Q96HU1 (SGSM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SGSM3
Synonyms:	MAP, RABGAPLP, RUTBC3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	749 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Cell cycle Growth arrest
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil SH3 domain
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Rap protein signal transduction Inferred from expression pattern Ref.3. Source: UniProtKB cell cycle arrest Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of Rab GTPase activity Inferred from electronic annotation. Source: GOC positive regulation of protein catabolic process Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell gap junction Inferred from electronic annotation. Source: Compara
Molecular_function	Rab GTPase activator activity Inferred from electronic annotation. Source: InterPro Rab GTPase binding Inferred from direct assay Ref.3. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 749	749	Small G protein signaling modulator 3		PRO_0000307810
Regions
	Domain	114 – 305	192	Rab-GAP TBC
	Domain	480 – 539	60	SH3
	Domain	555 – 718	164	RUN
	Coiled coil	415 – 439	25	Potential
Natural variations
	Alternative sequence	456	1	V → VVSRQLPGLLPNTALTPPTP LVGLCSLWQ in isoform 2. Ref.5 Ref.6		VSP_052561
	Natural variant	20	1	W → R. Corresponds to variant rs9611338 [ dbSNP | Ensembl ].		VAR_051345
	Natural variant	279	1	H → Q. Corresponds to variant rs34243479 [ dbSNP | Ensembl ].		VAR_051346

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 3DA4F7961EF79056	FASTA	749	85,354
	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
	Isoform 2 [UniParc]. Checksum: 4450A6D5C0E0C969	FASTA	777	88,308
	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 PKNCSVVSRQ LPGLLPNTAL TPPTPLVGLC 490 500 510 520 530 540 SLWQELTPDY SMESHQRDHE NYVACSRSHR RRAKALLDFE RHDDDELGFR KNDIITIVSQ 550 560 570 580 590 600 KDEHCWVGEL NGLRGWFPAK FVEVLDERSK EYSIAGDDSV TEGVTDLVRG TLCPALKALF 610 620 630 640 650 660 EHGLKKPSLL GGACHPWLFI EEAAGREVER DFASVYSRLV LCKTFRLDED GKVLTPEELL 670 680 690 700 710 720 YRAVQSVNVT HDAVHAQMDV KLRSLICVGL NEQVLHLWLE VLCSSLPTVE KWYQPWSFLR 730 740 750 760 770 SPGWVQIKCE LRVLCCFAFS LSQDWELPAK REAQQPLKEG VRDMLVKHHL FSWDVDG

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00236852. IPI00376350.
PIR	T46252.
RefSeq	NP_056520.2. NM_015705.4.
UniGene	Hs.474914.
3D structure databases
HSSP	HSSP built from PDB template 1UJ0 based on UniProtKB O88811.
ProteinModelPortal	Q96HU1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000248929.
PTM databases
PhosphoSite	Q96HU1.
Polymorphism databases
DMDM	74760858.
Proteomic databases
PaxDb	Q96HU1.
PRIDE	Q96HU1.
Protocols and materials databases
DNASU	27352.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000248929; ENSP00000248929; ENSG00000100359.
GeneID	27352.
KEGG	hsa:27352.
UCSC	uc003ayu.1. human.
Organism-specific databases
CTD	27352.
GeneCards	GC22P040766.
HGNC	HGNC:25228. SGSM3.
HPA	HPA048980.
MIM	610440. gene.
neXtProt	NX_Q96HU1.
PharmGKB	PA162403194.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5210.
HOGENOM	HOG000007875.
HOVERGEN	HBG108484.
InParanoid	Q96HU1.
OrthoDB	EOG4X97GJ.
Gene expression databases
ArrayExpress	Q96HU1.
Bgee	Q96HU1.
CleanEx	HS_SGSM3.
Genevestigator	Q96HU1.
Family and domain databases
InterPro	IPR000195. Rab-GTPase-TBC_dom. IPR004012. Run. IPR001452. SH3_domain. [Graphical view]
Pfam	PF00566. RabGAP-TBC. 1 hit. PF02759. RUN. 1 hit. PF00018. SH3_1. 1 hit. [Graphical view]
SMART	SM00593. RUN. 1 hit. SM00326. SH3. 1 hit. SM00164. TBC. 1 hit. [Graphical view]
SUPFAM	SSF47923. RabGAP_TBC. 2 hits. SSF50044. SH3. 1 hit.
PROSITE	PS50826. RUN. 1 hit. PS50002. SH3. 1 hit. PS50086. TBC_RABGAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SGSM3. human.
GenomeRNAi	27352.
NextBio	50459.
SOURCE	Search...

Entry information

Entry name

SGSM3_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 88 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.