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    Aph1a aph1 homolog A, gamma secretase subunit [ Mus musculus (house mouse) ]

    Gene ID: 226548, updated on 31-Jan-2019

    Summary

    Official Symbol
    Aph1aprovided by MGI
    Official Full Name
    aph1 homolog A, gamma secretase subunitprovided by MGI
    Primary source
    MGI:MGI:2385110
    See related
    Ensembl:ENSMUSG00000015750
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    APH-1a; 6530402N02Rik
    Summary
    This gene encodes a subunit of the gamma-secretase complex, which is localized to the endoplasmic reticulum and golgi apparatus. Gamma-secretase is a multi-protein enzyme that catalyzes intramembraneous proteolysis of type I transmembrane proteins and is essential for many signaling pathways, including the Notch signaling pathway. Studies suggest that the protein encoded by this locus binds directly to substrates of the gamma-secretase complex, including the beta-amyloid precursor protein which is associated with Alzheimer disease progression. This gene is required for normal embryonic development and survival, and disruption is associated with defects in the yolk sack angiogenesis, neural tube formation, and somitogenesis. A pseudogene of this gene is located on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 104.8), adrenal adult (RPKM 94.8) and 28 other tissues See more
    Orthologs

    Genomic context

    See Aph1a in Genome Data Viewer
    Location:
    3; 3 F2.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (95893921..95898592)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (95697919..95702226)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA C920021L13 gene Neighboring gene circadian associated repressor of transcription Neighboring gene cDNA sequence BC028528 Neighboring gene carbonic anhydrase 14 Neighboring gene predicted gene, 46815 Neighboring gene acidic (leucine-rich) nuclear phosphoprotein 32 family, member E

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC7221, MGC36389, 6530402N02Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidase activity ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch receptor processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Notch receptor processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Notch receptor processing ISO
    Inferred from Sequence Orthology
    more info
     
    Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    amyloid precursor protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    amyloid precursor protein metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    amyloid-beta formation ISO
    Inferred from Sequence Orthology
    more info
     
    membrane protein ectodomain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    membrane protein intracellular domain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    metanephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of catalytic activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein processing ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    protein processing ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    gamma-secretase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    gamma-secretase complex ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    integral component of membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    gamma-secretase subunit APH-1A
    Names
    anterior pharynx defective 1a homolog
    aph-1alpha

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_146104.3NP_666216.1  gamma-secretase subunit APH-1A isoform 1

      See identical proteins and their annotated locations for NP_666216.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (1, also known as isoform S) is shorter and has a distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AC092855, AK148400, BY264531
      Consensus CDS
      CCDS17624.1
      UniProtKB/Swiss-Prot
      Q8BVF7
      UniProtKB/TrEMBL
      Q6GTF1
      Related
      ENSMUSP00000015894.5, ENSMUST00000015894.11
      Conserved Domains (1) summary
      pfam06105
      Location:3233
      Aph-1; Aph-1 protein
    2. NM_146134.2NP_666246.1  gamma-secretase subunit APH-1A isoform 2

      See identical proteins and their annotated locations for NP_666246.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2, also known as isoform L).
      Source sequence(s)
      AC092855, AK148400, BY264531, CX207467
      Consensus CDS
      CCDS50999.1
      UniProtKB/Swiss-Prot
      Q8BVF7
      UniProtKB/TrEMBL
      Q6GTF1
      Related
      ENSMUSP00000058846.8, ENSMUST00000056710.9
      Conserved Domains (1) summary
      pfam06105
      Location:3233
      Aph-1; Aph-1 protein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      95893921..95898592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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