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APBA1 (amyloid beta precursor protein binding family A member 1)

Identity

Alias_namesMINT1
amyloid beta (A4) precursor protein-binding, family A, member 1
Alias_symbol (synonym)D9S411E
X11
Other aliasLIN10
X11A
X11ALPHA
HGNC (Hugo) APBA1
LocusID (NCBI) 320
Atlas_Id 60414
Location 9q21.12  [Link to chromosome band 9q21]
Location_base_pair Starts at 69427533 and ends at 69672359 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DOCK1 (10q26.2) / APBA1 (9q21.11)

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)APBA1   578
Cards
Entrez_Gene (NCBI)APBA1  320  amyloid beta precursor protein binding family A member 1
AliasesD9S411E; LIN10; MINT1; X11; 
X11A; X11ALPHA
GeneCards (Weizmann)APBA1
Ensembl hg19 (Hinxton)ENSG00000107282 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107282 [Gene_View]  chr9:69427533-69672359 [Contig_View]  APBA1 [Vega]
ICGC DataPortalENSG00000107282
TCGA cBioPortalAPBA1
AceView (NCBI)APBA1
Genatlas (Paris)APBA1
WikiGenes320
SOURCE (Princeton)APBA1
Genetics Home Reference (NIH)APBA1
Genomic and cartography
GoldenPath hg38 (UCSC)APBA1  -     chr9:69427533-69672359 -  9q21.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APBA1  -     9q21.12   [Description]    (hg19-Feb_2009)
EnsemblAPBA1 - 9q21.12 [CytoView hg19]  APBA1 - 9q21.12 [CytoView hg38]
Mapping of homologs : NCBIAPBA1 [Mapview hg19]  APBA1 [Mapview hg38]
OMIM602414   
Gene and transcription
Genbank (Entrez)AF029106 AF047347 AL713639 BC156047 BC157030
RefSeq transcript (Entrez)NM_001163
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APBA1
Cluster EST : UnigeneHs.592974 [ NCBI ]
CGAP (NCI)Hs.592974
Alternative Splicing GalleryENSG00000107282
Gene ExpressionAPBA1 [ NCBI-GEO ]   APBA1 [ EBI - ARRAY_EXPRESS ]   APBA1 [ SEEK ]   APBA1 [ MEM ]
Gene Expression Viewer (FireBrowse)APBA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)320
GTEX Portal (Tissue expression)APBA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02410   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02410  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02410
Splice isoforms : SwissVarQ02410
PhosPhoSitePlusQ02410
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    PID (PS01179)   
Domains : Interpro (EBI)Apba1    PDZ    PH_dom-like    PTB/PI_dom   
Domain families : Pfam (Sanger)PDZ (PF00595)    PID (PF00640)   
Domain families : Pfam (NCBI)pfam00595    pfam00640   
Domain families : Smart (EMBL)PDZ (SM00228)  PTB (SM00462)  
Conserved Domain (NCBI)APBA1
DMDM Disease mutations320
Blocks (Seattle)APBA1
PDB (SRS)1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
PDB (PDBSum)1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
PDB (IMB)1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
PDB (RSDB)1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
Structural Biology KnowledgeBase1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
SCOP (Structural Classification of Proteins)1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
CATH (Classification of proteins structures)1AQC    1U37    1U38    1U39    1U3B    1X11    1X45    1Y7N   
SuperfamilyQ02410
Human Protein AtlasENSG00000107282
Peptide AtlasQ02410
HPRD03879
IPIIPI00294556   
Protein Interaction databases
DIP (DOE-UCLA)Q02410
IntAct (EBI)Q02410
FunCoupENSG00000107282
BioGRIDAPBA1
STRING (EMBL)APBA1
ZODIACAPBA1
Ontologies - Pathways
QuickGOQ02410
Ontology : AmiGObeta-amyloid binding  in utero embryonic development  protein binding  nucleus  Golgi apparatus  cytosol  protein complex assembly  intracellular protein transport  cell adhesion  chemical synaptic transmission  neurotransmitter secretion  nervous system development  locomotory behavior  synaptic vesicle  axo-dendritic transport  regulation of gene expression  glutamate secretion  gamma-aminobutyric acid secretion  membrane  multicellular organism growth  neuron projection  perinuclear region of cytoplasm  
Ontology : EGO-EBIbeta-amyloid binding  in utero embryonic development  protein binding  nucleus  Golgi apparatus  cytosol  protein complex assembly  intracellular protein transport  cell adhesion  chemical synaptic transmission  neurotransmitter secretion  nervous system development  locomotory behavior  synaptic vesicle  axo-dendritic transport  regulation of gene expression  glutamate secretion  gamma-aminobutyric acid secretion  membrane  multicellular organism growth  neuron projection  perinuclear region of cytoplasm  
NDEx NetworkAPBA1
Atlas of Cancer Signalling NetworkAPBA1
Wikipedia pathwaysAPBA1
Orthology - Evolution
OrthoDB320
GeneTree (enSembl)ENSG00000107282
Phylogenetic Trees/Animal Genes : TreeFamAPBA1
HOVERGENQ02410
HOGENOMQ02410
Homologs : HomoloGeneAPBA1
Homology/Alignments : Family Browser (UCSC)APBA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPBA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APBA1
dbVarAPBA1
ClinVarAPBA1
1000_GenomesAPBA1 
Exome Variant ServerAPBA1
ExAC (Exome Aggregation Consortium)APBA1 (select the gene name)
Genetic variants : HAPMAP320
Genomic Variants (DGV)APBA1 [DGVbeta]
DECIPHERAPBA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPBA1 
Mutations
ICGC Data PortalAPBA1 
TCGA Data PortalAPBA1 
Broad Tumor PortalAPBA1
OASIS PortalAPBA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPBA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPBA1
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 APBA1
DgiDB (Drug Gene Interaction Database)APBA1
DoCM (Curated mutations)APBA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APBA1 (select a term)
intoGenAPBA1
Cancer3DAPBA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602414   
Orphanet
MedgenAPBA1
Genetic Testing Registry APBA1
NextProtQ02410 [Medical]
TSGene320
GENETestsAPBA1
Target ValidationAPBA1
Huge Navigator APBA1 [HugePedia]
snp3D : Map Gene to Disease320
BioCentury BCIQAPBA1
ClinGenAPBA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD320
Chemical/Pharm GKB GenePA24869
Clinical trialAPBA1
Miscellaneous
canSAR (ICR)APBA1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPBA1
EVEXAPBA1
GoPubMedAPBA1
iHOPAPBA1
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 18 13:01:34 CEST 2017

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