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RAB3GAP1 Gene

protein-coding   GIFtS: 51

GC02P135526
RAB3 GTPase activating protein subunit 1 (catalytic)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DKFZp434A012 2
KIAA0066 1, 2, 3
P130 2, 5
RAB3GAP 1, 2, 3
RAB3GAP130 1, 2
Rab3-GAP 3
WARBM1 1, 2, 5
Descriptions
RAB3 GTPase activating protein subunit 1 (catalytic) 2
RAB3 GTPase-activating protein 2
RAB3 GTPase-activating protein 130 kDa subunit 3
Rab3-GAP p130 3
External Ids
HGNC: 170631
Entrez Gene: 229302
UniProtKB: Q150423
Ensembl: ENSG000001158397
Search outside databases for aliases for RAB3GAP1 gene

Previous GC identifers: GC02P135645 GC02U900802

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for RAB3GAP1:
Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis
of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a
heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (MIM
609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et
al., 2005 [PubMed 15696165]).[supplied by OMIM]

UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042
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

Gene Wiki entry for RAB3GAP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the RAB3GAP1 gene  

Entrez Gene cytogenetic band: 2q21.3   Ensembl cytogenetic band:  2q21.3   HGNC cytogenetic band: 2q21.3

RAB3GAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P135526:     (about GC identifiers)

Start:
135,526,323 bp from pter
End:
135,644,048 bp from pter
Size:
117,726 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_022135.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042 (See protein sequence)
Recommended Name: Rab3 GTPase-activating protein catalytic subunit  
Size: 981 amino acids; 110524 Da
Subunit: 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
Secondary accessions: Q659F5 Q8TBB4
Alternative splicing: 2 isoforms:  Q15042-1   Q15042-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_036365.1  

    ENSEMBL proteins: 
    ENSP00000264158 ENSP00000364996 


    Human Recombinant Proteins 
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    Recombinant Proteins from Abcam (RAB3GAP1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction IDA9852129
    GO:0005737 cytoplasm IEA--
    About this table

    Antibodies for RAB3GAP1: 
    Invitrogen Antibodies for RAB3GAP1
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
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    Antibodies from Abcam (RAB3GAP1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for RAB3GAP1

    Assays for RAB3GAP1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q15042

    UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042
    Similarity: Belongs to the Rab3-GAP catalytic subunit family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAB3GAP1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012233

                  Applied Biosystems Silencer® siRNAs for RAB3GAP1

                  Sigma-Aldrich siRNA for RAB3GAP1  
                         Sigma-Aldrich shRNA for RAB3GAP1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_012233
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_012233
                                     untagged cDNA clone in CMV expression vector: NM_012233 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_012233

    UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042
    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
    Biophysicochemical properties: Kinetic parameters: KM=75 uM for GTP-loaded RAB3A;

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rab3gap1):

    nervous system

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096 GTPase activator activity IEA--
    GO:0005097 Rab GTPase activator activity IDA9030515 10859313
    GO:0017137 Rab GTPase binding IPI10859313
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  RAB3GAP1 


    5/8 Interacting proteins for RAB3GAP1 (ENSP000002641583) via UniProtKB, MINT, and/or STRING (see all 8 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB3GAP2ENSP000003518323STRING (score=.983)
    RAB3AENSP000002222563STRING (score=.879)
    DMXL2ENSP000002510763STRING (score=.85)
    RAB3BENSP000003607183STRING (score=.75)
    RAB3DENSP000002221203STRING (score=.75)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043087 regulation of GTPase activity IDA10859313
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for RAB3GAP1
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for RAB3GAP1
    2 Novoseek chemical compound relationships for RAB3GAP1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 72.31 7 12786944 (1), 9852129 (1), 16473606 (1), 11809763 (1)
    gtp 65.95 8 9224661 (1), 12786944 (1), 9852129 (1), 16473606 (1) (see all 5)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAB3GAP1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012233

                  Sigma-Aldrich siRNA for RAB3GAP1  
                         Sigma-Aldrich shRNA for RAB3GAP1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_012233  

    REFSEQ mRNAs for RAB3GAP1 gene: 

    NM_012233.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_012233  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_012233
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_012233
                                     untagged cDNA clone in CMV expression vector: NM_012233 

    Additional cDNA sequence: 

    AB449877.1 AK022494.1 AK056058.1 AK309118.1 AL096752.1 BC020303.1 BC022977.1 BC030992.2 
    BC036732.1 BC071602.1 BC146809.1 D31886.1 

    19 DOTS entries:

    DT.318550  DT.92042000  DT.100765793  DT.100692986  DT.120977449  DT.92432825  DT.318552  DT.92432826 
    DT.97826377  DT.91863266  DT.120977404  DT.120977412  DT.95276239  DT.120977398  DT.91690664  DT.95276242 
    DT.120977492  DT.91751690  DT.91986408 

    highest scoring ESTs for RAB3GAP1:

    AL096752 D31886 AA126453 AA135529 AA216018 AA363190 AA370959 AA385533 AA429718 AA442748 

    Unigene Cluster for RAB3GAP1:

    RAB3 GTPase activating protein subunit 1 (catalytic)
    Hs.306327  [show with all ESTs]
    Unigene Representative Sequence: BC071602


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RAB3GAP1 (see all 8 )

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
    SP1:                                                                                                                                                      
    SP2:                    -                                                                                                                                 
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                        -                                             

