Aph1c aph1 homolog C, gamma secretase subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aph1cprovided by MGI
Official Full Name: aph1 homolog C, gamma secretase subunitprovided by MGI
Primary source: MGI:MGI:1915568
See related: Ensembl:ENSMUSG00000053040 AllianceGenome:MGI:1915568
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable endopeptidase activator activity and protein-macromolecule adaptor activity. Acts upstream of or within several processes, including chemical synaptic transmission; prepulse inhibition; and short-term memory. Part of gamma-secretase complex. Is expressed in brain and genitourinary system. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human APH1B (aph-1 homolog B, gamma-secretase subunit). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 4.8), frontal lobe adult (RPKM 1.7) and 25 other tissues See more
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Genomic context

Location:: 9 C; 9 36.15 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (66722276..66741953, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (66814991..66834706, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We propose a model that identifies critical TMDs of Aph-1 for associations with Nct and PS for the stepwise assembly of gamma-secretase components.
Title: Specific domains in anterior pharynx-defective 1 determine its intramembrane interactions with nicastrin and presenilin.
Loss of Aph1C is associated with memory deficit.
Title: Deletion of the γ-secretase subunits Aph1B/C impairs memory and worsens the deficits of knock-in mice modeling the Alzheimer-like familial Danish dementia.
the Aph1B/C-gamma-secretase complex is expressed in brain areas relevant to schizophrenia pathogenesis and that Aph1B/C deficiency causes pharmacological and behavioral abnormalities that can be reversed by antipsychotic drugs
Title: Deficiency of Aph1B/C-gamma-secretase disturbs Nrg1 cleavage and sensorimotor gating that can be reversed with antipsychotic treatment.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (6) 1 citation

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
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
involved_in Notch receptor processing	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in 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-beta formation	ISO Inferred from Sequence Orthology more info
involved_in locomotory behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within membrane protein ectodomain proteolysis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endopeptidase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within prepulse inhibition	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein processing	IGI Inferred from Genetic Interaction more info	PubMed
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
acts_upstream_of_or_within short-term memory	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within synaptic transmission, dopaminergic	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within synaptic transmission, glutamatergic	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	IDA Inferred from Direct Assay more info	PubMed
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 plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in transport vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: putative gamma-secretase subunit APH-1C

Names: anterior pharynx defective 1b; anterior pharynx defective 1c homolog

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.