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

Gene ID: 226548, updated on 27-Feb-2024

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 AllianceGenome:MGI:2385110
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
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
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Genomic context

See Aph1a in Genome Data Viewer
Location:
3 F2.1; 3 41.47 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (95801233..95805904)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (95893921..95898592)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S21 Neighboring gene RIKEN cDNA C920021L13 gene Neighboring gene STARR-positive B cell enhancer ABC_E9562 Neighboring gene circadian associated repressor of transcription Neighboring gene cDNA sequence BC028528 Neighboring gene STARR-positive B cell enhancer ABC_E2673 Neighboring gene carbonic anhydrase 14 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:95732686-95732932 Neighboring gene predicted gene, 46815 Neighboring gene acidic 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 Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (7)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC7221, MGC36389, 6530402N02Rik

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endopeptidase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables endopeptidase activator activity ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables peptidase activity ISA
Inferred from Sequence Alignment
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within Notch receptor processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in Notch receptor processing ISO
Inferred from Sequence Orthology
more info
 
involved_in Notch receptor processing NAS
Non-traceable Author Statement
more info
PubMed 
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid precursor protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in amyloid precursor protein metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in amyloid-beta formation ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane protein ectodomain proteolysis ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane protein intracellular domain proteolysis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within metanephros development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within protein processing ISA
Inferred from Sequence Alignment
more info
PubMed 
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
part_of gamma-secretase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of gamma-secretase complex ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISA
Inferred from Sequence Alignment
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in presynaptic membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic membrane ISO
Inferred from Sequence Orthology
more info
 
located_in 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)

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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/TrEMBL
    Q3U886, Q6GTF1
    Related
    ENSMUSP00000015894.6, ENSMUST00000015894.12
    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, Q8R1T3, Q91VL5
    UniProtKB/TrEMBL
    Q3U886
    Related
    ENSMUSP00000058846.9, ENSMUST00000056710.10
    Conserved Domains (1) summary
    pfam06105
    Location:3233
    Aph-1; Aph-1 protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    95801233..95805904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)