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Q15042

- RB3GP_HUMAN

UniProt

Q15042 - RB3GP_HUMAN

Protein

Rab3 GTPase-activating protein catalytic subunit

Gene

RAB3GAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.2 Publications

    Kineticsi

    1. KM=75 µM for GTP-loaded RAB3A1 Publication

    GO - Molecular functioni

    1. Rab GTPase activator activity Source: UniProtKB
    2. Rab GTPase binding Source: UniProtKB

    GO - Biological processi

    1. brain development Source: BHF-UCL
    2. camera-type eye development Source: BHF-UCL
    3. face morphogenesis Source: BHF-UCL
    4. hypothalamus development Source: BHF-UCL
    5. lipid particle organization Source: MGI
    6. positive regulation of Rab GTPase activity Source: GOC
    7. regulation of GTPase activity Source: UniProtKB

    Keywords - Molecular functioni

    GTPase activation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rab3 GTPase-activating protein catalytic subunit
    Alternative name(s):
    RAB3 GTPase-activating protein 130 kDa subunit
    Rab3-GAP p130
    Short name:
    Rab3-GAP
    Gene namesi
    Name:RAB3GAP1
    Synonyms:KIAA0066, RAB3GAP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:17063. RAB3GAP1.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: In neurons, it is enriched in the synaptic soluble fraction.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Warburg micro syndrome 1 (WARBM1) [MIM:600118]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi619 – 6191R → A: No effect. 1 Publication
    Mutagenesisi700 – 7001R → A: No effect. 1 Publication
    Mutagenesisi728 – 7281R → A: Loss of function. 1 Publication
    Mutagenesisi753 – 7531R → A: No effect. 1 Publication

    Organism-specific databases

    MIMi600118. phenotype.
    Orphaneti1387. Cataract - intellectual disability - hypogonadism.
    2510. Micro syndrome.
    PharmGKBiPA134969639.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 981980Rab3 GTPase-activating protein catalytic subunitPRO_0000191655Add
    BLAST

    Proteomic databases

    MaxQBiQ15042.
    PaxDbiQ15042.
    PRIDEiQ15042.

    PTM databases

    PhosphoSiteiQ15042.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    ArrayExpressiQ15042.
    BgeeiQ15042.
    CleanExiHS_RAB3GAP1.
    GenevestigatoriQ15042.

    Organism-specific databases

    HPAiHPA034494.
    HPA034495.

    Interactioni

    Subunit structurei

    The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi116590. 18 interactions.
    IntActiQ15042. 2 interactions.
    STRINGi9606.ENSP00000264158.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15042.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Rab3-GAP catalytic subunit family.Curated

    Phylogenomic databases

    eggNOGiNOG307494.
    HOGENOMiHOG000253924.
    HOVERGENiHBG079116.
    InParanoidiQ15042.
    KOiK18270.
    OMAiPIQAPHW.
    PhylomeDBiQ15042.
    TreeFamiTF314500.

    Family and domain databases

    InterProiIPR026147. Rab3-GAP_cat_su.
    [Graphical view]
    PANTHERiPTHR21422. PTHR21422. 1 hit.
    PfamiPF13890. Rab3-GTPase_cat. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q15042-1) [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

