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APH1B (aph-1 homolog B, gamma secretase subunit)

Identity

Alias_namesanterior pharynx defective 1 homolog B (C. elegans)
APH1B gamma secretase subunit
Alias_symbol (synonym)PSFL
APH-1B
DKFZp564D0372
Other aliasPRO1328
TAAV688
HGNC (Hugo) APH1B
LocusID (NCBI) 83464
Atlas_Id 47465
Location 15q22.2  [Link to chromosome band 15q22]
Location_base_pair Starts at 63569749 and ends at 63601325 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APH1B (15q22.2) / APH1B (15q22.2)APH1B (15q22.2) / ERP29 (12q24.13)

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)APH1B   24080
Cards
Entrez_Gene (NCBI)APH1B  83464  aph-1 homolog B, gamma secretase subunit
AliasesAPH-1B; PRO1328; PSFL; TAAV688
GeneCards (Weizmann)APH1B
Ensembl hg19 (Hinxton)ENSG00000138613 [Gene_View]  chr15:63569749-63601325 [Contig_View]  APH1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000138613 [Gene_View]  chr15:63569749-63601325 [Contig_View]  APH1B [Vega]
ICGC DataPortalENSG00000138613
TCGA cBioPortalAPH1B
AceView (NCBI)APH1B
Genatlas (Paris)APH1B
WikiGenes83464
SOURCE (Princeton)APH1B
Genetics Home Reference (NIH)APH1B
Genomic and cartography
GoldenPath hg19 (UCSC)APH1B  -     chr15:63569749-63601325 +  15q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APH1B  -     15q22.2   [Description]    (hg38-Dec_2013)
EnsemblAPH1B - 15q22.2 [CytoView hg19]  APH1B - 15q22.2 [CytoView hg38]
Mapping of homologs : NCBIAPH1B [Mapview hg19]  APH1B [Mapview hg38]
OMIM607630   
Gene and transcription
Genbank (Entrez)AA808355 AB189172 AB197122 AF508794 AI693802
RefSeq transcript (Entrez)NM_001145646 NM_031301
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)APH1B
Cluster EST : UnigeneHs.511703 [ NCBI ]
CGAP (NCI)Hs.511703
Alternative Splicing GalleryENSG00000138613
Gene ExpressionAPH1B [ NCBI-GEO ]   APH1B [ EBI - ARRAY_EXPRESS ]   APH1B [ SEEK ]   APH1B [ MEM ]
Gene Expression Viewer (FireBrowse)APH1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83464
GTEX Portal (Tissue expression)APH1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WW43   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WW43  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WW43
Splice isoforms : SwissVarQ8WW43
PhosPhoSitePlusQ8WW43
Domains : Interpro (EBI)Aph-1   
Domain families : Pfam (Sanger)Aph-1 (PF06105)   
Domain families : Pfam (NCBI)pfam06105   
Conserved Domain (NCBI)APH1B
DMDM Disease mutations83464
Blocks (Seattle)APH1B
SuperfamilyQ8WW43
Human Protein AtlasENSG00000138613
Peptide AtlasQ8WW43
HPRD06361
IPIIPI00291632   IPI00607845   IPI00556559   
Protein Interaction databases
DIP (DOE-UCLA)Q8WW43
IntAct (EBI)Q8WW43
FunCoupENSG00000138613
BioGRIDAPH1B
STRING (EMBL)APH1B
ZODIACAPH1B
Ontologies - Pathways
QuickGOQ8WW43
Ontology : AmiGOprotein binding  plasma membrane  Notch signaling pathway  Notch receptor processing  peptidase activity  integral component of membrane  protein processing  transport vesicle  membrane protein intracellular domain proteolysis  positive regulation of apoptotic process  positive regulation of catalytic activity  ephrin receptor signaling pathway  
Ontology : EGO-EBIprotein binding  plasma membrane  Notch signaling pathway  Notch receptor processing  peptidase activity  integral component of membrane  protein processing  transport vesicle  membrane protein intracellular domain proteolysis  positive regulation of apoptotic process  positive regulation of catalytic activity  ephrin receptor signaling pathway  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
NDEx NetworkAPH1B
Atlas of Cancer Signalling NetworkAPH1B
Wikipedia pathwaysAPH1B
Orthology - Evolution
OrthoDB83464
GeneTree (enSembl)ENSG00000138613
Phylogenetic Trees/Animal Genes : TreeFamAPH1B
HOVERGENQ8WW43
HOGENOMQ8WW43
Homologs : HomoloGeneAPH1B
Homology/Alignments : Family Browser (UCSC)APH1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPH1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APH1B
dbVarAPH1B
ClinVarAPH1B
1000_GenomesAPH1B 
Exome Variant ServerAPH1B
ExAC (Exome Aggregation Consortium)APH1B (select the gene name)
Genetic variants : HAPMAP83464
Genomic Variants (DGV)APH1B [DGVbeta]
DECIPHER (Syndromes)15:63569749-63601325  ENSG00000138613
CONAN: Copy Number AnalysisAPH1B 
Mutations
ICGC Data PortalAPH1B 
TCGA Data PortalAPH1B 
Broad Tumor PortalAPH1B
OASIS PortalAPH1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPH1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPH1B
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 APH1B
DgiDB (Drug Gene Interaction Database)APH1B
DoCM (Curated mutations)APH1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APH1B (select a term)
intoGenAPH1B
Cancer3DAPH1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607630   
Orphanet
MedgenAPH1B
Genetic Testing Registry APH1B
NextProtQ8WW43 [Medical]
TSGene83464
GENETestsAPH1B
Huge Navigator APH1B [HugePedia]
snp3D : Map Gene to Disease83464
BioCentury BCIQAPH1B
ClinGenAPH1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83464
Chemical/Pharm GKB GenePA142672600
Clinical trialAPH1B
Miscellaneous
canSAR (ICR)APH1B (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPH1B
EVEXAPH1B
GoPubMedAPH1B
iHOPAPH1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:56:04 CET 2017

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