ENSG00000117362


Homo sapiens

Features
Gene ID: ENSG00000117362
  
Biological name :APH1A
  
Synonyms : APH1A / aph-1 homolog A, gamma-secretase subunit / Q96BI3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q21.2
Gene start: 150265399
Gene end: 150269580
  
Corresponding Affymetrix probe sets: 1554417_s_at (Human Genome U133 Plus 2.0 Array)   218389_s_at (Human Genome U133 Plus 2.0 Array)   237327_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000236017
Ensembl peptide - ENSP00000353380
Ensembl peptide - ENSP00000358105
Ensembl peptide - ENSP00000397473
NCBI entrez gene - 51107     See in Manteia.
OMIM - 607629
RefSeq - XM_017001417
RefSeq - NM_001077628
RefSeq - NM_001243771
RefSeq - NM_001243772
RefSeq - NM_016022
RefSeq Peptide - NP_001230700
RefSeq Peptide - NP_001230701
RefSeq Peptide - NP_057106
RefSeq Peptide - NP_001071096
swissprot - Q5TB21
swissprot - Q96BI3
Ensembl - ENSG00000117362
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 zgc:114200ENSDARG00000100633Danio rerio
 APH1AENSGALG00000045163Gallus gallus
 Aph1aENSMUSG00000015750Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
APH1B / Q8WW43 / aph-1 homolog B, gamma-secretase subunitENSG0000013861355


Protein motifs (from Interpro)
Interpro ID Name
 IPR009294  Gamma-secretase subunit Aph-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001656 metanephros development IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis IDA
 biological_processGO:0007219 Notch signaling pathway IBA
 biological_processGO:0007220 Notch receptor processing IEA
 biological_processGO:0016485 protein processing IDA
 biological_processGO:0031293 membrane protein intracellular domain proteolysis TAS
 biological_processGO:0034205 amyloid-beta formation IMP
 biological_processGO:0035333 Notch receptor processing, ligand-dependent TAS
 biological_processGO:0042982 amyloid precursor protein metabolic process IDA
 biological_processGO:0042987 amyloid precursor protein catabolic process IMP
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043085 positive regulation of catalytic activity IDA
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IDA
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 cellular_componentGO:0070765 gamma-secretase complex IDA
 molecular_functionGO:0004175 endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
EPH-ephrin mediated repulsion of cells
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH4 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000142192 APP / P05067 / amyloid beta precursor protein  / reaction
 ENSG00000143801 PSEN2 / P49810 / presenilin 2  / complex
 ENSG00000162736 NCSTN / Q92542 / nicastrin  / complex
 ENSG00000142856 Q13352 / ITGB3BP / integrin subunit beta 3 binding protein  / reaction
 ENSG00000205155 PSENEN / Q9NZ42 / presenilin enhancer gamma-secretase subunit  / complex
 ENSG00000064300 NGFR / P08138 / nerve growth factor receptor  / reaction
 ENSG00000134259 NGF / P01138 / nerve growth factor  / reaction
 ENSG00000080815 PSEN1 / P49768 / presenilin 1  / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr