Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAB3IP Gene

Aliases for RAB3IP Gene

  • RAB3A Interacting Protein 2 3 5
  • Rab3A-Interacting Protein 3 4
  • Rabin-3 3 4
  • Rabin3 2 3
  • RABIN8 3 4
  • Rab-3A-Interacting Protein 3
  • SSX2 Interacting Protein 3
  • SSX2-Interacting Protein 4

External Ids for RAB3IP Gene

Previous GeneCards Identifiers for RAB3IP Gene

  • GC00U991125
  • GC12U900020
  • GC12P069849
  • GC12P068418
  • GC12P070132
  • GC12P067181

Summaries for RAB3IP Gene

GeneCards Summary for RAB3IP Gene

RAB3IP (RAB3A Interacting Protein) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAB3IL1.

UniProtKB/Swiss-Prot for RAB3IP Gene

  • Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis.

Gene Wiki entry for RAB3IP Gene

Additional gene information for RAB3IP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3IP Gene

Genomics for RAB3IP Gene

Regulatory Elements for RAB3IP Gene

Enhancers for RAB3IP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H069685 1.2 Ensembl ENCODE 21.1 -50.1 -50140 5 ELF3 TBP PKNOX1 SIN3A ZNF2 GLIS2 ELK1 RCOR1 FOS DEK BEST3 RAB3IP LOC101928002 LYZ MDM2 ENSG00000279551
GH12H069655 1.2 Ensembl ENCODE 16.7 -81.5 -81470 3 HDAC1 PKNOX1 ATF1 TCF12 GATA2 ATF7 CREM CEBPB NR2F2 ZNF592 BEST3 RAB3IP LRRC10 LOC101928002 ENSG00000279551 LOC105369823
GH12H069738 1 ENCODE 13 +1.1 1062 2 ZNF133 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 SP3 SP5 MYRFL LOC101928002 RAB3IP CPSF6 ENSG00000257815 ENSG00000258052
GH12H069821 0.9 Ensembl ENCODE 13 +83.6 83622 0 JUN ZNF10 ZNF518A HIC1 ZFHX2 JUND GLIS1 SCRT2 FOS ZNF24 LOC101928002 RAB3IP MYRFL PIR46822
GH12H069900 1.1 Ensembl ENCODE 6.7 +162.8 162764 1 GTF2F1 CTCF ZNF384 EBF1 CEBPG ZNF2 RAD21 RFX5 IRF9 CC2D1A RAB3IP MYRFL ENSG00000257241
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB3IP on UCSC Golden Path with GeneCards custom track

Promoters for RAB3IP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053799 801 2000 ZNF133 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 SP3 SP5

Genomic Location for RAB3IP Gene

Chromosome:
12
Start:
69,738,400 bp from pter
End:
69,823,204 bp from pter
Size:
84,805 bases
Orientation:
Plus strand

Genomic View for RAB3IP Gene

Genes around RAB3IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB3IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB3IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB3IP Gene

Proteins for RAB3IP Gene

  • Protein details for RAB3IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QF0-RAB3I_HUMAN
    Recommended name:
    Rab-3A-interacting protein
    Protein Accession:
    Q96QF0
    Secondary Accessions:
    • B7WPJ6
    • Q6PCE4
    • Q96A24
    • Q96QE6
    • Q96QE7
    • Q96QE8
    • Q96QE9
    • Q96QF1
    • Q9H673

    Protein attributes for RAB3IP Gene

    Size:
    476 amino acids
    Molecular mass:
    53021 Da
    Quaternary structure:
    • Interacts with the N-terminal region of SSX2. Interacts with the GDP-bound forms of RAB3A, RAB3D, RAB8A and RAB8B.

    Three dimensional structures from OCA and Proteopedia for RAB3IP Gene

    Alternative splice isoforms for RAB3IP Gene

neXtProt entry for RAB3IP Gene

Post-translational modifications for RAB3IP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB3IP Gene

Domains & Families for RAB3IP Gene

Gene Families for RAB3IP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB3IP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB3IP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QF0

UniProtKB/Swiss-Prot:

RAB3I_HUMAN :
  • Belongs to the SEC2 family.
Family:
  • Belongs to the SEC2 family.
genes like me logo Genes that share domains with RAB3IP: view

Function for RAB3IP Gene

Molecular function for RAB3IP Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis.

Gene Ontology (GO) - Molecular Function for RAB3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12007189
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with RAB3IP: view
genes like me logo Genes that share phenotypes with RAB3IP: view

Animal Models for RAB3IP Gene

MGI Knock Outs for RAB3IP:

Animal Model Products

CRISPR Products

miRNA for RAB3IP Gene

miRTarBase miRNAs that target RAB3IP

Clone Products

  • Applied Biological Materials Clones for RAB3IP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB3IP Gene

Localization for RAB3IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB3IP Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Note=Predominantly cytoplasmic but a small proportion colocalizes with SSX2 in the nucleus. Activation of protein kinase C results in redistribution to the periphery of lamellipodia. In the cytoskeleton, localizes to cortical actin.

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 RAB3IP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 2
plasma membrane 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12007189
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0030027 lamellipodium IEA --
genes like me logo Genes that share ontologies with RAB3IP: view

Pathways & Interactions for RAB3IP Gene

genes like me logo Genes that share pathways with RAB3IP: view

Gene Ontology (GO) - Biological Process for RAB3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006612 protein targeting to membrane IDA 23382462
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with RAB3IP: view

No data available for SIGNOR curated interactions for RAB3IP Gene

Drugs & Compounds for RAB3IP Gene

No Compound Related Data Available

Transcripts for RAB3IP Gene

Unigene Clusters for RAB3IP Gene

RAB3A interacting protein:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for RAB3IP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAB3IP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - -
SP6: -
SP7:

Relevant External Links for RAB3IP Gene

GeneLoc Exon Structure for
RAB3IP
ECgene alternative splicing isoforms for
RAB3IP

Expression for RAB3IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB3IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB3IP Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.6) and Brain - Cerebellum (x4.8).

Protein differential expression in normal tissues from HIPED for RAB3IP Gene

This gene is overexpressed in Retina (29.5), Fetal Brain (9.1), Fetal ovary (9.0), and Islet of Langerhans (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB3IP Gene



Protein tissue co-expression partners for RAB3IP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB3IP Gene:

RAB3IP

SOURCE GeneReport for Unigene cluster for RAB3IP Gene:

Hs.258209

mRNA Expression by UniProt/SwissProt for RAB3IP Gene:

Q96QF0-RAB3I_HUMAN
Tissue specificity: Expressed in brain, kidney, heart, pancreas and placenta. Not detected in skeletal muscle or liver.

Evidence on tissue expression from TISSUES for RAB3IP Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with RAB3IP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB3IP Gene

Orthologs for RAB3IP Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB3IP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB3IP 33 34
  • 99.93 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 97 (a)
OneToMany
RAB3IP 33
  • 94.37 (n)
cow
(Bos Taurus)
Mammalia RAB3IP 33 34
  • 93.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rab3ip 33
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Rab3ip 33 16 34
  • 84.97 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 86 (a)
OneToMany
RAB3IP 33
  • 82.08 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3ip 33
  • 73.3 (n)
zebrafish
(Danio rerio)
Actinopterygii rab3ip 33 34
  • 66.67 (n)
Dr.11691 33
worm
(Caenorhabditis elegans)
Secernentea F54C9.11 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for RAB3IP 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 RAB3IP Gene

ENSEMBL:
Gene Tree for RAB3IP (if available)
TreeFam:
Gene Tree for RAB3IP (if available)

Paralogs for RAB3IP Gene

Paralogs for RAB3IP Gene

(1) SIMAP similar genes for RAB3IP Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with RAB3IP: view

Variants for RAB3IP Gene

Sequence variations from dbSNP and Humsavar for RAB3IP Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000068644 -- 69,821,422(+) TCCTA(-/T)TTCCA nc-transcript-variant, utr-variant-3-prime
rs1000070182 -- 69,749,628(+) TATAA(A/G)TGCTT intron-variant, upstream-variant-2KB
rs1000090196 -- 69,786,034(+) TTTTT(-/C)CCTAA intron-variant
rs1000122453 -- 69,791,445(+) GAGTT(A/G)ATATC intron-variant
rs1000124379 -- 69,821,435(+) AGCTG(G/T)ATTGT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RAB3IP Gene

Variant ID Type Subtype PubMed ID
esv1958700 CNV deletion 18987734
esv2746020 CNV deletion 23290073
nsv52529 CNV deletion 16902084

Variation tolerance for RAB3IP Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB3IP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB3IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB3IP Gene

Disorders for RAB3IP Gene

Relevant External Links for RAB3IP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB3IP

No disorders were found for RAB3IP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB3IP Gene

Publications for RAB3IP Gene

  1. The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP. (PMID: 12007189) de Bruijn DR … van Kessel AG (Genes, chromosomes & cancer 2002) 3 4 22 60
  2. A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport. (PMID: 12221131) Hattula K … Peränen J (Molecular biology of the cell 2002) 2 3 4 60
  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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for RAB3IP Gene

Sources for RAB3IP Gene

Content
Loading form....