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Q15042

- RB3GP_HUMAN

UniProt

Q15042 - RB3GP_HUMAN

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Protein

Rab3 GTPase-activating protein catalytic subunit

Gene
RAB3GAP1, KIAA0066, RAB3GAP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Synonyms:KIAA0066, RAB3GAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:17063. RAB3GAP1.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 11Removed By 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.

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ15042.

Family & Domainsi

Sequence similaritiesi

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. VSP_054475Add
BLAST
Alternative sequencei903 – 9031R → RLTESSDE in isoform 2. VSP_054068
Alternative sequencei972 – 98110GAFSSDTSFF → VKIIDGDV in isoform 3. VSP_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.
ENST00000539493; ENSP00000444306; ENSG00000115839.
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 .
ENST00000539493 ; ENSP00000444306 ; ENSG00000115839 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 101 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

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