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Q96HU1

- SGSM3_HUMAN

UniProt

Q96HU1 - SGSM3_HUMAN

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Protein
Small G protein signaling modulator 3
Gene
SGSM3, MAP, RABGAPLP, RUTBC3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play a cooperative role in NF2-mediated growth suppression of cells.2 Publications

GO - Molecular functioni

  1. Rab GTPase activator activity Source: InterPro
  2. Rab GTPase binding Source: UniProtKB
  3. protein binding Source: UniProtKB

GO - Biological processi

  1. Rap protein signal transduction Source: UniProtKB
  2. cell cycle arrest Source: UniProtKB-KW
  3. positive regulation of protein catabolic process Source: Ensembl
  4. 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:SGSM3
Synonyms:MAP, RABGAPLP, RUTBC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:25228. SGSM3.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. gap junction Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162403194.

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiQ96HU1.
PaxDbiQ96HU1.
PRIDEiQ96HU1.

PTM databases

PhosphoSiteiQ96HU1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

ArrayExpressiQ96HU1.
BgeeiQ96HU1.
CleanExiHS_SGSM3.
GenevestigatoriQ96HU1.

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 73-358, 478-551.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini114 – 305192Rab-GAP TBC
Add
BLAST
Domaini480 – 53960SH3
Add
BLAST
Domaini555 – 718164RUN
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili415 – 43925 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.
Contains 1 RUN domain.
Contains 1 SH3 domain.

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiCOG5210.
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. Align

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

MSGSHTPACG PFSALTPSIW PQEILAKYTQ KEESAEQPEF YYDEFGFRVY    50
KEEGDEPGSS LLANSPLMED APQRLRWQAH LEFTHNHDVG DLTWDKIAVS 100
LPRSEKLRSL VLAGIPHGMR PQLWMRLSGA LQKKRNSELS YREIVKNSSN 150
DETIAAKQIE KDLLRTMPSN ACFASMGSIG VPRLRRVLRA LAWLYPEIGY 200
CQGTGMVAAC LLLFLEEEDA FWMMSAIIED LLPASYFSTT LLGVQTDQRV 250
LRHLIVQYLP RLDKLLQEHD IELSLITLHW FLTAFASVVD IKLLLRIWDL 300
FFYEGSRVLF QLTLGMLHLK EEELIQSENS ASIFNTLSDI PSQMEDAELL 350
LGVAMRLAGS LTDVAVETQR RKHLAYLIAD QGQLLGAGTL TNLSQVVRRR 400
TQRRKSTITA LLFGEDDLEA LKAKNIKQTE LVADLREAIL RVARHFQCTD 450
PKNCSVELTP DYSMESHQRD HENYVACSRS HRRRAKALLD FERHDDDELG 500
FRKNDIITIV SQKDEHCWVG ELNGLRGWFP AKFVEVLDER SKEYSIAGDD 550
SVTEGVTDLV RGTLCPALKA LFEHGLKKPS LLGGACHPWL FIEEAAGREV 600
ERDFASVYSR LVLCKTFRLD EDGKVLTPEE LLYRAVQSVN VTHDAVHAQM 650
DVKLRSLICV GLNEQVLHLW LEVLCSSLPT VEKWYQPWSF LRSPGWVQIK 700
CELRVLCCFA FSLSQDWELP AKREAQQPLK EGVRDMLVKH HLFSWDVDG 749
Length:749
Mass (Da):85,354
Last modified:December 1, 2001 - v1
Checksum:i3DA4F7961EF79056
GO
Isoform 22 Publications (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.

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. 2 Publications
VSP_052561

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_056520.2. NM_015705.4. [Q96HU1-1]
UniGeneiHs.474914.

Genome annotation databases

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

Polymorphism databases

DMDMi74760858.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14002.1. [Q96HU1-1 ]
PIRi T46252.
RefSeqi NP_056520.2. NM_015705.4. [Q96HU1-1 ]
UniGenei Hs.474914.

3D structure databases

ProteinModelPortali Q96HU1.
SMRi Q96HU1. Positions 73-358, 478-551.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118164. 10 interactions.
IntActi Q96HU1. 1 interaction.
STRINGi 9606.ENSP00000248929.

PTM databases

PhosphoSitei Q96HU1.

Polymorphism databases

DMDMi 74760858.

Proteomic databases

MaxQBi Q96HU1.
PaxDbi Q96HU1.
PRIDEi Q96HU1.

Protocols and materials databases

DNASUi 27352.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000248929 ; ENSP00000248929 ; ENSG00000100359 . [Q96HU1-1 ]
GeneIDi 27352.
KEGGi hsa:27352.
UCSCi uc003ayu.1. human. [Q96HU1-1 ]

Organism-specific databases

CTDi 27352.
GeneCardsi GC22P040766.
HGNCi HGNC:25228. SGSM3.
HPAi HPA048980.
MIMi 610440. gene.
neXtProti NX_Q96HU1.
PharmGKBi PA162403194.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5210.
HOGENOMi HOG000007875.
HOVERGENi HBG108484.
InParanoidi Q96HU1.
OMAi HWFLTSF.
OrthoDBi EOG70KGP2.
PhylomeDBi Q96HU1.
TreeFami TF317336.

Miscellaneous databases

ChiTaRSi SGSM3. human.
GenomeRNAii 27352.
NextBioi 50459.
PROi Q96HU1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96HU1.
Bgeei Q96HU1.
CleanExi HS_SGSM3.
Genevestigatori Q96HU1.

Family and domain databases

InterProi IPR000195. Rab-GTPase-TBC_dom.
IPR004012. Run.
IPR001452. SH3_domain.
[Graphical view ]
Pfami PF00566. RabGAP-TBC. 1 hit.
PF02759. RUN. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view ]
SMARTi SM00593. RUN. 1 hit.
SM00326. SH3. 1 hit.
SM00164. TBC. 1 hit.
[Graphical view ]
SUPFAMi SSF47923. SSF47923. 2 hits.
SSF50044. SSF50044. 1 hit.
PROSITEi PS50826. RUN. 1 hit.
PS50002. SH3. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: 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. 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: Rhabdomyosarcoma.
  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 9, 2014
This is version 100 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

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