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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB3IL1 Gene

protein-coding   GIFtS: 49
GCID: GC11M061664

RAB3A interacting protein (rabin3)-like 1

 Explore 4 diseases affiliated with
RAB3IL1 via our new
 Human Malady Compendium 
Biological research products
for RAB3IL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAB3A Interacting Protein (Rabin3)-Like 11 2
Rab3A-Interacting-Like Protein 12 3
Rabin3-Like 12 3
GRAB2
Guanine Nucleotide Exchange Factor For Rab-3A2
Rab-3A-Interacting-Like Protein 13

External Ids:    HGNC: 97801   Entrez Gene: 58662   Ensembl: ENSG000001679947   UniProtKB: Q8TBN03   

Export aliases for RAB3IL1 gene to outside databases

Previous GC identifers: GC11M064178 GC11M063240 GC11M061915 GC11M061440 GC11M061422 GC11M057992


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

Entrez Gene summary for RAB3IL1:
This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds
Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants.
A related pseudogene has been identified on chromosome 7. (provided by RefSeq, Nov 2012)

UniProtKB/Swiss-Prot: R3GEF_HUMAN, Q8TBN0
Function: Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle
exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active
GTP-bound form. May also activate RAB8A and RAB8B




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB3IL1 gene promoter:
         STAT1   AML1a   Pax-5   STAT1beta   NF-E2 p45   AP-2gamma   STAT1alpha   c-Ets-1   NRF-2   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB3IL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB3IL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB3IL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12.2

RAB3IL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB3IL1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061664:  view genomic region     (about GC identifiers)

Start:
61,664,773 bp from pter      End:
61,687,741 bp from pter
Size:
22,969 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: R3GEF_HUMAN, Q8TBN0 (See protein sequence)
Recommended Name: Guanine nucleotide exchange factor for Rab-3A  
Size: 382 amino acids; 42637 Da
Subunit: Interacts with RAB3A and IHPK1 through the coiled-coil domain. This interaction is competitive. IHPK1 kinase
activity is not required for this interaction (By similarity)
Secondary accessions: Q86V32 Q9P1Q8
Alternative splicing: 2 isoforms:  Q8TBN0-1   Q8TBN0-2   

Explore the universe of human proteins at neXtProt for RAB3IL1: NX_Q8TBN0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TBN0

  • RAB3IL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258615.1  NP_037533.2  

    ENSEMBL proteins: 
     ENSP00000378313   ENSP00000301773   ENSP00000432745   ENSP00000435444  

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    Novus Biologicals RAB3IL1 Protein
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    Uscn Proteins for RAB3IL1


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

    RAB3IL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009449 Sec2p

    Graphical View of Domain Structure for InterPro Entry Q8TBN0

    ProtoNet protein and cluster: Q8TBN0

    1 Blocks protein family: IPB011072 Protein kinase PKN/PRK1

    UniProtKB/Swiss-Prot: R3GEF_HUMAN, Q8TBN0
    Similarity: Belongs to the SEC2 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: R3GEF_HUMAN, Q8TBN0
    Function: Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle
    exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active
    GTP-bound form. May also activate RAB8A and RAB8B

         Genatlas biochemistry entry for RAB3IL1:
    RAB3A interacting protein (rabin3)-like 1

    miRNA
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    hsa-miR-588 hsa-miR-4254 hsa-miR-181c hsa-miR-3065-5p hsa-miR-181a hsa-miR-181d hsa-miR-3158-3p hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidRAB3IL1 3' UTR sequence
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19060904
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--
    GO:0019900kinase binding ----


    RAB3IL1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB3IL1

    5/12 Interacting proteins for RAB3IL1 (Q8TBN01, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUDT18Q6ZVK81, 2, 3EBI-743796,EBI-954151 MINT-66392 I2D: score=5 
    RAB3IPQ96QF01, 2, 3EBI-743796,EBI-747844 MINT-67161 I2D: score=4 
    RAB11AP624912, 3MINT-66622 I2D: score=5 
    KCTD2Q146813I2D: score=4 
    KCTD5Q9NXV23I2D: score=4 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--


    RAB3IL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB3IL1

    3 HMDB Compounds for RAB3IL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about RAB3IL1 / R3GEF 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAB3IL1 gene (2 alternative transcripts): 
    NM_001271686.1  NM_013401.3  

    Unigene Cluster for RAB3IL1:

    RAB3A interacting protein (rabin3)-like 1
    Hs.13759  [show with all ESTs]
    Unigene Representative Sequence: NM_013401
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394836(uc001nso.3) ENST00000301773(uc001nsp.3) ENST00000526200
    ENST00000533136 ENST00000530888 ENST00000531922

