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APBB1 (amyloid beta precursor protein binding family B member 1)

Identity

Other namesFE65
MGC:9072
RIR
HGNC (Hugo) APBB1
LocusID (NCBI) 322
Atlas_Id 665
Location 11p15.4
Location_base_pair Starts at 6416354 and ends at 6440341 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APBB1 (11p15.4) / UBC (12q24.31)FAM160A2 (11p15.4) / APBB1 (11p15.4)FAM160A2 11p15.4 / APBB1 11p15.4

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)APBB1   581
Cards
Entrez_Gene (NCBI)APBB1  322  amyloid beta precursor protein binding family B member 1
GeneCards (Weizmann)APBB1
Ensembl hg19 (Hinxton)ENSG00000166313 [Gene_View]  chr11:6416354-6440341 [Contig_View]  APBB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166313 [Gene_View]  chr11:6416354-6440341 [Contig_View]  APBB1 [Vega]
ICGC DataPortalENSG00000166313
TCGA cBioPortalAPBB1
AceView (NCBI)APBB1
Genatlas (Paris)APBB1
WikiGenes322
SOURCE (Princeton)APBB1
Genomic and cartography
GoldenPath hg19 (UCSC)APBB1  -     chr11:6416354-6440341 -  11p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APBB1  -     11p15.4   [Description]    (hg38-Dec_2013)
EnsemblAPBB1 - 11p15.4 [CytoView hg19]  APBB1 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBIAPBB1 [Mapview hg19]  APBB1 [Mapview hg38]
OMIM602709   
Gene and transcription
Genbank (Entrez)AF394214 AK098207 AK293452 AK293550 AK293554
RefSeq transcript (Entrez)NM_001164 NM_001257319 NM_001257320 NM_001257321 NM_001257322 NM_001257323 NM_001257324 NM_001257325 NM_001257326 NM_145689
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_029615 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)APBB1
Cluster EST : UnigeneHs.372840 [ NCBI ]
CGAP (NCI)Hs.372840
Alternative Splicing : Fast-db (Paris)GSHG0005536
Alternative Splicing GalleryENSG00000166313
Gene ExpressionAPBB1 [ NCBI-GEO ]   APBB1 [ EBI - ARRAY_EXPRESS ]   APBB1 [ SEEK ]   APBB1 [ MEM ]
Gene Expression Viewer (FireBrowse)APBB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)322
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00213 (Uniprot)
NextProtO00213  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00213
Splice isoforms : SwissVarO00213 (Swissvar)
PhosPhoSitePlusO00213
Domaine pattern : Prosite (Expaxy)PID (PS01179)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)PH_dom-like    PTB/PI_dom    WW_dom   
Domain families : Pfam (Sanger)PID (PF00640)   
Domain families : Pfam (NCBI)pfam00640   
Domain families : Smart (EMBL)PTB (SM00462)  WW (SM00456)  
DMDM Disease mutations322
Blocks (Seattle)APBB1
PDB (SRS)2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
PDB (PDBSum)2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
PDB (IMB)2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
PDB (RSDB)2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
Structural Biology KnowledgeBase2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
SCOP (Structural Classification of Proteins)2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
CATH (Classification of proteins structures)2E45    2HO2    2IDH    2OEI    3D8D    3D8E    3D8F    3DXC    3DXD    3DXE   
SuperfamilyO00213
Human Protein AtlasENSG00000166313
Peptide AtlasO00213
HPRD04087
IPIIPI00010843   IPI00783577   IPI00922281   IPI01014694   IPI00383108   IPI01009765   IPI00973991   IPI00979222   IPI00941010   
Protein Interaction databases
DIP (DOE-UCLA)O00213
IntAct (EBI)O00213
FunCoupENSG00000166313
BioGRIDAPBB1
STRING (EMBL)APBB1
ZODIACAPBB1
Ontologies - Pathways
QuickGOO00213
Ontology : AmiGObeta-amyloid binding  beta-amyloid binding  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  plasma membrane  double-strand break repair  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  cellular response to DNA damage stimulus  cell cycle arrest  signal transduction  axonogenesis  transcription factor binding  transcription factor binding  response to iron ion  positive regulation of neuron projection development  nuclear speck  lamellipodium  negative regulation of cell growth  growth cone  protein complex binding  histone binding  presynaptic membrane  neuronal cell body  positive regulation of apoptotic process  dendritic spine  protein complex  histone H4 acetylation  main axon  synapse  postsynaptic membrane  positive regulation of DNA repair  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  tau protein binding  perinuclear region of cytoplasm  positive regulation of protein secretion  negative regulation of thymidylate synthase biosynthetic process  proline-rich region binding  growth cone lamellipodium  growth cone filopodium  
Ontology : EGO-EBIbeta-amyloid binding  beta-amyloid binding  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  plasma membrane  double-strand break repair  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  cellular response to DNA damage stimulus  cell cycle arrest  signal transduction  axonogenesis  transcription factor binding  transcription factor binding  response to iron ion  positive regulation of neuron projection development  nuclear speck  lamellipodium  negative regulation of cell growth  growth cone  protein complex binding  histone binding  presynaptic membrane  neuronal cell body  positive regulation of apoptotic process  dendritic spine  protein complex  histone H4 acetylation  main axon  synapse  postsynaptic membrane  positive regulation of DNA repair  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  tau protein binding  perinuclear region of cytoplasm  positive regulation of protein secretion  negative regulation of thymidylate synthase biosynthetic process  proline-rich region binding  growth cone lamellipodium  growth cone filopodium  
Pathways : KEGGAlzheimer's disease   
NDEx Network
Atlas of Cancer Signalling NetworkAPBB1
Wikipedia pathwaysAPBB1
Orthology - Evolution
OrthoDB322
GeneTree (enSembl)ENSG00000166313
Phylogenetic Trees/Animal Genes : TreeFamAPBB1
Homologs : HomoloGeneAPBB1
Homology/Alignments : Family Browser (UCSC)APBB1
Gene fusions - Rearrangements
Fusion: TCGAFAM160A2 11p15.4 APBB1 11p15.4 OV
Polymorphisms : SNP, variants
NCBI Variation ViewerAPBB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBB1
dbVarAPBB1
ClinVarAPBB1
1000_GenomesAPBB1 
Exome Variant ServerAPBB1
ExAC (Exome Aggregation Consortium)APBB1 (select the gene name)
SNP (GeneSNP Utah)APBB1
SNP : HGBaseAPBB1
Genetic variants : HAPMAPAPBB1
Genomic Variants (DGV)APBB1 [DGVbeta]
Mutations
ICGC Data PortalAPBB1 
TCGA Data PortalAPBB1 
Broad Tumor PortalAPBB1
OASIS PortalAPBB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPBB1 
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 APBB1
DgiDB (Drug Gene Interaction Database)APBB1
DoCM (Curated mutations)APBB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APBB1 (select a term)
intoGenAPBB1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:6416354-6440341
CONAN: Copy Number AnalysisAPBB1 
Mutations and Diseases : HGMDAPBB1
OMIM602709   
MedgenAPBB1
Genetic Testing Registry APBB1
NextProtO00213 [Medical]
TSGene322
GENETestsAPBB1
Huge Navigator APBB1 [HugePedia]  APBB1 [HugeCancerGEM]
snp3D : Map Gene to Disease322
BioCentury BCIQAPBB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD322
Chemical/Pharm GKB GenePA24873
Clinical trialAPBB1
Miscellaneous
canSAR (ICR)APBB1 (select the gene name)
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPBB1
GoPubMedAPBB1
iHOPAPBB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 17:36:00 CEST 2016

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