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Q96HU1

- SGSM3_HUMAN

UniProt

Q96HU1 - SGSM3_HUMAN

Protein

Small G protein signaling modulator 3

Gene

SGSM3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

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

    GO - Biological processi

    1. cell cycle arrest Source: UniProtKB-KW
    2. positive regulation of protein catabolic process Source: Ensembl
    3. Rap protein signal transduction Source: UniProtKB
    4. regulation of Rab protein signal transduction Source: UniProtKB

    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: 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

    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 3PRO_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.
    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.
    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 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:
    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

    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: October 1, 2014
    This is version 101 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