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APBB1IP (amyloid beta precursor protein binding family B member 1 interacting protein)

Identity

Alias_namesamyloid beta (A4) precursor protein-binding
Alias_symbol (synonym)INAG1
RIAM
Other aliasPREL1
RARP1
HGNC (Hugo) APBB1IP
LocusID (NCBI) 54518
Atlas_Id 43122
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 26438337 and ends at 26567803 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APBB1IP (10p12.1) / ACTG1 (17q25.3)APBB1IP (10p12.1) / DNAJC1 (10p12.31)APBB1IP (10p12.1) / SCARB1 (12q24.31)
FRMD4A (10p13) / APBB1IP (10p12.1)WAC (10p12.1) / APBB1IP (10p12.1)APBB1IP 10p12.1 / DNAJC1 10p12.31
FRMD4A 10p13 / APBB1IP 10p12.1WAC 10p12.1 / APBB1IP 10p12.1

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)APBB1IP   17379
Cards
Entrez_Gene (NCBI)APBB1IP  54518  amyloid beta precursor protein binding family B member 1 interacting protein
AliasesINAG1; PREL1; RARP1; RIAM
GeneCards (Weizmann)APBB1IP
Ensembl hg19 (Hinxton)ENSG00000077420 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077420 [Gene_View]  chr10:26438337-26567803 [Contig_View]  APBB1IP [Vega]
ICGC DataPortalENSG00000077420
TCGA cBioPortalAPBB1IP
AceView (NCBI)APBB1IP
Genatlas (Paris)APBB1IP
WikiGenes54518
SOURCE (Princeton)APBB1IP
Genetics Home Reference (NIH)APBB1IP
Genomic and cartography
GoldenPath hg38 (UCSC)APBB1IP  -     chr10:26438337-26567803 +  10p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APBB1IP  -     10p12.1   [Description]    (hg19-Feb_2009)
EnsemblAPBB1IP - 10p12.1 [CytoView hg19]  APBB1IP - 10p12.1 [CytoView hg38]
Mapping of homologs : NCBIAPBB1IP [Mapview hg19]  APBB1IP [Mapview hg38]
OMIM609036   
Gene and transcription
Genbank (Entrez)AB085852 AK000812 AK303597 AK308916 AY152730
RefSeq transcript (Entrez)NM_019043
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APBB1IP
Cluster EST : UnigeneHs.310421 [ NCBI ]
CGAP (NCI)Hs.310421
Alternative Splicing GalleryENSG00000077420
Gene ExpressionAPBB1IP [ NCBI-GEO ]   APBB1IP [ EBI - ARRAY_EXPRESS ]   APBB1IP [ SEEK ]   APBB1IP [ MEM ]
Gene Expression Viewer (FireBrowse)APBB1IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54518
GTEX Portal (Tissue expression)APBB1IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z5R6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z5R6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z5R6
Splice isoforms : SwissVarQ7Z5R6
PhosPhoSitePlusQ7Z5R6
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RA (PS50200)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    RA_dom    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)PH (PF00169)    RA (PF00788)   
Domain families : Pfam (NCBI)pfam00169    pfam00788   
Domain families : Smart (EMBL)PH (SM00233)  RA (SM00314)  
Conserved Domain (NCBI)APBB1IP
DMDM Disease mutations54518
Blocks (Seattle)APBB1IP
PDB (SRS)2MWN    3ZDL   
PDB (PDBSum)2MWN    3ZDL   
PDB (IMB)2MWN    3ZDL   
PDB (RSDB)2MWN    3ZDL   
Structural Biology KnowledgeBase2MWN    3ZDL   
SCOP (Structural Classification of Proteins)2MWN    3ZDL   
CATH (Classification of proteins structures)2MWN    3ZDL   
SuperfamilyQ7Z5R6
Human Protein AtlasENSG00000077420
Peptide AtlasQ7Z5R6
HPRD16420
IPIIPI00376219   IPI00908880   IPI00383571   IPI00844056   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z5R6
IntAct (EBI)Q7Z5R6
FunCoupENSG00000077420
BioGRIDAPBB1IP
STRING (EMBL)APBB1IP
ZODIACAPBB1IP
Ontologies - Pathways
QuickGOQ7Z5R6
Ontology : AmiGOT cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell  protein binding  cytosol  cytosol  cytoskeleton  plasma membrane  focal adhesion  signal transduction  lamellipodium  T cell receptor complex  positive regulation of cell adhesion  
Ontology : EGO-EBIT cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell  protein binding  cytosol  cytosol  cytoskeleton  plasma membrane  focal adhesion  signal transduction  lamellipodium  T cell receptor complex  positive regulation of cell adhesion  
Pathways : KEGGRap1 signaling pathway   
NDEx NetworkAPBB1IP
Atlas of Cancer Signalling NetworkAPBB1IP
Wikipedia pathwaysAPBB1IP
Orthology - Evolution
OrthoDB54518
GeneTree (enSembl)ENSG00000077420
Phylogenetic Trees/Animal Genes : TreeFamAPBB1IP
HOVERGENQ7Z5R6
HOGENOMQ7Z5R6
Homologs : HomoloGeneAPBB1IP
Homology/Alignments : Family Browser (UCSC)APBB1IP
Gene fusions - Rearrangements
Fusion : MitelmanAPBB1IP/DNAJC1 [10p12.1/10p12.31]  
Fusion : MitelmanFRMD4A/APBB1IP [10p13/10p12.1]  [t(10;10)(p12;p13)]  
Fusion : MitelmanWAC/APBB1IP [10p12.1/10p12.1]  [t(10;10)(p12;p12)]  
Fusion: TCGAAPBB1IP 10p12.1 DNAJC1 10p12.31 SKCM
Fusion: TCGAFRMD4A 10p13 APBB1IP 10p12.1 SKCM
Fusion: TCGAWAC 10p12.1 APBB1IP 10p12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPBB1IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBB1IP
dbVarAPBB1IP
ClinVarAPBB1IP
1000_GenomesAPBB1IP 
Exome Variant ServerAPBB1IP
ExAC (Exome Aggregation Consortium)APBB1IP (select the gene name)
Genetic variants : HAPMAP54518
Genomic Variants (DGV)APBB1IP [DGVbeta]
DECIPHERAPBB1IP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPBB1IP 
Mutations
ICGC Data PortalAPBB1IP 
TCGA Data PortalAPBB1IP 
Broad Tumor PortalAPBB1IP
OASIS PortalAPBB1IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPBB1IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPBB1IP
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 APBB1IP
DgiDB (Drug Gene Interaction Database)APBB1IP
DoCM (Curated mutations)APBB1IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APBB1IP (select a term)
intoGenAPBB1IP
Cancer3DAPBB1IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609036   
Orphanet
MedgenAPBB1IP
Genetic Testing Registry APBB1IP
NextProtQ7Z5R6 [Medical]
TSGene54518
GENETestsAPBB1IP
Target ValidationAPBB1IP
Huge Navigator APBB1IP [HugePedia]
snp3D : Map Gene to Disease54518
BioCentury BCIQAPBB1IP
ClinGenAPBB1IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54518
Chemical/Pharm GKB GenePA134933955
Clinical trialAPBB1IP
Miscellaneous
canSAR (ICR)APBB1IP (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPBB1IP
EVEXAPBB1IP
GoPubMedAPBB1IP
iHOPAPBB1IP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:57:29 CEST 2017

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