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Aliases for RAB3IL1 Gene

Aliases for RAB3IL1 Gene

  • RAB3A Interacting Protein (Rabin3)-Like 1 2 3
  • Rab3A-Interacting-Like Protein 1 3 4
  • Rabin3-Like 1 3 4
  • Guanine Nucleotide Exchange Factor For Rab-3A 3
  • Guanine Nucleotide Exchange Factor For Rab3A 2
  • Rab-3A-Interacting-Like Protein 1 4
  • GRAB 3

External Ids for RAB3IL1 Gene

Previous GeneCards Identifiers for RAB3IL1 Gene

  • GC11M064178
  • GC11M063240
  • GC11M061915
  • GC11M061440
  • GC11M061422
  • GC11M061664
  • GC11M057992

Summaries for RAB3IL1 Gene

Entrez Gene Summary for RAB3IL1 Gene

  • 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]

GeneCards Summary for RAB3IL1 Gene

RAB3IL1 (RAB3A Interacting Protein (Rabin3)-Like 1) is a Protein Coding gene. Diseases associated with RAB3IL1 include necrotizing fasciitis. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAB3IP.

UniProtKB/Swiss-Prot for RAB3IL1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3IL1 Gene

Genomics for RAB3IL1 Gene

Regulatory Elements for RAB3IL1 Gene

Genomic Location for RAB3IL1 Gene

Start:
61,897,234 bp from pter
End:
61,920,271 bp from pter
Size:
23,038 bases
Orientation:
Minus strand

Genomic View for RAB3IL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAB3IL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB3IL1 Gene

Proteins for RAB3IL1 Gene

  • Protein details for RAB3IL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBN0-R3GEF_HUMAN
    Recommended name:
    Guanine nucleotide exchange factor for Rab-3A
    Protein Accession:
    Q8TBN0
    Secondary Accessions:
    • Q86V32
    • Q9P1Q8

    Protein attributes for RAB3IL1 Gene

    Size:
    382 amino acids
    Molecular mass:
    42637 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for RAB3IL1 Gene

    Alternative splice isoforms for RAB3IL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB3IL1 Gene

Proteomics data for RAB3IL1 Gene at MOPED

Post-translational modifications for RAB3IL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB3IL1 Gene

No data available for DME Specific Peptides for RAB3IL1 Gene

Domains for RAB3IL1 Gene

Protein Domains for RAB3IL1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB3IL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBN0

UniProtKB/Swiss-Prot:

R3GEF_HUMAN :
  • Q8TBN0
Family:
  • Belongs to the SEC2 family.
genes like me logo Genes that share domains with RAB3IL1: view

No data available for Gene Families for RAB3IL1 Gene

Function for RAB3IL1 Gene

Molecular function for RAB3IL1 Gene

GENATLAS Biochemistry: RAB3A interacting protein (rabin3)-like 1
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RAB3IL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
genes like me logo Genes that share ontologies with RAB3IL1: view

Animal Model Products

CRISPR Products

miRNA for RAB3IL1 Gene

miRTarBase miRNAs that target RAB3IL1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for RAB3IL1 Gene

Localization for RAB3IL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB3IL1 Gene COMPARTMENTS Subcellular localization image for RAB3IL1 gene
Compartment Confidence
cytosol 2
golgi apparatus 1
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RAB3IL1 Gene

Pathways for RAB3IL1 Gene

SuperPathways for RAB3IL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAB3IL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RAB3IL1: view

No data available for Pathways by source for RAB3IL1 Gene

Compounds for RAB3IL1 Gene

(3) HMDB Compounds for RAB3IL1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with RAB3IL1: view

Transcripts for RAB3IL1 Gene

mRNA/cDNA for RAB3IL1 Gene

(10) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAB3IL1 Gene

RAB3A interacting protein (rabin3)-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB3IL1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB3IL1 Gene

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

Relevant External Links for RAB3IL1 Gene

GeneLoc Exon Structure for
RAB3IL1
ECgene alternative splicing isoforms for
RAB3IL1

Expression for RAB3IL1 Gene

mRNA expression in normal human tissues for RAB3IL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB3IL1 Gene

SOURCE GeneReport for Unigene cluster for RAB3IL1 Gene Hs.13759

genes like me logo Genes that share expressions with RAB3IL1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RAB3IL1 Gene

Orthologs for RAB3IL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB3IL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB3IL1 35
  • 99.47 (n)
  • 100 (a)
RAB3IL1 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB3IL1 35
  • 89.35 (n)
  • 90.84 (a)
RAB3IL1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3IL1 35
  • 89.36 (n)
  • 89.63 (a)
RAB3IL1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3il1 35
  • 84.55 (n)
  • 86.13 (a)
Rab3il1 16
Rab3il1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3IL1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab3il1 35
  • 85.28 (n)
  • 86.97 (a)
chicken
(Gallus gallus)
Aves RAB3IL1 35
  • 72.8 (n)
  • 75.92 (a)
RAB3IL1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB3IL1 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489083 35
  • 68.35 (n)
  • 67.56 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5564 35
zebrafish
(Danio rerio)
Actinopterygii LOC100331248 35
  • 69.72 (n)
  • 69.72 (a)
RAB3IL1 36
  • 65 (a)
OneToOne
wufd02h10 35
worm
(Caenorhabditis elegans)
Secernentea F54C9.11 35
  • 46.02 (n)
  • 38.06 (a)
F54C9.11 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for RAB3IL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB3IL1 Gene

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

Paralogs for RAB3IL1 Gene

Paralogs for RAB3IL1 Gene

Selected SIMAP similar genes for RAB3IL1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for RAB3IL1 Gene

genes like me logo Genes that share paralogs with RAB3IL1: view

Variants for RAB3IL1 Gene

Sequence variations from dbSNP and Humsavar for RAB3IL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs13966 -- 61,897,520(+) GTGGG(C/T)GATCT utr-variant-3-prime
rs174469 -- 61,899,971(-) TCTCC(A/G)TGGTG intron-variant
rs174470 -- 61,902,136(+) gtggt(A/G)aaacc intron-variant
rs174471 -- 61,902,565(+) GGTCA(C/T)GGGGG intron-variant
rs174472 -- 61,904,484(+) ACAGT(A/G)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB3IL1 Gene

Variant ID Type Subtype PubMed ID
nsv528697 CNV Loss 19592680
nsv897613 CNV Loss 21882294
nsv468585 CNV Loss 19166990
nsv897615 CNV Loss 21882294
nsv897616 CNV Loss 21882294

Relevant External Links for RAB3IL1 Gene

HapMap Linkage Disequilibrium report
RAB3IL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB3IL1 Gene

Disorders for RAB3IL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for RAB3IL1 Gene including...

Search for RAB3IL1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for RAB3IL1 Gene

Relevant External Links for RAB3IL1

Genetic Association Database (GAD)
RAB3IL1
genes like me logo Genes that share disorders with RAB3IL1: view

No data available for UniProtKB/Swiss-Prot for RAB3IL1 Gene

Publications for RAB3IL1 Gene

  1. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4
  2. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (PMID: 21829377) Lemaitre R.N. … Steffen L.M. (PLoS Genet. 2011) 3 48
  3. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3 48
  4. GRAB: a physiologic guanine nucleotide exchange factor for Rab3A, which interacts with inositol hexakisphosphate kinase. (PMID: 11516400) Luo H.R. … Snyder S.H. (Neuron 2001) 2 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for RAB3IL1 Gene

Sources for RAB3IL1 Gene

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