ENSMUSG00000015750


Mus musculus

Features
Gene ID: ENSMUSG00000015750
  
Biological name :Aph1a
  
Synonyms : Aph1a / Gamma-secretase subunit APH-1A / Q8BVF7
  
Possible biological names infered from orthology : aph-1 homolog A, gamma-secretase subunit / Q96BI3
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: F2.1
Gene start: 95893969
Gene end: 95898288
  
Corresponding Affymetrix probe sets: 10359428 (MoGene1.0st)   10494312 (MoGene1.0st)   1424979_at (Mouse Genome 430 2.0 Array)   1424980_s_at (Mouse Genome 430 2.0 Array)   1451554_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000015894
Ensembl peptide - ENSMUSP00000058846
Ensembl peptide - ENSMUSP00000142972
NCBI entrez gene - 226548     See in Manteia.
MGI - MGI:2385110
RefSeq - NM_146104
RefSeq - NM_146134
RefSeq Peptide - NP_666216
RefSeq Peptide - NP_666246
swissprot - Q8BVF7
swissprot - Q6GTF1
swissprot - A0A0G2JF05
Ensembl - ENSMUSG00000015750
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 zgc:114200ENSDARG00000100633Danio rerio
 APH1AENSGALG00000045163Gallus gallus
 APH1AENSG00000117362Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Aph1b / Q8C7N7 / Gamma-secretase subunit APH-1B / Q8WW43* / aph-1 homolog B, gamma-secretase subunit*ENSMUSG0000003237555
Aph1c / Q9DCZ9 / Putative gamma-secretase subunit APH-1C / APH1B* / Q8WW43* / aph-1 homolog B, gamma-secretase subunit*ENSMUSG0000005304054


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001656 metanephros development IMP
 biological_processGO:0006509 membrane protein ectodomain proteolysis IEA
 biological_processGO:0007219 Notch signaling pathway IBA
 biological_processGO:0007220 Notch receptor processing IEA
 biological_processGO:0016485 protein processing IBA
 biological_processGO:0031293 membrane protein intracellular domain proteolysis IEA
 biological_processGO:0034205 amyloid-beta formation IEA
 biological_processGO:0042982 amyloid precursor protein metabolic process IEA
 biological_processGO:0042987 amyloid precursor protein catabolic process IEA
 biological_processGO:0043085 positive regulation of catalytic activity ISS
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 cellular_componentGO:0070765 gamma-secretase complex IEA
 molecular_functionGO:0004175 endopeptidase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity ISA


Pathways (from Reactome)
Pathway description
Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
EPH-ephrin mediated repulsion of cells
NOTCH3 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000934 abnormal telencephalon development "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Phox2a/Inppl1tm1Ssch/Inppl1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001691 abnormal somite shape "atypical characteristic surface configuration of a segmental mass along the notochord of the developing embryo" [J:37888]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hgftm1Jmw/Hgftm1Jmw,Tg(Mx1-cre)29-4Her/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0003227 abnormal vascular branching morphogenesis "increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004206 abnormal dermomyotome development "any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue" [J:50279, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005221 abnormal rostral-caudal axis patterning "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0006029 abnormal sclerotome "malformation of the one or more of the masses of mesodermal tissue that is derived from the somites and is adjacent to the notochord that give rise to the ribs and vertebrae" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0006341 small first branchial arch "reduced size of the first branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011732 decreased somite size "reduced size of any of the segmental masses along the notochord of the developing embryo" [MGI:smb]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0012701 increased embryonic neuroepithelium apoptosis "increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000019969 Psen1 / P49769 / presenilin 1 / P49768*  / complex
 ENSMUSG00000000120 Ngfr / nerve growth factor receptor / P08138*  / reaction
 ENSMUSG00000036835 Psenen / Q9CQR7 / Gamma-secretase subunit PEN-2 / Q9NZ42* / AD000671.1* / presenilin enhancer gamma-secretase subunit*  / complex
 ENSMUSG00000026923 Notch1 / Q01705 / Neurogenic locus notch homolog protein 1 Notch 1 extracellular truncation Notch 1 intracellular domain / P46531*  / reaction
 ENSMUSG00000010609 Psen2 / presenilin 2 / P49810*  / complex
 ENSMUSG00000027859 Ngf / P01139 / Beta-nerve growth factor / P01138* / nerve growth factor*  / reaction
 ENSMUSG00000062209 Erbb4 / Q61527 / Receptor tyrosine-protein kinase erbB-4 ERBB4 intracellular domain / Q15303* / erb-b2 receptor tyrosine kinase 4*  / reaction
 ENSMUSG00000027164 Traf6 / P70196 / TNF receptor-associated factor 6 / Q9Y4K3*  / reaction
 ENSMUSG00000003458 Ncstn / P57716 / Nicastrin / Q92542*  / complex
 ENSMUSG00000028549 Q9CQ82 / Itgb3bp / integrin beta 3 binding protein (beta3-endonexin) / Q13352* / integrin subunit beta 3 binding protein*  / reaction






 

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