    MAADSEPESE VFEITDFTTA SEWERFISKV EEVLNDWKLI GNSLGKPLEK    50
    GIFTSGTWEE KSDEISFADF KFSVTHHYLV QESTDKEGKD ELLEDVVPQS 100
    MQDLLGMNND FPPRAHCLVR WYGLREFVVI APAAHSDAVL SESKCNLLLS 150
    SVSIALGNTG CQVPLFVQIH HKWRRMYVGE CQGPGVRTDF EMVHLRKVPN 200
    QYTHLSGLLD IFKSKIGCPL TPLPPVSIAI RFTYVLQDWQ QYFWPQQPPD 250
    IDALVGGEVG GLEFGKLPFG ACEDPISELH LATTWPHLTE GIIVDNDVYS 300
    DLDPIQAPHW SVRVRKAENP QCLLGDFVTE FFKICRRKES TDEILGRSAF 350
    EEEGKETADI THALSKLTEP ASVPIHKLSV SNMVHTAKKK IRKHRGVEES 400
    PLNNDVLNTI LLFLFPDAVS EKPLDGTTST DNNNPPSESE DYNLYNQFKS 450
    APSDSLTYKL ALCLCMINFY HGGLKGVAHL WQEFVLEMRF RWENNFLIPG 500
    LASGPPDLRC CLLHQKLQML NCCIERKKAR DEGKKTSASD VTNIYPGDAG 550
    KAGDQLVPDN LKETDKEKGE VGKSWDSWSD SEEEFFECLS DTEELKGNGQ 600
    ESGKKGGPKE MANLRPEGRL YQHGKLTLLH NGEPLYIPVT QEPAPMTEDL 650
    LEEQSEVLAK LGTSAEGAHL RARMQSACLL SDMESFKAAN PGCSLEDFVR 700
    WYSPRDYIEE EVIDEKGNVV LKGELSARMK IPSNMWVEAW ETAKPIPARR 750
    QRRLFDDTRE AEKVLHYLAI QKPADLARHL LPCVIHAAVL KVKEEESLEN 800
    ISSVKKIIKQ IISHSSKVLH FPNPEDKKLE EIIHQITNVE ALIARARSLK 850
    AKFGTEKCEQ EEEKEDLERF VSCLLEQPEV LVTGAGRGHA GRIIHKLFVN 900
    AQRAAAMTPP EEELKRMGSP EERRQNSVSD FPPPAGREFI LRTTVPRPAP 950
    YSKALPQRMY SVLTKEDFRL AGAFSSDTSF F 981
    Length:981
    Mass (Da):110,524
    Last modified:January 23, 2007 - v3
    Checksum:i0673611C5C49641C
    GO
    Isoform 2 (identifier: Q15042-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         903-903: R → RLTESSDE

    Note: No experimental confirmation available.

    Show »
    Length:988
    Mass (Da):111,285
    Checksum:i53B04747CCD4B2D8
    GO
    Isoform 3 (identifier: Q15042-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEK → MFSLIS
         972-981: GAFSSDTSFF → VKIIDGDV

    Note: No experimental confirmation available.

    Show »
    Length:935
    Mass (Da):105,296
    Checksum:i15466F1985DFFB72
    GO

    Sequence cautioni

    The sequence CAH56411.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence BC071602 differs from that shown. Reason: Frameshift at position 211.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti598 – 5981N → S.1 Publication
    Corresponds to variant rs10445686 [ dbSNP | Ensembl ].
    VAR_051716

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5050MAADS…KPLEK → MFSLIS in isoform 3. 1 PublicationVSP_054475Add
    BLAST
    Alternative sequencei903 – 9031R → RLTESSDE in isoform 2. 1 PublicationVSP_054068
    Alternative sequencei972 – 98110GAFSSDTSFF → VKIIDGDV in isoform 3. 1 PublicationVSP_054476

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D31886 mRNA. Translation: BAA06684.1.
    AC017031 Genomic DNA. No translation available.
    AC020602 Genomic DNA. No translation available.
    BC022977 mRNA. Translation: AAH22977.1.
    BC071602 mRNA. No translation available.
    BC146809 mRNA. Translation: AAI46810.1.
    AL096752 mRNA. Translation: CAH56411.1. Sequence problems.
    CCDSiCCDS33294.1. [Q15042-1]
    CCDS54402.1. [Q15042-3]
    RefSeqiNP_001165906.1. NM_001172435.1. [Q15042-3]
    NP_036365.1. NM_012233.2. [Q15042-1]
    UniGeneiHs.306327.