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB3IL1 (see all 16):
    hsa-miR-588 hsa-miR-4254 hsa-miR-181c hsa-miR-3065-5p hsa-miR-181a hsa-miR-181d hsa-miR-3158-3p hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidRAB3IL1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAB3IL1
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    Additional cDNA sequence: 

    AF084557.1 BC022239.1 BC051820.1 

    7 DOTS entries:

    DT.209035  DT.100776652  DT.455866  DT.100724880  DT.100776645  DT.40317010  DT.92420577 

    9 AceView cDNA sequences:

    NM_013401 BC022239 CR624851 CR615485 AF084557 CD624991 BC051820 BX391757 
    BX383339 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RAB3IL1    About this scheme

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


    ECgene alternative splicing isoforms for RAB3IL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB3IL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGGGCCTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    RAB3IL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RAB3IL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB3IL1

    SOURCE GeneReport for Unigene cluster: Hs.13759
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAB3IL1 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAB3IL11 RAB3A interacting protein (rabin3)-like 1 72.71(n)
    75.92(a)
      423123  NM_001199639.1  NP_001186568.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB3IL16
    --
    76(a)
    1 ↔ 1
    GL343235.1(2170100-2194072)
    zebrafish
    (Danio rerio)
    Actinopterygii wufd02h102 Transcribed sequence with weak similarity to protein more 78.36(n)    57065790 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    34(a)
    1 → many
    Group9.8(151388-153283)
    worm
    (Caenorhabditis elegans)
    Secernentea F54C9.111 Protein F54C9.11 43.26(n)
    34.35(a)
      186226  NM_063416.1  NP_495817.1 


    ENSEMBL Gene Tree for RAB3IL1 (if available)
    TreeFam Gene Tree for RAB3IL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB3IL1 gene
    RAB3IP2  ENSG000002580522  
    1 SIMAP similar gene for RAB3IL1 using alignment to 3 protein entries:     R3GEF_HUMAN (see all proteins):
    RAB3IP

    RAB3IL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RAB3IL1
    PGOHUM00000233175


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/365 NCBI SNPs in RAB3IL1 are shown (see all 365    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1483721471,2
    --61664361(+) GAGCAA/CCAGGC 2 -- ds50010--------
    rs1415290231,2
    --61664500(+) GTGCCA/GTTCTT 2 -- ds50010--------
    rs1475013211,2
    --61664672(+) AGCACA/GAGGGC 2 -- ds50010--------
    rs760954891,2
    C,F,--61664711(+) TTCAGA/TTGCCC 2 -- ds50012Minor allele frequency- T:0.23NA EA 240
    rs1151491891,2
    C,F,--61664756(+) GGGCGC/TGTGGC 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs177649351,2
    C,F,H,--61664757(+) NNNNCG/ATGGCC 2 -- ds500117Minor allele frequency- A:0.03NA NS EA 2358
    rs747807671,2
    C,F,--61664808(+) GATCGC/TGTTAC 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs139661,2
    C,F,A,H,--61664992(+) GTGGGC/TGATCT 2 -- ut3128Minor allele frequency- T:0.37MN NA NS EA WA CSA 2863
    rs22350931,2
    C,F,A,H,--61665122(-) CTTCAC/TAAAGG 2 -- ut31 ese320Minor allele frequency- T:0.36NS EA NA WA CSA 2336
    rs771631761,2
    C,F,--61665142(+) GGAAGG/AGGGAA 2 -- ut311Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for RAB3IL1 (61664773 - 61687741 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAB3IL1: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for RAB3IL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RAB3IL1 for disorders           About GeneDecksing

    4 diseases for RAB3IL1:    About MalaCards
    legg-calve-perthes disease    pseudobulbar palsy    cerebrovascular accident    agnosia


    Export disorders for RAB3IL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAB3IL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RAB3IL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies novel loci as sociated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1 Demirkan A....Schmitz G. (2012)
    2. Genetic loci associated with plasma phospholipid n-3 f atty acids: a meta-analysis of genome-wide association studies from the CHARGE C onsortium. (PubMed id 21829377)1 Lemaitre R.N....Steffen L.M. (2011)
    3. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PubMed id 20937701)2 Yoshimura S.... Barr F.A. (2010)
    4. Small G proteins as key regulators of pancreatic diges tive enzyme secretion. (PubMed id 19088252)1 Williams J.A....Sabbatini M.E. (2009)
    5. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. GRAB: a physiologic guanine nucleotide exchange factor for Rab3A, which interacts with inositol hexakisphosphate kinase. (PubMed id 11516400)1 Luo H.R....Snyder S.H. (2001)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5866 HGNC: 9780 AceView: RAB3IL1 Ensembl:ENSG00000167994 euGenes: HUgn5866
    ECgene: RAB3IL1 H-InvDB: RAB3IL1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for RAB3IL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB3IL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    Patent Information for RAB3IL1 gene:
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