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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

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...

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

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162403141.

Polymorphism and mutation databases

BioMutaiSGSM2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10061006Small G protein signaling modulator 2PRO_0000284662Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei402 – 4021PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO43147.
MaxQBiO43147.
PaxDbiO43147.
PeptideAtlasiO43147.
PRIDEiO43147.

PTM databases

iPTMnetiO43147.
PhosphoSiteiO43147.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiO43147.
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.1 Publication

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliO43147.
SMRiO43147. Positions 258-423.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 191158RUNPROSITE-ProRule annotationAdd
BLAST
Domaini566 – 939374Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

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.
OrthoDBiEOG7HXCQ8.
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 BAA23693.3 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti159 – 1591E → G in BAG58030 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631L → M.2 Publications
Corresponds to variant rs17853891 [ dbSNP | Ensembl ].
VAR_031795
Natural varianti238 – 2381R → K.2 Publications
Corresponds to variant rs745400 [ dbSNP | Ensembl ].
VAR_031796
Natural varianti244 – 2441R → S.2 Publications
Corresponds to variant rs17853888 [ dbSNP | Ensembl ].
VAR_031797
Natural varianti329 – 3291H → R.2 Publications
Corresponds to variant rs17857178 [ dbSNP | Ensembl ].
VAR_031798
Natural varianti374 – 3741R → Q.2 Publications
Corresponds to variant rs2248821 [ dbSNP | Ensembl ].
VAR_031799
Natural varianti968 – 9681D → V.2 Publications
Corresponds to variant rs17857180 [ dbSNP | Ensembl ].
VAR_031800

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 412412Missing in isoform 3. 1 PublicationVSP_024594Add
BLAST
Alternative sequencei413 – 43018ATDYV…RHEHN → MLSMICSRNLTAPNPMKD in isoform 3. 1 PublicationVSP_024595Add
BLAST
Alternative sequencei430 – 4301N → ITINYHHLAASRAASVDDDE EEEDKLHAMLSMICSRNLTA PNPMKD in isoform 2. 2 PublicationsVSP_024596
Alternative sequencei552 – 56918NYKEL…GGIEH → VPTLGFQGHRSRGWGGQE in isoform 3. 1 PublicationVSP_024597Add
BLAST
Alternative sequencei570 – 1006437Missing in isoform 3. 1 PublicationVSP_024598Add
BLAST
Alternative sequencei978 – 100629ERAEH…LIENK → GTSLKTTCKK in isoform 5. 1 PublicationVSP_035964Add
BLAST

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. Positions 258-423.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiO43147.
PhosphoSiteiO43147.

Polymorphism and mutation databases

BioMutaiSGSM2.

Proteomic databases

EPDiO43147.
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.
GeneCardsiSGSM2.
H-InvDBHIX0173686.
HGNCiHGNC:29026. SGSM2.
HPAiHPA021641.
HPA024553.
MIMi611418. gene.
neXtProtiNX_O43147.
PharmGKBiPA162403141.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1648. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00550000074386.
HOGENOMiHOG000007057.
HOVERGENiHBG108483.
InParanoidiO43147.
OMAiHYKFGMA.
OrthoDBiEOG7HXCQ8.
PhylomeDBiO43147.
TreeFamiTF318216.

Miscellaneous databases

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

Gene expression databases

BgeeiO43147.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway."
    Yang H., Sasaki T., Minoshima S., Shimizu N.
    Genomics 90:249-260(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS MET-63; LYS-238; SER-244; ARG-329; GLN-374 AND VAL-968, INTERACTION WITH RAB4A; RAB11A; RAP1A; RAP1B; RAP2A AND RAP2B, TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
    Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5).
    Tissue: Brain.
  5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS MET-63; LYS-238; SER-244; ARG-329; GLN-374 AND VAL-968.
    Tissue: Brain and Testis.

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: July 6, 2016
This is version 111 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.