    Genome annotation databases

    EnsembliENST00000264158; ENSP00000264158; ENSG00000115839. [Q15042-1]
    ENST00000442034; ENSP00000411418; ENSG00000115839. [Q15042-3]
    ENST00000539493; ENSP00000444306; ENSG00000115839. [Q15042-4]
    GeneIDi22930.
    KEGGihsa:22930.
    UCSCiuc002tuj.3. human. [Q15042-1]

    Polymorphism databases

    DMDMi62511099.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D31886 mRNA. Translation: BAA06684.1 .
    AC017031 Genomic DNA. No translation available.
    AC020602 Genomic DNA. No translation available.
    BC022977 mRNA. Translation: AAH22977.1 .
    BC071602 mRNA. No translation available.
    BC146809 mRNA. Translation: AAI46810.1 .
    AL096752 mRNA. Translation: CAH56411.1 . Sequence problems.
    CCDSi CCDS33294.1. [Q15042-1 ]
    CCDS54402.1. [Q15042-3 ]
    RefSeqi NP_001165906.1. NM_001172435.1. [Q15042-3 ]
    NP_036365.1. NM_012233.2. [Q15042-1 ]
    UniGenei Hs.306327.

    3D structure databases

    ProteinModelPortali Q15042.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116590. 18 interactions.
    IntActi Q15042. 2 interactions.
    STRINGi 9606.ENSP00000264158.

    PTM databases

    PhosphoSitei Q15042.

    Polymorphism databases

    DMDMi 62511099.

    Proteomic databases

    MaxQBi Q15042.
    PaxDbi Q15042.
    PRIDEi Q15042.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264158 ; ENSP00000264158 ; ENSG00000115839 . [Q15042-1 ]
    ENST00000442034 ; ENSP00000411418 ; ENSG00000115839 . [Q15042-3 ]
    ENST00000539493 ; ENSP00000444306 ; ENSG00000115839 . [Q15042-4 ]
    GeneIDi 22930.
    KEGGi hsa:22930.
    UCSCi uc002tuj.3. human. [Q15042-1 ]

    Organism-specific databases

    CTDi 22930.
    GeneCardsi GC02P135809.
    HGNCi HGNC:17063. RAB3GAP1.
    HPAi HPA034494.
    HPA034495.
    MIMi 600118. phenotype.
    602536. gene.
    neXtProti NX_Q15042.
    Orphaneti 1387. Cataract - intellectual disability - hypogonadism.
    2510. Micro syndrome.
    PharmGKBi PA134969639.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG307494.
    HOGENOMi HOG000253924.
    HOVERGENi HBG079116.
    InParanoidi Q15042.
    KOi K18270.
    OMAi PIQAPHW.
    PhylomeDBi Q15042.
    TreeFami TF314500.

    Miscellaneous databases

    ChiTaRSi RAB3GAP1. human.
    GeneWikii RAB3GAP1.
    GenomeRNAii 22930.
    NextBioi 35462401.
    PROi Q15042.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15042.
    Bgeei Q15042.
    CleanExi HS_RAB3GAP1.
    Genevestigatori Q15042.

    Family and domain databases

    InterProi IPR026147. Rab3-GAP_cat_su.
    [Graphical view ]
    PANTHERi PTHR21422. PTHR21422. 1 hit.
    Pfami PF13890. Rab3-GTPase_cat. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1."
      Nomura N., Nagase T., Miyajima N., Sazuka T., Tanaka A., Sato S., Seki N., Kawarabayasi Y., Ishikawa K., Tabata S.
      DNA Res. 1:223-229(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Bone marrow.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 439-981 (ISOFORM 1), VARIANT SER-598.
      Tissue: Placenta.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 764-981.
      Tissue: Testis.
    5. "Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins."
      Fukui K., Sasaki T., Imazumi K., Matsuura Y., Nakanishi H., Takai Y.
      J. Biol. Chem. 272:4655-4658(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    6. "Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis."
      Oishi H., Sasaki T., Nagano F., Ikeda W., Ohya T., Wada M., Ide N., Nakanishi H., Takai Y.
      J. Biol. Chem. 273:34580-34585(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. "Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP."
      Clabecq A., Henry J.-P., Darchen F.
      J. Biol. Chem. 275:31786-31791(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, MUTAGENESIS OF ARG-619; ARG-700; ARG-728 AND ARG-753.
    8. Cited for: INVOLVEMENT IN WARBM1.
    9. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRB3GP_HUMAN
    AccessioniPrimary (citable) accession number: Q15042
    Secondary accession number(s): A6H8Z3
    , C9J837, Q659F5, Q8TBB4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 12, 2005
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 102 of the entry and version 3 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 2
      Human chromosome 2: 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