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Protein

Small G protein signaling modulator 1

Gene

SGSM1

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

Functioni

Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B.1 Publication

GO - Molecular functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
Small G protein signaling modulator 1
Alternative name(s):
RUN and TBC1 domain-containing protein 2
Gene namesi
Name:SGSM1
Synonyms:KIAA1941, RUTBC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:29410. SGSM1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle membrane Source: UniProtKB
  • cytosol Source: UniProtKB
  • endomembrane system Source: GO_Central
  • Golgi apparatus Source: UniProtKB-SubCell
  • intracellular Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi129049.
OpenTargetsiENSG00000167037.
PharmGKBiPA162403086.

Polymorphism and mutation databases

BioMutaiSGSM1.
DMDMi145566945.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002848331 – 1148Small G protein signaling modulator 1Add BLAST1148

Proteomic databases

MaxQBiQ2NKQ1.
PaxDbiQ2NKQ1.
PeptideAtlasiQ2NKQ1.
PRIDEiQ2NKQ1.

PTM databases

iPTMnetiQ2NKQ1.
PhosphoSitePlusiQ2NKQ1.

Expressioni

Tissue specificityi

Mainly expressed in brain, heart and testis.1 Publication

Gene expression databases

BgeeiENSG00000167037.
CleanExiHS_SGSM1.
ExpressionAtlasiQ2NKQ1. baseline and differential.
GenevisibleiQ2NKQ1. HS.

Organism-specific databases

HPAiHPA003986.

Interactioni

Subunit structurei

Interacts with RAB9A (GTP-bound form) and RAB9B (GTP-bound form); has much lower affinity for GDP-bound RAB9A and RAB9B (PubMed:22637480). Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CETN1Q127985EBI-10182463,EBI-2512818
CETN2P412085EBI-10182463,EBI-1789926
CETN3O151825EBI-10182463,EBI-712959

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi126182. 3 interactors.
IntActiQ2NKQ1. 3 interactors.
STRINGi9606.ENSP00000383212.

Structurei

3D structure databases

ProteinModelPortaliQ2NKQ1.
SMRiQ2NKQ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 190RUNPROSITE-ProRule annotationAdd BLAST155
Domaini617 – 1081Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST465

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni256 – 297Important for interaction with RAB9A and RAB9BBy similarityAdd BLAST42
Regioni301 – 350Required for interaction with RAP family membersAdd BLAST50

