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Q15042 (RB3GP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:RAB3GAP1
Synonyms:KIAA0066, RAB3GAP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length981 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5 Ref.7

Subunit structure

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

Subcellular location

Cytoplasm. Note: In neurons, it is enriched in the synaptic soluble fraction. Ref.6

Tissue specificity

Ubiquitous. Ref.5

Involvement in disease

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. Ref.8

Sequence similarities

Belongs to the Rab3-GAP catalytic subunit family.

Biophysicochemical properties

Kinetic parameters:

KM=75 µM for GTP-loaded RAB3A Ref.7

Sequence caution

The sequence BC071602 differs from that shown. Reason: Frameshift at position 211.

The sequence CAH56411.1 differs from that shown. Reason: Probable cloning artifact.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15042-1)

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 (identifier: Q15042-3)

The sequence of this isoform differs from the canonical sequence as follows:
     903-903: R → RLTESSDE
Note: No experimental confirmation available.
Isoform 3 (identifier: Q15042-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 981980Rab3 GTPase-activating protein catalytic subunit
PRO_0000191655

Natural variations

Alternative sequence1 – 5050MAADS…KPLEK → MFSLIS in isoform 3.
VSP_054475
Alternative sequence9031R → RLTESSDE in isoform 2.
VSP_054068
Alternative sequence972 – 98110GAFSSDTSFF → VKIIDGDV in isoform 3.
VSP_054476
Natural variant5981N → S. Ref.3
Corresponds to variant rs10445686 [ dbSNP | Ensembl ].
VAR_051716

Experimental info

Mutagenesis6191R → A: No effect. Ref.7
Mutagenesis7001R → A: No effect. Ref.7
Mutagenesis7281R → A: Loss of function. Ref.7
Mutagenesis7531R → A: No effect. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 0673611C5C49641C

FASTA981110,524
        10         20         30         40         50         60 
MAADSEPESE VFEITDFTTA SEWERFISKV EEVLNDWKLI GNSLGKPLEK GIFTSGTWEE 

        70         80         90        100        110        120 
KSDEISFADF KFSVTHHYLV QESTDKEGKD ELLEDVVPQS MQDLLGMNND FPPRAHCLVR 

       130        140        150        160        170        180 
WYGLREFVVI APAAHSDAVL SESKCNLLLS SVSIALGNTG CQVPLFVQIH HKWRRMYVGE 

       190        200        210        220        230        240 
CQGPGVRTDF EMVHLRKVPN QYTHLSGLLD IFKSKIGCPL TPLPPVSIAI RFTYVLQDWQ 

       250        260        270        280        290        300 
QYFWPQQPPD IDALVGGEVG GLEFGKLPFG ACEDPISELH LATTWPHLTE GIIVDNDVYS 

       310        320        330        340        350        360 
DLDPIQAPHW SVRVRKAENP QCLLGDFVTE FFKICRRKES TDEILGRSAF EEEGKETADI 

       370        380        390        400        410        420 
THALSKLTEP ASVPIHKLSV SNMVHTAKKK IRKHRGVEES PLNNDVLNTI LLFLFPDAVS 

       430        440        450        460        470        480 
EKPLDGTTST DNNNPPSESE DYNLYNQFKS APSDSLTYKL ALCLCMINFY HGGLKGVAHL 

       490        500        510        520        530        540 
WQEFVLEMRF RWENNFLIPG LASGPPDLRC CLLHQKLQML NCCIERKKAR DEGKKTSASD 

       550        560        570        580        590        600 
VTNIYPGDAG KAGDQLVPDN LKETDKEKGE VGKSWDSWSD SEEEFFECLS DTEELKGNGQ 

       610        620        630        640        650        660 
ESGKKGGPKE MANLRPEGRL YQHGKLTLLH NGEPLYIPVT QEPAPMTEDL LEEQSEVLAK 

       670        680        690        700        710        720 
LGTSAEGAHL RARMQSACLL SDMESFKAAN PGCSLEDFVR WYSPRDYIEE EVIDEKGNVV 

