ENSG00000138613


Homo sapiens

Features
Gene ID: ENSG00000138613
  
Biological name :APH1B
  
Synonyms : APH1B / aph-1 homolog B, gamma-secretase subunit / Q8WW43
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q22.2
Gene start: 63276018
Gene end: 63309126
  
Corresponding Affymetrix probe sets: 221036_s_at (Human Genome U133 Plus 2.0 Array)   226358_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453516
Ensembl peptide - ENSP00000453002
Ensembl peptide - ENSP00000453327
Ensembl peptide - ENSP00000261879
Ensembl peptide - ENSP00000369697
Ensembl peptide - ENSP00000369700
NCBI entrez gene - 83464     See in Manteia.
OMIM - 607630
RefSeq - XM_011522105
RefSeq - NM_001145646
RefSeq - NM_031301
RefSeq Peptide - NP_112591
RefSeq Peptide - NP_001139118
swissprot - H0YM95
swissprot - Q8WW43
swissprot - Q4R1J8
swissprot - H0YLT0
swissprot - H0YKZ9
Ensembl - ENSG00000138613
  
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
 aph1bENSDARG00000005612Danio rerio
 Aph1bENSMUSG00000032375Mus musculus
 Aph1cENSMUSG00000053040Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
APH1A / Q96BI3 / aph-1 homolog A, gamma-secretase subunitENSG0000011736257


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007219 Notch signaling pathway IBA
 biological_processGO:0007220 Notch receptor processing TAS
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0031293 membrane protein intracellular domain proteolysis TAS
 biological_processGO:0035333 Notch receptor processing, ligand-dependent TAS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030133 transport vesicle IDA
 cellular_componentGO:0070765 gamma-secretase complex IBA
 molecular_functionGO:0004175 endopeptidase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IDA


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






 

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