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.
HOVERGENiHBG108483.
InParanoidiQ2NKQ1.
OMAiEPKSACA.
OrthoDBiEOG091G01KZ.
PhylomeDBiQ2NKQ1.
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 (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q2NKQ1-1) [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
MASAPAEAET RQRLLRTVKK EVKQIMEEAV TRKFVHEDSS HIISFCAAVE
60 70 80 90 100
ACVLHGLRRR AAGFLRSNKI AALFMKVGKN FPPAEDLSRK VQDLEQLIES
110 120 130 140 150
ARNQIQGLQE NVRKLPKLPN LSPLAIKHLW IRTALFEKVL DKIVHYLVEN
160 170 180 190 200
SSKYYEKEAL LMDPVDGPIL ASLLVGPCAL EYTKMKTADH FWTDPSADEL
210 220 230 240 250
VQRHRIHSSH VRQDSPTKRP ALCIQKRHSS GSMDDRPSLS ARDYVESLHQ
260 270 280 290 300
NSRATLLYGK NNVLVQPRDD MEAVPGYLSL HQTADVMTLK WTPNQLMNGS
310 320 330 340 350
VGDLDYEKSV YWDYAMTIRL EEIVYLHCHQ QVDSGGTVVL VSQDGIQRPP
360 370 380 390 400
FRFPKGGHLL QFLSCLENGL LPHGQLDPPL WSQRGKGKVF PKLRKRSPQG
410 420 430 440 450
SAESTSSDKD DDEATDYVFR IIYPGMQSEF VAPDFLGSTS SVSVGPAWMM
460 470 480 490 500
VPAGRSMLVV ARGSQWEPAR WDTTLPTPSP KEQPPMPQDL MDVSVSNLPS
510 520 530 540 550
LWQPSPRKSS CSSCSQSGSA DGSSTNGCNH ERAPLKLLCD NMKYQILSRA
560 570 580 590 600
FYGWLAYCRH LSTVRTHLSA LVNHMIVSPD LPCDAGQGLT ARIWEQYLHD
610 620 630 640 650
STSYEEQELL RLIYYGGIQP EIRKAVWPFL LGHYQFGMTE TERKEVDEQI
660 670 680 690 700
HACYAQTMAE WLGCEAIVRQ RERESHAAAL AKCSSGASLD SHLHRMLHRD
710 720 730 740 750
STISNESSQS CSSGRQNIRL HSDSSSSTQV FESVDEVEQV EAEGRLEEKQ
760 770 780 790 800
PKIPNGNLVN GTCSPDSGHP SSHNFSSGLS EHSEPSLSTE DSVLDAQRNT
810 820 830 840 850
PTVLRPRDGS VDDRQSSEAT TSQDEAPREE LAVQDSLESD LLANESMDEF
860 870 880 890 900
MSITGSLDMA LPEKDDVVME GWRSSETEKH GQADSEDNLS EEPEMESLFP
910 920 930 940 950
ALASLAVTTS ANEVSPVSSS GVTYSPELLD LYTVNLHRIE KDVQRCDRNY
960 970 980 990 1000
WYFTPANLEK LRNIMCSYIW QHIEIGYVQG MCDLLAPLLV ILDDEALAFS
1010 1020 1030 1040 1050
CFTELMKRMN QNFPHGGAMD THFANMRSLI QILDSELFEL MHQNGDYTHF
1060 1070 1080 1090 1100
YFCYRWFLLD FKRELVYDDV FLVWETIWAA KHVSSAHYVL FIALALVEVY
1110 1120 1130 1140
RDIILENNMD FTDIIKFFNE MAERHNTKQV LKLARDLVYK VQTLIENK
Note: No experimental confirmation available.
Length:1,148
Mass (Da):129,718
Last modified:April 17, 2007 - v2
Checksum:iD619F453BA914376
GO
Isoform 2 (identifier: Q2NKQ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.
     133-133: T → TALFEKVLDK...QTADVMTLKS
     432-486: Missing.
     645-705: Missing.

Show »
Length:1,165
Mass (Da):132,058
Checksum:i44AA39CBA02C1B9C
GO
Isoform 3 (identifier: Q2NKQ1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     432-486: Missing.

Show »
Length:1,093
Mass (Da):123,840
Checksum:iE900FBC496D776CE
GO

Sequence cautioni

The sequence BAB85527 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031834802T → P.Corresponds to variant rs6004350dbSNPEnsembl.1
Natural variantiVAR_031835873R → K.Corresponds to variant rs2073201dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0246651 – 25Missing in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_024666133T → TALFEKVLDKIVHYLVENSS KYYEKEALLMDPVDGPILAS LLVGPCALEYTKMKTADHFW TDPSADELVQRHRIHSSHVR QDSPTKRPALCIQKRHSSGS MDDRPSLSARDYVESLHQNS RATLLYGKNNVLVQPRDDME AVPGYLSLHQTADVMTLKS in isoform 2. 2 Publications1
Alternative sequenceiVSP_024667432 – 486Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST55
Alternative sequenceiVSP_024668645 – 705Missing in isoform 2. 2 PublicationsAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB275761 mRNA. Translation: BAF63511.1.
AB449879 mRNA. Translation: BAH16622.1.
AB075821 mRNA. Translation: BAB85527.1. Different initiation.
AL049759, AP000359 Genomic DNA. Translation: CAQ08970.1.
AL049759, AP000359 Genomic DNA. Translation: CAQ08971.1.
BC036915 mRNA. No translation available.
CCDSiCCDS46674.1. [Q2NKQ1-1]
CCDS46675.1. [Q2NKQ1-4]
RefSeqiNP_001035037.1. NM_001039948.3. [Q2NKQ1-1]
NP_001091967.1. NM_001098497.2. [Q2NKQ1-4]
NP_001091968.1. NM_001098498.2.
NP_597711.1. NM_133454.3.
UniGeneiHs.474397.
Hs.620906.

