821Ensembl. | 1 | |
Natural variantiVAR_031800 | 968 | D → V2 PublicationsCorresponds to variant dbSNP:rs17857180Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024594 | 1 – 412 | Missing in isoform 3. 1 PublicationAdd BLAST | 412 | |
Alternative sequenceiVSP_024595 | 413 – 430 | ATDYV…RHEHN → MLSMICSRNLTAPNPMKD in isoform 3. 1 PublicationAdd BLAST | 18 | |
Alternative sequenceiVSP_024596 | 430 | N → ITINYHHLAASRAASVDDDE EEEDKLHAMLSMICSRNLTA PNPMKD in isoform 2. 2 Publications | 1 | |
Alternative sequenceiVSP_024597 | 552 – 569 | NYKEL…GGIEH → VPTLGFQGHRSRGWGGQE in isoform 3. 1 PublicationAdd BLAST | 18 | |
Alternative sequenceiVSP_024598 | 570 – 1006 | Missing in isoform 3. 1 PublicationAdd BLAST | 437 | |
Alternative sequenceiVSP_035964 | 978 – 1006 | ERAEH…LIENK → GTSLKTTCKK in isoform 5. 1 PublicationAdd BLAST | 29 |
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. |
CCDSi | CCDS32526.1 [O43147-2] CCDS45570.1 [O43147-1] CCDS86557.1 [O43147-5] |
RefSeqi | NP_001091979.1, NM_001098509.1 [O43147-1] NP_001333629.1, NM_001346700.1 [O43147-5] NP_055668.2, NM_014853.2 [O43147-2] |
Genome annotation databases
Ensembli | ENST00000268989; ENSP00000268989; ENSG00000141258 [O43147-2] ENST00000426855; ENSP00000415107; ENSG00000141258 [O43147-1] ENST00000574563; ENSP00000459126; ENSG00000141258 [O43147-5] |
GeneIDi | 9905 |
KEGGi | hsa:9905 |
UCSCi | uc002fum.5, human [O43147-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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. |
CCDSi | CCDS32526.1 [O43147-2] CCDS45570.1 [O43147-1] CCDS86557.1 [O43147-5] |
RefSeqi | NP_001091979.1, NM_001098509.1 [O43147-1] NP_001333629.1, NM_001346700.1 [O43147-5] NP_055668.2, NM_014853.2 [O43147-2] |
3D structure databases
SMRi | O43147 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115234, 25 interactors |
IntActi | O43147, 16 interactors |
STRINGi | 9606.ENSP00000268989 |
PTM databases
iPTMneti | O43147 |
PhosphoSitePlusi | O43147 |
Polymorphism and mutation databases
BioMutai | SGSM2 |
Proteomic databases
EPDi | O43147 |
jPOSTi | O43147 |
MassIVEi | O43147 |
MaxQBi | O43147 |
PaxDbi | O43147 |
PeptideAtlasi | O43147 |
PRIDEi | O43147 |
ProteomicsDBi | 48761 [O43147-1] 48762 [O43147-2] 48763 [O43147-3] 48764 [O43147-5] |
Protocols and materials databases
Antibodypediai | 10736, 80 antibodies |
Genome annotation databases
Ensembli | ENST00000268989; ENSP00000268989; ENSG00000141258 [O43147-2] ENST00000426855; ENSP00000415107; ENSG00000141258 [O43147-1] ENST00000574563; ENSP00000459126; ENSG00000141258 [O43147-5] |
GeneIDi | 9905 |
KEGGi | hsa:9905 |
UCSCi | uc002fum.5, human [O43147-1] |
Organism-specific databases
CTDi | 9905 |
DisGeNETi | 9905 |
EuPathDBi | HostDB:ENSG00000141258.12 |
GeneCardsi | SGSM2 |
HGNCi | HGNC:29026, SGSM2 |
HPAi | ENSG00000141258, Low tissue specificity |
MIMi | 611418, gene |
neXtProti | NX_O43147 |
OpenTargetsi | ENSG00000141258 |
PharmGKBi | PA162403141 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1648, Eukaryota |
GeneTreei | ENSGT00940000159315 |
HOGENOMi | CLU_006235_0_0_1 |
InParanoidi | O43147 |
OMAi | FLATHPI |
OrthoDBi | 171826at2759 |
PhylomeDBi | O43147 |
TreeFami | TF318216 |
Enzyme and pathway databases
PathwayCommonsi | O43147 |
Miscellaneous databases
BioGRID-ORCSi | 9905, 33 hits in 843 CRISPR screens |
ChiTaRSi | SGSM2, human |
GeneWikii | SGSM2 |
GenomeRNAii | 9905 |
Pharosi | O43147, Tbio |
PROi | PR:O43147 |
RNActi | O43147, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141258, Expressed in cauda epididymis and 236 other tissues |
ExpressionAtlasi | O43147, baseline and differential |
Genevisiblei | O43147, HS |
Family and domain databases
CDDi | cd15784, PH_RUTBC, 1 hit |
Gene3Di | 1.20.58.900, 1 hit |
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf IPR004012, Run_dom IPR037213, Run_dom_sf IPR037745, SGSM1/2 IPR021935, SGSM1/2_RBD |
Pfami | View protein in Pfam PF12068, PH_RBD, 1 hit PF00566, RabGAP-TBC, 1 hit PF02759, RUN, 1 hit |
SMARTi | View protein in SMART SM00593, RUN, 1 hit SM00164, TBC, 1 hit |
SUPFAMi | SSF140741, SSF140741, 1 hit SSF47923, SSF47923, 2 hits |
PROSITEi | View protein in PROSITE PS50826, RUN, 1 hit PS50086, TBC_RABGAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SGSM2_HUMAN | |
Accessioni | O43147Primary (citable) accession number: O43147 Secondary accession number(s): A5LGW2 Q8IXU4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 17, 2007 |
Last sequence update: | April 17, 2007 | |
Last modified: | December 2, 2020 | |
This is version 138 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations