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RAB3IP (RAB3A interacting protein)

Identity

Alias_symbol (synonym)RABIN3
FLJ22548
RABIN8
Other alias
HGNC (Hugo) RAB3IP
LocusID (NCBI) 117177
Atlas_Id 43670
Location 12q15  [Link to chromosome band 12q15]
Location_base_pair Starts at 70172732 and ends at 70216984 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CNOT2 (12q15) / RAB3IP (12q15)OSBPL8 (12q21.2) / RAB3IP (12q15)RAB3IP (12q15) / FRS2 (12q15)
RAB3IP (12q15) / NUP107 (12q15)RAB3IP (12q15) / RAB3IP (12q15)RAB3IP (12q15) / SEMA5B (3q21.1)
SLC2A13 (12q12) / RAB3IP (12q15)CNOT2 12q15 / RAB3IP 12q15OSBPL8 12q21.2 / RAB3IP 12q15
RAB3IP 12q15 / FRS2 12q15RAB3IP 12q15 / NUP107 12q15SLC2A13 12q12 / RAB3IP 12q15

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RAB3IP   16508
Cards
Entrez_Gene (NCBI)RAB3IP  117177  RAB3A interacting protein
AliasesRABIN3; RABIN8
GeneCards (Weizmann)RAB3IP
Ensembl hg19 (Hinxton)ENSG00000127328 [Gene_View]  chr12:70172732-70216984 [Contig_View]  RAB3IP [Vega]
Ensembl hg38 (Hinxton)ENSG00000127328 [Gene_View]  chr12:70172732-70216984 [Contig_View]  RAB3IP [Vega]
ICGC DataPortalENSG00000127328
TCGA cBioPortalRAB3IP
AceView (NCBI)RAB3IP
Genatlas (Paris)RAB3IP
WikiGenes117177
SOURCE (Princeton)RAB3IP
Genetics Home Reference (NIH)RAB3IP
Genomic and cartography
GoldenPath hg19 (UCSC)RAB3IP  -     chr12:70172732-70216984 +  12q15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAB3IP  -     12q15   [Description]    (hg38-Dec_2013)
EnsemblRAB3IP - 12q15 [CytoView hg19]  RAB3IP - 12q15 [CytoView hg38]
Mapping of homologs : NCBIRAB3IP [Mapview hg19]  RAB3IP [Mapview hg38]
OMIM608686   
Gene and transcription
Genbank (Entrez)AI912718 AJ312896 AJ312897 AJ312898 AJ312899
RefSeq transcript (Entrez)NM_001024647 NM_001278402 NM_022456 NM_175623 NM_175624 NM_175625 NM_175626 NM_175627
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)RAB3IP
Cluster EST : UnigeneHs.258209 [ NCBI ]
CGAP (NCI)Hs.258209
Alternative Splicing GalleryENSG00000127328
Gene ExpressionRAB3IP [ NCBI-GEO ]   RAB3IP [ EBI - ARRAY_EXPRESS ]   RAB3IP [ SEEK ]   RAB3IP [ MEM ]
Gene Expression Viewer (FireBrowse)RAB3IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117177
GTEX Portal (Tissue expression)RAB3IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96QF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96QF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96QF0
Splice isoforms : SwissVarQ96QF0
PhosPhoSitePlusQ96QF0
Domains : Interpro (EBI)Sec2_N   
Domain families : Pfam (Sanger)Sec2p (PF06428)   
Domain families : Pfam (NCBI)pfam06428   
Conserved Domain (NCBI)RAB3IP
DMDM Disease mutations117177
Blocks (Seattle)RAB3IP
PDB (SRS)4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
PDB (PDBSum)4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
PDB (IMB)4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
PDB (RSDB)4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
Structural Biology KnowledgeBase4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
SCOP (Structural Classification of Proteins)4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
CATH (Classification of proteins structures)4LHX    4LHY    4LHZ    4UJ3    4UJ4    4UJ5   
SuperfamilyQ96QF0
Human Protein AtlasENSG00000127328
Peptide AtlasQ96QF0
HPRD10565
