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Protein

Small G protein signaling modulator 3

Gene

SGSM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • cell cycle arrest Source: UniProtKB-KW
  • plasma membrane to endosome transport Source: UniProtKB
  • positive regulation of GTPase activity Source: GOC
  • Rap protein signal transduction Source: UniProtKB
  • regulation of Rab protein signal transduction Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell 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
ProteomesiUP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:25228. SGSM3.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162403194.

Polymorphism and mutation databases

BioMutaiSGSM3.
DMDMi74760858.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 749749Small G protein signaling modulator 3PRO_0000307810Add
BLAST

Proteomic databases

MaxQBiQ96HU1.
PaxDbiQ96HU1.
PRIDEiQ96HU1.

PTM databases

PhosphoSiteiQ96HU1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ96HU1.
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

Protein-protein interaction databases

BioGridi118164. 10 interactions.
IntActiQ96HU1. 1 interaction.
STRINGi9606.ENSP00000248929.

Structurei

3D structure databases

ProteinModelPortaliQ96HU1.
SMRiQ96HU1. Positions 94-345, 478-551.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini114 – 305192Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST
Domaini480 – 53960SH3PROSITE-ProRule annotationAdd
BLAST
Domaini555 – 718164RUNPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili415 – 43925Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation
Contains 1 RUN domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiCOG5210.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000007875.
HOVERGENiHBG108484.
InParanoidiQ96HU1.
OMAiHWFLTSF.
OrthoDBiEOG70KGP2.
PhylomeDBiQ96HU1.
TreeFamiTF317336.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR004012. Run.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
PF02759. RUN. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
SM00326. SH3. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
SSF50044. SSF50044. 1 hit.
PROSITEiPS50826. RUN. 1 hit.
PS50002. SH3. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201W → R.
Corresponds to variant rs9611338 [ dbSNP | Ensembl ].
VAR_051345
Natural varianti279 – 2791H → Q.
Corresponds to variant rs34243479 [ dbSNP | Ensembl ].
VAR_051346

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei456 – 4561V → VVSRQLPGLLPNTALTPPTP LVGLCSLWQ in isoform 2. 1 PublicationVSP_052561

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. Translation: CAQ08933.1.
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.
GeneIDi27352.
KEGGihsa:27352.
UCSCiuc003ayu.1. human. [Q96HU1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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. Translation: CAQ08933.1.
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.

3D structure databases

ProteinModelPortaliQ96HU1.
SMRiQ96HU1. Positions 94-345, 478-551.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118164. 10 interactions.
IntActiQ96HU1. 1 interaction.
STRINGi9606.ENSP00000248929.

PTM databases

PhosphoSiteiQ96HU1.

Polymorphism and mutation databases

BioMutaiSGSM3.
DMDMi74760858.

Proteomic databases

MaxQBiQ96HU1.
PaxDbiQ96HU1.
PRIDEiQ96HU1.

Protocols and materials databases

DNASUi27352.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi27352.
GeneCardsiGC22P040766.
HGNCiHGNC:25228. SGSM3.
HPAiHPA048980.
MIMi610440. gene.
neXtProtiNX_Q96HU1.
PharmGKBiPA162403194.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5210.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000007875.
HOVERGENiHBG108484.
InParanoidiQ96HU1.
OMAiHWFLTSF.
OrthoDBiEOG70KGP2.
PhylomeDBiQ96HU1.
TreeFamiTF317336.

Miscellaneous databases

ChiTaRSiSGSM3. human.
GenomeRNAii27352.
NextBioi50459.
PROiQ96HU1.
SOURCEiSearch...

Gene expression databases

BgeeiQ96HU1.
CleanExiHS_SGSM3.
ExpressionAtlasiQ96HU1. baseline and differential.
GenevisibleiQ96HU1. HS.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR004012. Run.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
PF02759. RUN. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
SM00326. SH3. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
SSF50044. SSF50044. 1 hit.
PROSITEiPS50826. RUN. 1 hit.
PS50002. SH3. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH NF2.
  2. "Identification of Rab GTPase-activating protein-like protein (RabGAPLP) as a novel Alix/AIP1-interacting protein."
    Ichioka F., Horii M., Katoh K., Terasawa Y., Shibata H., Maki M.
    Biosci. Biotechnol. Biochem. 69:861-865(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH PDCD6IP, SUBCELLULAR LOCATION.
    Tissue: Fetus1 Publication.
  3. "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 1), INTERACTION WITH RAB3A; RAB4A; RAB5A; RAB8A; RAB11A; RAP1A; RAP1B; RAP2A AND RAP2B, TISSUE SPECIFICITY.
    Tissue: Brain1 Publication.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 1).
    Tissue: RhabdomyosarcomaImported.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 615-749.
    Tissue: Amygdala.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiSGSM3_HUMAN
AccessioniPrimary (citable) accession number: Q96HU1
Secondary accession number(s): B0QY79, Q7Z709, Q9NT69
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 1, 2001
Last modified: July 22, 2015
This is version 111 of the entry and version 1 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

External Data

Dasty 3

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 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.