Genome annotation databases

EnsembliENST00000400358; ENSP00000383211; ENSG00000167037. [Q2NKQ1-4]
ENST00000400359; ENSP00000383212; ENSG00000167037. [Q2NKQ1-1]
GeneIDi129049.
KEGGihsa:129049.
UCSCiuc003abg.3. human. [Q2NKQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB275761 mRNA. Translation: BAF63511.1.
AB449879 mRNA. Translation: BAH16622.1.
AB075821 mRNA. Translation: BAB85527.1. Different initiation.
AL049759, AP000359 Genomic DNA. Translation: CAQ08970.1.
AL049759, AP000359 Genomic DNA. Translation: CAQ08971.1.
BC036915 mRNA. No translation available.
CCDSiCCDS46674.1. [Q2NKQ1-1]
CCDS46675.1. [Q2NKQ1-4]
RefSeqiNP_001035037.1. NM_001039948.3. [Q2NKQ1-1]
NP_001091967.1. NM_001098497.2. [Q2NKQ1-4]
NP_001091968.1. NM_001098498.2.
NP_597711.1. NM_133454.3.
UniGeneiHs.474397.
Hs.620906.

3D structure databases

ProteinModelPortaliQ2NKQ1.
SMRiQ2NKQ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126182. 3 interactors.
IntActiQ2NKQ1. 3 interactors.
STRINGi9606.ENSP00000383212.

PTM databases

iPTMnetiQ2NKQ1.
PhosphoSitePlusiQ2NKQ1.

Polymorphism and mutation databases

BioMutaiSGSM1.
DMDMi145566945.

Proteomic databases

MaxQBiQ2NKQ1.
PaxDbiQ2NKQ1.
PeptideAtlasiQ2NKQ1.
PRIDEiQ2NKQ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400358; ENSP00000383211; ENSG00000167037. [Q2NKQ1-4]
ENST00000400359; ENSP00000383212; ENSG00000167037. [Q2NKQ1-1]
GeneIDi129049.
KEGGihsa:129049.
UCSCiuc003abg.3. human. [Q2NKQ1-1]

Organism-specific databases

CTDi129049.
DisGeNETi129049.
GeneCardsiSGSM1.
HGNCiHGNC:29410. SGSM1.
HPAiHPA003986.
MIMi611417. gene.
neXtProtiNX_Q2NKQ1.
OpenTargetsiENSG00000167037.
PharmGKBiPA162403086.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1648. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00550000074386.
HOVERGENiHBG108483.
InParanoidiQ2NKQ1.
OMAiEPKSACA.
OrthoDBiEOG091G01KZ.
PhylomeDBiQ2NKQ1.
TreeFamiTF318216.

Miscellaneous databases

ChiTaRSiSGSM1. human.
GeneWikiiSGSM1.
GenomeRNAii129049.
PROiQ2NKQ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167037.
CleanExiHS_SGSM1.
ExpressionAtlasiQ2NKQ1. baseline and differential.
GenevisibleiQ2NKQ1. 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 nameiSGSM1_HUMAN
AccessioniPrimary (citable) accession number: Q2NKQ1
Secondary accession number(s): A5LGW1
, A8MUT4, B0QYW0, B0QYW1, B5MEG1, B9A6J4, Q5TFL3, Q8TF60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: November 30, 2016
This is version 93 of the entry and version 2 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 22
    Human chromosome 22: 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.