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] See more...

Aliases for RAB3IL1 Gene

Aliases for RAB3IL1 Gene

  • RAB3A Interacting Protein Like 1 2 3 5
  • Guanine Nucleotide Exchange Factor For Rab-3A 3 4
  • 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 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. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAB3IP.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for RAB3IL1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB3IL1 Gene

Genomics for RAB3IL1 Gene

GeneHancer (GH) Regulatory Elements for RAB3IL1 Gene

Promoters and enhancers for RAB3IL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J061916 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 778.8 +25.6 25551 10.3 RBPJ SMARCE1 POLR2A NR2F6 RUNX1 CC2D1A L3MBTL2 DACH1 MNT TEAD4 RAB3IL1 GANAB NXF1 CPSF7 CSKMT TMEM179B TMEM138 INTS5 UBXN1 SNHG1
GH11J061947 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 750.6 -1.8 -1760 1.1 ZBTB40 CTCF RBPJ MIXL1 CC2D1A MAX RAD21 GTF2F1 CEBPG ZIC2 BEST1 RAB3IL1 lnc-FTH1-5
GH11J061950 Enhancer 0.8 CraniofacialAtlas dbSUPER 750.6 -1.1 -1118 0.2 CTCF ZIC2 LARP7 TRIM22 MTA3 CTBP1 IKZF1 HDGF NBN SIN3A BEST1 RAB3IL1 lnc-FTH1-5
GH11J061946 Promoter/Enhancer 0.5 EPDnew dbSUPER 750.6 0.0 -21 0.1 BEST1 RAB3IL1
GH11J061960 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 -22.6 -22613 16.4 SIN3A ZNF24 ZBTB40 SP1 ZBTB6 FOXA1 MLX RBPJ SMARCE1 POLR2A FTH1 ENSG00000279491 LOC399900 lnc-RAB3IL1-2 NXF1 WDR74 MTA2 INTS5 UBXN1 CPSF7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB3IL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB3IL1 gene promoter:
  • AML1a
  • AP-2gamma
  • c-Ets-1
  • LyF-1
  • NF-E2 p45
  • NRF-2
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for RAB3IL1 Gene

Genomic Locations for RAB3IL1 Gene
chr11:61,897,240-61,946,311
(GRCh38/hg38)
Size:
49,072 bases
Orientation:
Minus strand
chr11:61,664,773-61,687,741
(GRCh37/hg19)
Size:
22,969 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

Post-translational modifications for RAB3IL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB3IL1 Gene

Domains & Families for RAB3IL1 Gene

Gene Families for RAB3IL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB3IL1 Gene

Suggested Antigen Peptide Sequences for RAB3IL1 Gene

GenScript: Design optimal peptide antigens:
  • Rabin3-like 1 (R3GEF_HUMAN)

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

Function for RAB3IL1 Gene

Molecular function for RAB3IL1 Gene

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.
GENATLAS Biochemistry:
RAB3A interacting protein (rabin3)-like 1

Phenotypes From GWAS Catalog for RAB3IL1 Gene

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
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3IL1

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB3IL1 gene
Compartment Confidence
cytosol 5
nucleus 1
golgi apparatus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB3IL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAB3IL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RAB3IL1 Gene

Pathways & Interactions for RAB3IL1 Gene

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

Pathways by source for RAB3IL1 Gene

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 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

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3IL1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB3IL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAB3IL1 Gene:

RAB3IL1

SOURCE GeneReport for Unigene cluster for RAB3IL1 Gene:

Hs.13759

Evidence on tissue expression from TISSUES for RAB3IL1 Gene

  • Intestine(4.2)
  • Liver(4.2)
  • Bone(4)
genes like me logo Genes that share expression patterns with RAB3IL1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3IL1 33 32
  • 89.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAB3IL1 33 32
  • 89.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab3il1 32
  • 85.28 (n)
mouse
(Mus musculus)
Mammalia Rab3il1 17 33 32
  • 84.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3IL1 33
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB3IL1 33 32
  • 72.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB3IL1 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489083 32
  • 68.35 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331248 32
  • 69.72 (n)
RAB3IL1 33
  • 65 (a)
OneToOne
wufd02h10 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5564 32
worm
(Caenorhabditis elegans)
Secernentea F54C9.11 33 32
  • 46.02 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 40 (a)
OneToMany
Species where no ortholog for RAB3IL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB3IL1: view image

Paralogs for RAB3IL1 Gene

Paralogs for RAB3IL1 Gene

(1) SIMAP similar genes for RAB3IL1 Gene using alignment to 3 proteins:

  • R3GEF_HUMAN
  • E9PK89_HUMAN
  • H0YD19_HUMAN

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 Variation AA Info Type
rs1000057770 -- 61,929,174(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000113162 -- 61,906,514(-) C/A/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs1000253539 -- 61,936,602(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000266218 -- 61,918,321(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000284636 -- 61,936,884(-) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1070039 CNV deletion 25765185
nsv468585 CNV loss 19166990
nsv472106 CNV novel sequence insertion 20440878
nsv528697 CNV loss 19592680
nsv555171 CNV loss 21841781

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)

Additional Variant Information for RAB3IL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB3IL1

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

Disorders for RAB3IL1 Gene

Additional Disease Information for 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 … EUROSPAN consortium (PLoS genetics 2012) 3 43 56
  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 RN … Steffen LM (PLoS genetics 2011) 3 43 56
  3. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S … Barr FA (The Journal of cell biology 2010) 3 4 56
  4. GRAB: a physiologic guanine nucleotide exchange factor for Rab3A, which interacts with inositol hexakisphosphate kinase. (PMID: 11516400) Luo HR … Snyder SH (Neuron 2001) 2 3 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for RAB3IL1 Gene

Sources for RAB3IL1 Gene