       730        740        750        760        770        780 
LKGELSARMK IPSNMWVEAW ETAKPIPARR QRRLFDDTRE AEKVLHYLAI QKPADLARHL 

       790        800        810        820        830        840 
LPCVIHAAVL KVKEEESLEN ISSVKKIIKQ IISHSSKVLH FPNPEDKKLE EIIHQITNVE 

       850        860        870        880        890        900 
ALIARARSLK AKFGTEKCEQ EEEKEDLERF VSCLLEQPEV LVTGAGRGHA GRIIHKLFVN 

       910        920        930        940        950        960 
AQRAAAMTPP EEELKRMGSP EERRQNSVSD FPPPAGREFI LRTTVPRPAP YSKALPQRMY 

       970        980 
SVLTKEDFRL AGAFSSDTSF F 

« Hide

Isoform 2 [UniParc].

Checksum: 53B04747CCD4B2D8
Show »

FASTA988111,285
Isoform 3 [UniParc].

Checksum: 15466F1985DFFB72
Show »

FASTA935105,296

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"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 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]"Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome."
Aligianis I.A., Johnson C.A., Gissen P., Chen D., Hampshire D., Hoffmann K., Maina E.N., Morgan N.V., Tee L., Morton J., Ainsworth J.R., Horn D., Rosser E., Cole T.R.P., Stolte-Dijkstra I., Fieggen K., Clayton-Smith J., Megarbane A. expand/collapse author list , Shield J.P., Newbury-Ecob R., Dobyns W.B., Graham J.M., Kjaer K.W., Warburg M., Bond J., Trembath R.C., Harris L.W., Takai Y., Mundlos S., Tannahill D., Woods C.G., Maher E.R.
Nat. Genet. 37:221-223(2005) [PubMed] [Europe PMC] [Abstract]
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]"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.
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS33294.1. [Q15042-1]
RefSeqNP_001165906.1. NM_001172435.1. [Q15042-3]
NP_036365.1. NM_012233.2. [Q15042-1]
UniGeneHs.306327.

3D structure databases

ProteinModelPortalQ15042.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116590. 18 interactions.
IntActQ15042. 2 interactions.
STRING9606.ENSP00000264158.

PTM databases

PhosphoSiteQ15042.

Polymorphism databases

DMDM62511099.

Proteomic databases

MaxQBQ15042.
PaxDbQ15042.
PRIDEQ15042.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264158; ENSP00000264158; ENSG00000115839. [Q15042-1]
ENST00000442034; ENSP00000411418; ENSG00000115839.
ENST00000539493; ENSP00000444306; ENSG00000115839.
GeneID22930.
KEGGhsa:22930.
UCSCuc002tuj.3. human. [Q15042-1]

Organism-specific databases

CTD22930.
GeneCardsGC02P135809.
HGNCHGNC:17063. RAB3GAP1.
HPAHPA034494.
HPA034495.
MIM600118. phenotype.
602536. gene.
neXtProtNX_Q15042.
Orphanet1387. Cataract - intellectual disability - hypogonadism.
2510. Micro syndrome.
PharmGKBPA134969639.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307494.
HOGENOMHOG000253924.
HOVERGENHBG079116.
InParanoidQ15042.
KOK18270.
OMAPIQAPHW.
PhylomeDBQ15042.
TreeFamTF314500.

Gene expression databases

ArrayExpressQ15042.
BgeeQ15042.
CleanExHS_RAB3GAP1.
GenevestigatorQ15042.

Family and domain databases

InterProIPR026147. Rab3-GAP_cat_su.
[Graphical view]
PANTHERPTHR21422. PTHR21422. 1 hit.
PfamPF13890. Rab3-GTPase_cat. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRAB3GAP1. human.
GeneWikiRAB3GAP1.
GenomeRNAi22930.
NextBio35462401.
PROQ15042.
SOURCESearch...

Entry information

Entry nameRB3GP_HUMAN
AccessionPrimary (citable) accession number: Q15042
Secondary accession number(s): A6H8Z3 expand/collapse secondary AC list , C9J837, Q659F5, Q8TBB4
Entry history
Integrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 100 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM