Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 151 (16 Oct 2019)
Sequence version 1 (01 Mar 2001)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Rab3 GTPase-activating protein non-catalytic subunit

Gene

RAB3GAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regulatory 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. Rab3 GTPase-activating complex 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.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Rab3 GTPase-activating protein non-catalytic subunit
Alternative name(s):
RGAP-iso
Rab3 GTPase-activating protein 150 kDa subunit
Rab3-GAP p150
Short name:
Rab3-GAP150
Rab3-GAP regulatory subunit
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAB3GAP2
Synonyms:KIAA0839
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17168 RAB3GAP2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609275 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H2M9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Martsolf syndrome (MARTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0298811052G → C in MARTS; may cause exon skipping. 1 PublicationCorresponds to variant dbSNP:rs121434310EnsemblClinVar.1
Warburg micro syndrome 2 (WARBM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066675167 – 169Missing in WARBM2. 1 Publication3

Keywords - Diseasei

Cataract, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
25782

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RAB3GAP2

MalaCards human disease database

More...
MalaCardsi
RAB3GAP2
MIMi212720 phenotype
614225 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000118873

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
401830 Autosomal recessive spastic paraplegia type 69
1387 Cataract-intellectual disability-hypogonadism syndrome
2510 Micro syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671105

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H2M9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RAB3GAP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62511132

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001916621 – 1393Rab3 GTPase-activating protein non-catalytic subunitAdd BLAST1393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei39PhosphoserineBy similarity1
Modified residuei450PhosphoserineCombined sources1
Modified residuei901PhosphothreonineCombined sources1
Modified residuei916PhosphoserineCombined sources1
Modified residuei978PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H2M9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H2M9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H2M9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H2M9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H2M9

PeptideAtlas

More...
PeptideAtlasi
Q9H2M9

PRoteomics IDEntifications database

More...
PRIDEi
Q9H2M9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80569 [Q9H2M9-1]
80570 [Q9H2M9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H2M9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H2M9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9H2M9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000118873 Expressed in 245 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H2M9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H2M9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026273
HPA027299

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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).

Interacts with LMAN1 (PubMed:22337587).

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117317, 25 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H2M9, 9 interactors

Molecular INTeraction database

More...
MINTi
Q9H2M9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000351832

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Rab3-GAP regulatory subunit family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2727 Eukaryota
ENOG410XTJ2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005794

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000290717

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H2M9

KEGG Orthology (KO)

More...
KOi
K19937

Identification of Orthologs from Complete Genome Data

More...
OMAi
RTDFLCR

Database of Orthologous Groups

More...
OrthoDBi
236283at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H2M9

TreeFam database of animal gene trees

More...
TreeFami
TF314817

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026059 Rab3-gap_reg
IPR029257 RAB3GAP2_C
IPR032839 RAB3GAP_N

The PANTHER Classification System

More...
PANTHERi
PTHR12472 PTHR12472, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14656 RAB3GAP2_C, 1 hit
PF14655 RAB3GAP2_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H2M9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MACSIVQFCY FQDLQAARDF LFPHLREEIL SGALRRDPSK STDWEDDGWG
60 70 80 90 100
AWEENEPQEP EEEGNTCKTQ KTSWLQDCVL SLSPTNDLMV IAREQKAVFL
110 120 130 140 150
VPKWKYSDKG KEEMQFAVGW SGSLNVEEGE CVTSALCIPL ASQKRSSTGR
160 170 180 190 200
PDWTCIVVGF TSGYVRFYTE NGVLLLAQLL NEDPVLQLKC RTYEIPRHPG
210 220 230 240 250
VTEQNEELSI LYPAAIVTID GFSLFQSLRA CRNQVAKAAA SGNENIQPPP
260 270 280 290 300
LAYKKWGLQD IDTIIDHASV GIMTLSPFDQ MKTASNIGGF NAAIKNSPPA
310 320 330 340 350
MSQYITVGSN PFTGFFYALE GSTQPLLSHV ALAVASKLTS ALFNAASGWL
360 370 380 390 400
GWKSKHEEEA VQKQKPKVEP ATPLAVRFGL PDSRRHGESI CLSPCNTLAA
410 420 430 440 450
VTDDFGRVIL LDVARGIAIR MWKGYRDAQI GWIQTVEDLH ERVPEKADFS
460 470 480 490 500
PFGNSQGPSR VAQFLVIYAP RRGILEVWST QQGPRVGAFN VGKHCRLLYP
510 520 530 540 550
GYKIMGLNNV TSQSWQPQTY QICLVDPVSG SVKTVNVPFH LALSDKKSER
560 570 580 590 600
AKDMHLVKKL AALLKTKSPN LDLVETEIKE LILDIKYPAT KKQALESILA
610 620 630 640 650
SERLPFSCLR NITQTLMDTL KSQELESVDE GLLQFCANKL KLLQLYESVS
660 670 680 690 700
QLNSLDFHLD TPFSDNDLAL LLRLDEKELL KLQALLEKYK QENTRTNVRF
710 720 730 740 750
SDDKDGVLPV KTFLEYLEYE KDVLNIKKIS EEEYVALGSF FFWKCLHGES
760 770 780 790 800
STEDMCHTLE SAGLSPQLLL SLLLSVWLSK EKDILDKPQS ICCLHTMLSL
810 820 830 840 850
LSKMKVAIDE TWDSQSVSPW WQQMRTACIQ SENNGAALLS AHVGHSVAAQ
860 870 880 890 900
ISNNMTEKKF SQTVLGADSE ALTDSWEALS LDTEYWKLLL KQLEDCLILQ
910 920 930 940 950
TLLHSKGNTQ TSKVSSLQAE PLPRLSVKKL LEGGKGGIAD SVAKWIFKQD
960 970 980 990 1000
FSPEVLKLAN EERDAENPDE PKEGVNRSFL EVSEMEMDLG AIPDLLHLAY
1010 1020 1030 1040 1050
EQFPCSLELD VLHAHCCWEY VVQWNKDPEE ARFFVRSIEH LKQIFNAHVQ
1060 1070 1080 1090 1100
NGIALMMWNT FLVKRFSAAT YLMDKVGKSP KDRLCRRDVG MSDTAMTSFL
1110 1120 1130 1140 1150
GSCLDLLQIL MEADVSRDEI QVPVLDTEDA WLSVEGPISI VELALEQKHI
1160 1170 1180 1190 1200
HYPLVEHHSI LCSILYAVMR FSLKTVKPLS LFDSKGKNAF FKDLTSIQLL
1210 1220 1230 1240 1250
PSGEMDPNFI SVRQQFLLKV VSAAVQAQHS ATKVKDPTEE ATPTPFGKDQ
1260 1270 1280 1290 1300
DWPALAVDLA HHLQVSEDVV RRHYVGELYN YGVDHLGEEA ILQVHDKEVL
1310 1320 1330 1340 1350
ASQLLVLTGQ RLAHALLHTQ TKEGMELLAR LPPTLCTWLK AMDPQDLQNT
1360 1370 1380 1390
EVPIATTAKL VNKVIELLPE KHGQYGLALH LIEAVEAISL PSL
Length:1,393
Mass (Da):155,985
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4138F60B5199211E
GO
Isoform 2 (identifier: Q9H2M9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-206: NE → VV
     207-1393: Missing.

Note: No experimental confirmation available.
Show »
Length:206
Mass (Da):23,361
Checksum:iF2E1A380FC809649
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4Y9H7C4Y9_HUMAN
Rab3 GTPase-activating protein non-...
RAB3GAP2
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WDJ2F8WDJ2_HUMAN
Rab3 GTPase-activating protein non-...
RAB3GAP2
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti289G → R in AAC35881 (PubMed:9733780).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066675167 – 169Missing in WARBM2. 1 Publication3
Natural variantiVAR_021588863T → A. Corresponds to variant dbSNP:rs12045447EnsemblClinVar.1
Natural variantiVAR_0298811052G → C in MARTS; may cause exon skipping. 1 PublicationCorresponds to variant dbSNP:rs121434310EnsemblClinVar.1
Natural variantiVAR_0215891092S → T. Corresponds to variant dbSNP:rs2289189EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013311205 – 206NE → VV in isoform 2. 1 Publication2
Alternative sequenceiVSP_013312207 – 1393Missing in isoform 2. 1 PublicationAdd BLAST1187

