Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Identity

Alias (NCBI)INAG1
PREL1
RARP1
RIAM
HGNC (Hugo) APBB1IP
HGNC Alias symbINAG1
RIAM
HGNC Alias nameRap1-GTP-interacting adaptor molecule
HGNC Previous nameamyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein
LocusID (NCBI) 54518
Atlas_Id 43122
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 26438341 and ends at 26567803 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;12)(p12;q24) APBB1IP/SCARB1

External links

 

Nomenclature
HGNC (Hugo)APBB1IP   17379
Cards
Entrez_Gene (NCBI)APBB1IP    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]  ENSG00000077420 [Sequence]  chr10:26438341-26567803 [Contig_View]  APBB1IP [Vega]
ICGC DataPortalENSG00000077420
TCGA cBioPortalAPBB1IP
AceView (NCBI)APBB1IP
Genatlas (Paris)APBB1IP
SOURCE (Princeton)APBB1IP
Genetics Home Reference (NIH)APBB1IP
Genomic and cartography
GoldenPath hg38 (UCSC)APBB1IP  -     chr10:26438341-26567803 +  10p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APBB1IP  -     10p12.1   [Description]    (hg19-Feb_2009)
GoldenPathAPBB1IP - 10p12.1 [CytoView hg19]  APBB1IP - 10p12.1 [CytoView hg38]
ImmunoBaseENSG00000077420
Genome Data Viewer NCBIAPBB1IP [Mapview hg19]  
OMIM609036   
Gene and transcription
Genbank (Entrez)AB085852 AK000812 AK303597 AK308916 AY152730
RefSeq transcript (Entrez)NM_019043
Consensus coding sequences : CCDS (NCBI)APBB1IP
Gene ExpressionAPBB1IP [ NCBI-GEO ]   APBB1IP [ EBI - ARRAY_EXPRESS ]   APBB1IP [ SEEK ]   APBB1IP [ MEM ]
Gene Expression Viewer (FireBrowse)APBB1IP [ Firebrowse - Broad ]
GenevisibleExpression of APBB1IP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54518
GTEX Portal (Tissue expression)APBB1IP
Human Protein AtlasENSG00000077420-APBB1IP [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ7Z5R6
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RA (PS50200)   
Domains : Interpro (EBI)GRB/APBB1IP    PH-like_dom_sf    PH_APBB1IP    PH_domain    RA_dom    Ubiquitin-like_domsf   
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
PDB (RSDB)2MWN    3ZDL   
PDB Europe2MWN    3ZDL   
PDB (PDBSum)2MWN    3ZDL   
PDB (IMB)2MWN    3ZDL   
Structural Biology KnowledgeBase2MWN    3ZDL   
SCOP (Structural Classification of Proteins)2MWN    3ZDL   
CATH (Classification of proteins structures)2MWN    3ZDL   
SuperfamilyQ7Z5R6
AlphaFold pdb e-kbQ7Z5R6   
Human Protein Atlas [tissue]ENSG00000077420-APBB1IP [tissue]
HPRD16420
Protein Interaction databases
DIP (DOE-UCLA)Q7Z5R6
IntAct (EBI)Q7Z5R6
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  cytosol  cytoskeleton  plasma membrane  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  cytosol  cytoskeleton  plasma membrane  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
Homologs : HomoloGeneAPBB1IP
Homology/Alignments : Family Browser (UCSC)APBB1IP
Gene fusions - Rearrangements
Fusion : MitelmanAPBB1IP/DNAJC1 [10p12.1/10p12.31]  
Fusion : MitelmanFRMD4A/APBB1IP [10p13/10p12.1]  
Fusion : MitelmanWAC/APBB1IP [10p12.1/10p12.1]  
Fusion : QuiverAPBB1IP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPBB1IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBB1IP
dbVarAPBB1IP
ClinVarAPBB1IP
MonarchAPBB1IP
1000_GenomesAPBB1IP 
Exome Variant ServerAPBB1IP
GNOMAD BrowserENSG00000077420
Varsome BrowserAPBB1IP
ACMGAPBB1IP variants
VarityQ7Z5R6
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]  
Somatic Mutations in Cancer : COSMIC3DAPBB1IP
Mutations and Diseases : HGMDAPBB1IP
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAPBB1IP
DgiDB (Drug Gene Interaction Database)APBB1IP
DoCM (Curated mutations)APBB1IP
CIViC (Clinical Interpretations of Variants in Cancer)APBB1IP
Cancer3DAPBB1IP
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609036   
Orphanet
DisGeNETAPBB1IP
MedgenAPBB1IP
Genetic Testing Registry APBB1IP
NextProtQ7Z5R6 [Medical]
GENETestsAPBB1IP
Target ValidationAPBB1IP
Huge Navigator APBB1IP [HugePedia]
ClinGenAPBB1IP
Clinical trials, drugs, therapy
MyCancerGenomeAPBB1IP
Protein Interactions : CTDAPBB1IP
Pharm GKB GenePA134933955
PharosQ7Z5R6
Clinical trialAPBB1IP
Miscellaneous
canSAR (ICR)APBB1IP
HarmonizomeAPBB1IP
DataMed IndexAPBB1IP
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAPBB1IP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:59:38 CEST 2021
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