IPIIPI00044842   IPI00397221   IPI00395383   IPI00397216   IPI00397215   IPI00397214   IPI00607773   IPI00607662   IPI00470406   IPI01022783   IPI01018216   IPI01020873   IPI01021795   IPI01022459   IPI01022658   IPI01022430   
Protein Interaction databases
DIP (DOE-UCLA)Q96QF0
IntAct (EBI)Q96QF0
FunCoupENSG00000127328
BioGRIDRAB3IP
STRING (EMBL)RAB3IP
ZODIACRAB3IP
Ontologies - Pathways
QuickGOQ96QF0
Ontology : AmiGOprotein binding  nucleus  centrosome  cytosol  cytosol  cytoskeleton  protein targeting to membrane  Golgi to plasma membrane transport  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  lamellipodium  protein localization to organelle  ciliary basal body  cilium assembly  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  
Ontology : EGO-EBIprotein binding  nucleus  centrosome  cytosol  cytosol  cytoskeleton  protein targeting to membrane  Golgi to plasma membrane transport  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  lamellipodium  protein localization to organelle  ciliary basal body  cilium assembly  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  
NDEx NetworkRAB3IP
Atlas of Cancer Signalling NetworkRAB3IP
Wikipedia pathwaysRAB3IP
Orthology - Evolution
OrthoDB117177
GeneTree (enSembl)ENSG00000127328
Phylogenetic Trees/Animal Genes : TreeFamRAB3IP
HOVERGENQ96QF0
HOGENOMQ96QF0
Homologs : HomoloGeneRAB3IP
Homology/Alignments : Family Browser (UCSC)RAB3IP
Gene fusions - Rearrangements
Fusion : MitelmanOSBPL8/RAB3IP [12q21.2/12q15]  [t(12;12)(q15;q21)]  
Fusion: TCGACNOT2 12q15 RAB3IP 12q15 BRCA LUAD
Fusion: TCGAOSBPL8 12q21.2 RAB3IP 12q15 BRCA
Fusion: TCGARAB3IP 12q15 FRS2 12q15 BRCA
Fusion: TCGARAB3IP 12q15 NUP107 12q15 BLCA
Fusion: TCGASLC2A13 12q12 RAB3IP 12q15 LUAD
Fusion Cancer (Beijing)RAB3IP [12q15]  -  SEMA5B [3q21.1]  [FUSC004316]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAB3IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAB3IP
dbVarRAB3IP
ClinVarRAB3IP
1000_GenomesRAB3IP 
Exome Variant ServerRAB3IP
ExAC (Exome Aggregation Consortium)RAB3IP (select the gene name)
Genetic variants : HAPMAP117177
Genomic Variants (DGV)RAB3IP [DGVbeta]
DECIPHER (Syndromes)12:70172732-70216984  ENSG00000127328
CONAN: Copy Number AnalysisRAB3IP 
Mutations
ICGC Data PortalRAB3IP 
TCGA Data PortalRAB3IP 
Broad Tumor PortalRAB3IP
OASIS PortalRAB3IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAB3IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAB3IP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RAB3IP
DgiDB (Drug Gene Interaction Database)RAB3IP
DoCM (Curated mutations)RAB3IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAB3IP (select a term)
intoGenRAB3IP
Cancer3DRAB3IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608686   
Orphanet
MedgenRAB3IP
Genetic Testing Registry RAB3IP
NextProtQ96QF0 [Medical]
TSGene117177
GENETestsRAB3IP
Huge Navigator RAB3IP [HugePedia]
snp3D : Map Gene to Disease117177
BioCentury BCIQRAB3IP
ClinGenRAB3IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117177
Chemical/Pharm GKB GenePA34136
Clinical trialRAB3IP
Miscellaneous
canSAR (ICR)RAB3IP (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAB3IP
EVEXRAB3IP
GoPubMedRAB3IP
iHOPRAB3IP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:16:34 CEST 2017

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