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF004828 mRNA Translation: AAC35881.1
AF255648 mRNA Translation: AAG44636.1
AB020646 mRNA Translation: BAA74862.2
AK021928 mRNA Translation: BAB13939.1
AK291234 mRNA Translation: BAF83923.1
AC103590 Genomic DNA No translation available.
AL445435 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93304.1
BC146760 mRNA Translation: AAI46761.1
AL117631 mRNA Translation: CAB56022.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31028.1 [Q9H2M9-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17332

NCBI Reference Sequences

More...
RefSeqi
NP_036546.2, NM_012414.3 [Q9H2M9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358951; ENSP00000351832; ENSG00000118873 [Q9H2M9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
25782

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:25782

UCSC genome browser

More...
UCSCi
uc057pnr.1 human [Q9H2M9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF004828 mRNA Translation: AAC35881.1
AF255648 mRNA Translation: AAG44636.1
AB020646 mRNA Translation: BAA74862.2
AK021928 mRNA Translation: BAB13939.1
AK291234 mRNA Translation: BAF83923.1
AC103590 Genomic DNA No translation available.
AL445435 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93304.1
BC146760 mRNA Translation: AAI46761.1
AL117631 mRNA Translation: CAB56022.1
CCDSiCCDS31028.1 [Q9H2M9-1]
PIRiT17332
RefSeqiNP_036546.2, NM_012414.3 [Q9H2M9-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117317, 25 interactors
IntActiQ9H2M9, 9 interactors
MINTiQ9H2M9
STRINGi9606.ENSP00000351832

PTM databases

iPTMnetiQ9H2M9
PhosphoSitePlusiQ9H2M9
SwissPalmiQ9H2M9

Polymorphism and mutation databases

BioMutaiRAB3GAP2
DMDMi62511132

Proteomic databases

EPDiQ9H2M9
jPOSTiQ9H2M9
MassIVEiQ9H2M9
MaxQBiQ9H2M9
PaxDbiQ9H2M9
PeptideAtlasiQ9H2M9
PRIDEiQ9H2M9
ProteomicsDBi80569 [Q9H2M9-1]
80570 [Q9H2M9-2]

Genome annotation databases

EnsembliENST00000358951; ENSP00000351832; ENSG00000118873 [Q9H2M9-1]
GeneIDi25782
KEGGihsa:25782
UCSCiuc057pnr.1 human [Q9H2M9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
25782
DisGeNETi25782

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RAB3GAP2
GeneReviewsiRAB3GAP2
HGNCiHGNC:17168 RAB3GAP2
HPAiHPA026273
HPA027299
MalaCardsiRAB3GAP2
MIMi212720 phenotype
609275 gene
614225 phenotype
neXtProtiNX_Q9H2M9
OpenTargetsiENSG00000118873
Orphaneti401830 Autosomal recessive spastic paraplegia type 69
1387 Cataract-intellectual disability-hypogonadism syndrome
2510 Micro syndrome
PharmGKBiPA142671105

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2727 Eukaryota
ENOG410XTJ2 LUCA
GeneTreeiENSGT00390000005794
HOGENOMiHOG000290717
InParanoidiQ9H2M9
KOiK19937
OMAiRTDFLCR
OrthoDBi236283at2759
PhylomeDBiQ9H2M9
TreeFamiTF314817

Enzyme and pathway databases

ReactomeiR-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RAB3GAP2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RAB3GAP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
25782
PharosiQ9H2M9

Protein Ontology

More...
PROi
PR:Q9H2M9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000118873 Expressed in 245 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ9H2M9 baseline and differential
GenevisibleiQ9H2M9 HS

Family and domain databases

InterProiView protein in InterPro
IPR026059 Rab3-gap_reg
IPR029257 RAB3GAP2_C
IPR032839 RAB3GAP_N
PANTHERiPTHR12472 PTHR12472, 1 hit
PfamiView protein in Pfam
PF14656 RAB3GAP2_C, 1 hit
PF14655 RAB3GAP2_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRBGPR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H2M9
Secondary accession number(s): A6H8V0
, O75872, Q9HAB0, Q9UFJ7, Q9UQ15
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: March 1, 2001
Last modified: October 16, 2019
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again