    About this scheme

    ECgene alternative splicing isoforms for RAB3GAP1

    2 Ensembl transcripts including schematic representations:
    ENST00000264158  ENST00000375836  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    RAB3GAP1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for RAB3GAP1

    1 / 2 / 3

    11 probe-sets matching RAB3GAP1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33417_at2, 3 U95-A 1 1.00 1.00 0.68 0.87 D31886 0.80 0.88 0.84 1

    33418_at2, 3 U95-A 1 0.56 1.00 0.64 1.04 AL096752 0.80 1.00 0.91 1
    82678_at*2, 3 U95-D 1 0.94 1.00 0.86 1.09 R99109 0.20 1.00 0.72 1

    212932_at2, 3 U133-A 1 1.00 1.00 -- -- AK022494 0.60 0.83 0.73 1

    213531_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI040009 0.40 1.00 0.76 1

    213530_at2, 3 U133-A 1 1.00 1.00 -- -- AI040009 0.40 1.00 0.76 1

    239527_at*2, 3 U133-B 2 0.73 0.94 -- -- BF103605 0.20 1.00 0.72 1

    212932_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    213531_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    213530_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    239527_at*2 U133Plus2 2 0.73 0.94 -- -- -- -- -- -- --
    GeneDecks  RAB3GAP1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GAGCTCAAGA

    SOURCE GeneReport for Unigene cluster: Hs.306327

    UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042
    Tissue specificity: Ubiquitous

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for RAB3GAP1 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RAB3GAP11   -- RAB3 GTPase activating protein subunit 1 (catalytic) 92.81(n)
    94.99(a)
    476127  XM_851254.1  XP_856347.1 
    chimpanzee
    (Pan troglodytes)
    RAB3GAP11   -- RAB3 GTPase activating protein subunit 1 (catalytic) 99.63(n)
    99.69(a)
    470548  XM_001153005.1  XP_001153005.1 
    cow
    (Bos taurus)
    RAB3GAP11   -- RAB3 GTPase activating protein subunit 1 (catalytic) 91.98(n)
    95.21(a)
    535393  XM_615469.3  XP_615469.3 
    mouse
    (Mus musculus)
    Rab3gap11, 5 15
    RAB3 GTPase activating protein subunit 11, 5 87.01(n)1
    92.95(a)1
    2264071  NM_178690.31  NP_848805.11 
     AI8355775  AK0356035  (see all 24)
    chicken
    (Gallus gallus)
    RAB3GAP11   -- RAB3 GTPase activating protein subunit 1 (catalytic) 80.16(n)
    87.19(a)
    424290  XM_422135.2  XP_422135.2 
    About this table        Species with no ortholog for RAB3GAP1

    ENSEMBL Gene Tree for RAB3GAP1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/495 NCBI SNPs in RAB3GAP1 are shown (see all 495 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 92)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs104456861,2
    C,F,H135609842(+) AGGAAA/GTGGAC 1 N/S mis18Minor allele frequency- G:0.21EU EA WA 838
    --
    rs74243561,2
    A,C135525711(+) gatcgC/Tgccac 1 -- ng510--------
    rs168313951,2
    F,H135643898(+) TCTTAT/CTTTTA 1 -- ut317Minor allele frequency- C:0.06NA EU EA WA 562
    --
    rs101701251,2
    C,F135642956(+) AGCATC/GGGAAA 1 -- ut31 ese33Minor allele frequency- G:0.01NA 142
    rs133908501,2
    H135525827(+) TCCCAG/AAAACC 1 -- ng51 tfbs34Minor allele frequency- A:0.00EU EA WA 418
    rs75957251,2
    A,F,H135624477(+) ACATCG/AGCAGA 1 S/S syn1 ese34Minor allele frequency- A:0.02EU EA WA 418
    rs172617721,2
    C,F,H135627892(+) CTCTTC/TGATGA 1 F/F syn19Minor allele frequency- T:0.28NA EU EA WA 744
    rs18698291,2
    A,C,F,H,O135594032(-) ATTAAC/TGAATC 1 -- int121Minor allele frequency- N:0.01NS EU EA WA NA 1520
    --
    rs92874391,2
    A,C,F,H135586231(+) GACCTC/TAAACT 1 -- int112Minor allele frequency- T:0.08EU EA WA NS NA 656
    rs75945091,2
    A,C,F,H135629447(+) aatatG/Tcaatt 1 -- int14Minor allele frequency- T:0.33EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for RAB3GAP1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602536   disorders: 600118  

    UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042

  • Defects in RAB3GAP1 are the cause of Warburg micro syndrome 1 (WARBM1) [MIM:600118].
    WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of
    the eye and central nervous system and by microgenitalia
  • Human Gene Mutation Database: RAB3GAP1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/27 PubMed articles for RAB3GAP1 gene (see all 27 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 22930 HGNC: 17063 Ensembl:ENSG00000115839 euGenes: HUgn22930 ECgene: RAB3GAP1
    H-InvDB: RAB3GAP1
    (According to HUGE)
    About This Section

    HUGE: KIAA0066
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=RAB3GAP1
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for RAB3GAP1:
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      Free SNP selection tool



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    Gene Index:   3   5   A   B   C   D   E   F   G   H   I   J   K   L   M   N   O   P   Q   R   S   T   U   V   W   X   Y   Z

    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    RAB3GAP1 Gene at Home site.
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