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APBB1 (amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65))

Identity

Other namesFE65
MGC:9072
RIR
HGNC (Hugo) APBB1
LocusID (NCBI) 322
Location 11p15.4
Location_base_pair Starts at 6416354 and ends at 6440341 bp from pter ( according to hg19-Feb_2009)
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 (A4) precursor protein-binding, family B, member 1 (Fe65)
GeneCards (Weizmann)APBB1
Ensembl (Hinxton)ENSG00000166313 [Gene_View]  chr11:6416354-6440341 [Contig_View]  APBB1 [Vega]
ICGC DataPortalENSG00000166313
cBioPortalAPBB1
AceView (NCBI)APBB1
Genatlas (Paris)APBB1
WikiGenes322
SOURCE (Princeton)NM_001164 NM_001257319 NM_001257320 NM_001257321 NM_001257322 NM_001257323 NM_001257324 NM_001257325 NM_001257326 NM_145689
Genomic and cartography
GoldenPath (UCSC)APBB1  -  11p15.4   chr11:6416354-6440341 -  11p15.4   [Description]    (hg19-Feb_2009)
EnsemblAPBB1 - 11p15.4 [CytoView]
Mapping of homologs : NCBIAPBB1 [Mapview]
OMIM602709   
Gene and transcription
Genbank (Entrez)AF394214 AK293452 AK293550 AK293554 AK293613
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)AC_000143 NC_000011 NC_018922 NG_029615 NT_009237 NW_001838021 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 [ SEEK ]   APBB1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00213 (Uniprot)
NextProtO00213  [Medical]
With graphics : InterProO00213
Splice isoforms : SwissVarO00213 (Swissvar)
Domaine pattern : Prosite (Expaxy)PID (PS01179)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)PH_like_dom [organisation]   PTB/PI_dom [organisation]   WW_dom [organisation]  
Related proteins : CluSTrO00213
Domain families : Pfam (Sanger)PID (PF00640)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00640    pfam00397   
Domain families : Smart (EMBL)PTB (SM00462)  WW (SM00456)  
DMDM Disease mutations322
Blocks (Seattle)O00213
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   
Human Protein AtlasENSG00000166313 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO00213
HPRD04087
IPIIPI00010843   IPI00783577   IPI00922281   IPI01014694   IPI00383108   IPI01009765   IPI00973991   IPI00979222   IPI00941010   
Protein Interaction databases
DIP (DOE-UCLA)O00213
IntAct (EBI)O00213
FunCoupENSG00000166313
BioGRIDAPBB1
InParanoidO00213
Interologous Interaction database O00213
IntegromeDBAPBB1
STRING (EMBL)APBB1
Ontologies - Pathways
Ontology : AmiGObeta-amyloid binding  beta-amyloid binding  neuron migration  chromatin binding  protein binding  nucleus  nucleus  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  axon guidance  transcription factor binding  visual learning  nuclear speck  lamellipodium  extracellular matrix organization  negative regulation of cell growth  growth cone  histone binding  positive regulation of apoptotic process  histone H4 acetylation  synapse  negative regulation of neuron differentiation  positive regulation of DNA repair  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of thymidylate synthase biosynthetic process  proline-rich region binding  
Ontology : EGO-EBIbeta-amyloid binding  beta-amyloid binding  neuron migration  chromatin binding  protein binding  nucleus  nucleus  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  axon guidance  transcription factor binding  visual learning  nuclear speck  lamellipodium  extracellular matrix organization  negative regulation of cell growth  growth cone  histone binding  positive regulation of apoptotic process  histone H4 acetylation  synapse  negative regulation of neuron differentiation  positive regulation of DNA repair  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of thymidylate synthase biosynthetic process  proline-rich region binding  
Pathways : KEGGAlzheimer's disease   
Protein Interaction DatabaseAPBB1
Wikipedia pathwaysAPBB1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)APBB1
snp3D : Map Gene to Disease322
SNP (GeneSNP Utah)APBB1
SNP : HGBaseAPBB1
Genetic variants : HAPMAPAPBB1
Exome VariantAPBB1
1000_GenomesAPBB1 
ICGC programENSG00000166313 
Somatic Mutations in Cancer : COSMICAPBB1 
CONAN: Copy Number AnalysisAPBB1 
Mutations and Diseases : HGMDAPBB1
Genomic VariantsAPBB1  APBB1 [DGVbeta]
dbVarAPBB1
ClinVarAPBB1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM602709   
MedgenAPBB1
GENETestsAPBB1
Disease Genetic AssociationAPBB1
Huge Navigator APBB1 [HugePedia]  APBB1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAPBB1
Homology/Alignments : Family Browser (UCSC)APBB1
Phylogenetic Trees/Animal Genes : TreeFamAPBB1
Chemical/Protein Interactions : CTD322
Chemical/Pharm GKB GenePA24873
Clinical trialAPBB1
Cancer Resource (Charite)ENSG00000166313
Other databases
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
CoreMineAPBB1
iHOPAPBB1
OncoSearchAPBB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:43:02 CEST 2014

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