ENSMUSG00000053040


Mus musculus

Features
Gene ID: ENSMUSG00000053040
  
Biological name :Aph1c
  
Synonyms : Aph1c / Putative gamma-secretase subunit APH-1C / Q9DCZ9
  
Possible biological names infered from orthology : APH1B / aph-1 homolog B, gamma-secretase subunit / Q8WW43
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: C
Gene start: 66814994
Gene end: 66834726
  
Corresponding Affymetrix probe sets: 10594638 (MoGene1.0st)   1429466_s_at (Mouse Genome 430 2.0 Array)   1435793_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000056476
Ensembl peptide - ENSMUSP00000130359
NCBI entrez gene - 68318     See in Manteia.
MGI - MGI:1915568
RefSeq - XM_006511398
RefSeq - NM_026674
RefSeq Peptide - NP_080950
swissprot - Q4R1J7
swissprot - Q9DCZ9
Ensembl - ENSMUSG00000053040
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aph1bENSDARG00000005612Danio rerio
 APH1BENSG00000138613Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Aph1b / Q8C7N7 / Gamma-secretase subunit APH-1B / Q8WW43* / aph-1 homolog B, gamma-secretase subunit*ENSMUSG0000003237595
Aph1a / Q8BVF7 / Gamma-secretase subunit APH-1A / Q96BI3* / aph-1 homolog A, gamma-secretase subunit*ENSMUSG0000001575056


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:0007219 Notch signaling pathway IBA
 biological_processGO:0007220 Notch receptor processing IBA
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 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:0070765 gamma-secretase complex IBA
 molecular_functionGO:0004175 endopeptidase activity IGI
 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:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Orl

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lama1tm1.1Ekb/Lama1tm1.1Ekb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aph1btm1Bdes/Aph1btm1Bdes,Aph1ctm1.1Bdes/Aph1ctm1.1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Aph1ctm1Bdes/Aph1ctm1Bdes
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


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






 

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