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Aliases for RAB3IL1 Gene

Aliases for RAB3IL1 Gene

  • RAB3A Interacting Protein Like 1 2 3
  • RAB3A Interacting Protein (Rabin3)-Like 1 2 3 5
  • Rab3A-Interacting-Like Protein 1 3 4
  • Rabin3-Like 1 3 4
  • 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 Like 1) is a Protein Coding gene. 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

Chromosome:
11
Start:
61,897,240 bp from pter
End:
61,946,311 bp from pter
Size:
49,072 bases
Orientation:
Minus strand

Genomic View for RAB3IL1 Gene

Genes around RAB3IL1 on UCSC Golden Path with GeneCards custom track

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

Antibody Products

No data available for DME Specific Peptides for RAB3IL1 Gene

Domains & Families 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 :
  • Belongs to the SEC2 family.
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:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
genes like me logo Genes that share ontologies with RAB3IL1: view
genes like me logo Genes that share phenotypes with RAB3IL1: view

Animal Model Products

CRISPR Products

miRNA for RAB3IL1 Gene

miRTarBase miRNAs that target RAB3IL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 3
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 & Interactions 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 --
genes like me logo Genes that share ontologies with RAB3IL1: view

No data available for Pathways by source and SIGNOR curated interactions for RAB3IL1 Gene

Drugs & Compounds for RAB3IL1 Gene

(3) Drugs for RAB3IL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
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:

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

Protein differential expression in normal tissues from HIPED for RAB3IL1 Gene

This gene is overexpressed in Tlymphocyte (24.4), Testis (10.7), Uterus (8.5), Monocytes (6.4), and Pancreatic juice (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RAB3IL1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia RAB3IL1 35
  • 99.47 (n)
  • 100 (a)
RAB3IL1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab3il1 35
  • 85.28 (n)
  • 86.97 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3IL1 36
  • 58 (a)
OneToOne
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)
zebrafish
(Danio rerio)
Actinopterygii LOC100331248 35
  • 69.72 (n)
  • 69.72 (a)
wufd02h10 35
RAB3IL1 36
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5564 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

(1) 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
rs174477 - 61,908,172(-) GGCCC(A/G)AGGCC upstream-variant-2KB, reference, missense
rs3815045 - 61,902,474(+) GTAAT(A/G)GCTTT reference, missense
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

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

Variation tolerance for RAB3IL1 Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.08; 75.33% of all genes are more intolerant (likely to be disease-causing)

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

Relevant External Links for RAB3IL1

Genetic Association Database (GAD)
RAB3IL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB3IL1

No disorders were found for RAB3IL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB3IL1 Gene

Publications for RAB3IL1 Gene

  1. 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 67
  2. 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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 24823311) Guan W. … Steffen L.M. (Circ Cardiovasc Genet 2014) 3
  5. The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines. (PMID: 25260751) Charlaftis N. … Gallagher E. (EMBO J. 2014) 3

Products for RAB3IL1 Gene

Sources for RAB3IL1 Gene

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