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Q96HU1 (SGSM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SGSM3
Synonyms:MAP, RABGAPLP, RUTBC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length749 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a cooperative role in NF2-mediated growth suppression of cells. Ref.1 Ref.3

Subunit structure

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. Ref.1 Ref.2 Ref.3 UniProtKB Q8VCZ6

Subcellular location

Cytoplasm Ref.2.

Tissue specificity

Widely expressed. Ref.3

Sequence similarities

Belongs to the small G protein signaling modulator family.

Contains 1 Rab-GAP TBC domain.

Contains 1 RUN domain.

Contains 1 SH3 domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.1 Ref.2 Ref.3 Ref.4 Ref.7 (identifier: Q96HU1-1)

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.
Isoform 2 Ref.5 Ref.6 (identifier: Q96HU1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     456-456: V → VVSRQLPGLLPNTALTPPTPLVGLCSLWQ
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 749749Small G protein signaling modulator 3
PRO_0000307810

Regions

Domain114 – 305192Rab-GAP TBC
Domain480 – 53960SH3
Domain555 – 718164RUN
Coiled coil415 – 43925 Potential

Natural variations

Alternative sequence4561V → VVSRQLPGLLPNTALTPPTP LVGLCSLWQ in isoform 2. Ref.5 Ref.6
VSP_052561
Natural variant201W → R.
Corresponds to variant rs9611338 [ dbSNP | Ensembl ].
VAR_051345
Natural variant2791H → Q.
Corresponds to variant rs34243479 [ dbSNP | Ensembl ].
VAR_051346

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 3DA4F7961EF79056

FASTA74985,354
        10         20         30         40         50         60 
MSGSHTPACG PFSALTPSIW PQEILAKYTQ KEESAEQPEF YYDEFGFRVY KEEGDEPGSS 

        70         80         90        100        110        120 
LLANSPLMED APQRLRWQAH LEFTHNHDVG DLTWDKIAVS LPRSEKLRSL VLAGIPHGMR 

       130        140        150        160        170        180 
PQLWMRLSGA LQKKRNSELS YREIVKNSSN DETIAAKQIE KDLLRTMPSN ACFASMGSIG 

       190        200        210        220        230        240 
VPRLRRVLRA LAWLYPEIGY CQGTGMVAAC LLLFLEEEDA FWMMSAIIED LLPASYFSTT 

       250        260        270        280        290        300 
LLGVQTDQRV LRHLIVQYLP RLDKLLQEHD IELSLITLHW FLTAFASVVD IKLLLRIWDL 

       310        320        330        340        350        360 
FFYEGSRVLF QLTLGMLHLK EEELIQSENS ASIFNTLSDI PSQMEDAELL LGVAMRLAGS 

       370        380        390        400        410        420 
LTDVAVETQR RKHLAYLIAD QGQLLGAGTL TNLSQVVRRR TQRRKSTITA LLFGEDDLEA 

       430        440        450        460        470        480 
LKAKNIKQTE LVADLREAIL RVARHFQCTD PKNCSVELTP DYSMESHQRD HENYVACSRS 

       490        500        510        520        530        540 
HRRRAKALLD FERHDDDELG FRKNDIITIV SQKDEHCWVG ELNGLRGWFP AKFVEVLDER 

       550        560        570        580        590        600 
SKEYSIAGDD SVTEGVTDLV RGTLCPALKA LFEHGLKKPS LLGGACHPWL FIEEAAGREV 

       610        620        630        640        650        660 
ERDFASVYSR LVLCKTFRLD EDGKVLTPEE LLYRAVQSVN VTHDAVHAQM DVKLRSLICV 

       670        680        690        700        710        720 
GLNEQVLHLW LEVLCSSLPT VEKWYQPWSF LRSPGWVQIK CELRVLCCFA FSLSQDWELP 

       730        740 
AKREAQQPLK EGVRDMLVKH HLFSWDVDG 

« Hide

Isoform 2 [UniParc].

Checksum: 4450A6D5C0E0C969
Show »

FASTA77788,308

References

« Hide 'large scale' references
[1]"MAP, a protein interacting with a tumor suppressor, merlin, through the run domain."
Lee I.K., Kim K.-S., Kim H., Lee J.Y., Ryu C.H., Chun H.J., Lee K.-U., Lim Y., Kim Y.H., Huh P.-W., Lee K.-H., Han S.-I., Jun T.-Y., Rha H.K.
Biochem. Biophys. Res. Commun. 325:774-783(2004) [PubMed] [Europe PMC] [Abstract]
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: Fetus.
[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: Brain.
[4]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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: Rhabdomyosarcoma.
[8]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 615-749.
Tissue: Amygdala.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS14002.1. [Q96HU1-1]
PIRT46252.
RefSeqNP_056520.2. NM_015705.4. [Q96HU1-1]
UniGeneHs.474914.

3D structure databases

ProteinModelPortalQ96HU1.
SMRQ96HU1. Positions 73-358, 478-551.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118164. 10 interactions.
IntActQ96HU1. 1 interaction.
STRING9606.ENSP00000248929.

PTM databases

PhosphoSiteQ96HU1.

Polymorphism databases

DMDM74760858.

Proteomic databases

MaxQBQ96HU1.
PaxDbQ96HU1.
PRIDEQ96HU1.

Protocols and materials databases

DNASU27352.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000248929; ENSP00000248929; ENSG00000100359. [Q96HU1-1]
GeneID27352.
KEGGhsa:27352.
UCSCuc003ayu.1. human. [Q96HU1-1]

Organism-specific databases

CTD27352.
GeneCardsGC22P040766.
HGNCHGNC:25228. SGSM3.
HPAHPA048980.
MIM610440. gene.
neXtProtNX_Q96HU1.
PharmGKBPA162403194.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5210.
HOGENOMHOG000007875.
HOVERGENHBG108484.
InParanoidQ96HU1.
OMAHWFLTSF.
OrthoDBEOG70KGP2.
PhylomeDBQ96HU1.
TreeFamTF317336.

Gene expression databases

ArrayExpressQ96HU1.
BgeeQ96HU1.
CleanExHS_SGSM3.
GenevestigatorQ96HU1.

Family and domain databases

InterProIPR000195. Rab-GTPase-TBC_dom.
IPR004012. Run.
IPR001452. SH3_domain.
[Graphical view]
PfamPF00566. RabGAP-TBC. 1 hit.
PF02759. RUN. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTSM00593. RUN. 1 hit.
SM00326. SH3. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMSSF47923. SSF47923. 2 hits.
SSF50044. SSF50044. 1 hit.
PROSITEPS50826. RUN. 1 hit.
PS50002. SH3. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSGSM3. human.
GenomeRNAi27352.
NextBio50459.
PROQ96HU1.
SOURCESearch...

Entry information

Entry nameSGSM3_HUMAN
AccessionPrimary (citable) accession number: Q96HU1
Secondary accession number(s): B0QY79, Q7Z709, Q9NT69
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM