U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 68318, updated on 12-May-2024

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 proteolysis. 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, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 4.8), frontal lobe adult (RPKM 1.7) and 25 other tissues See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Aph1c in Genome Data Viewer
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_000075.7Genomic Context describing neighboring genes Neighboring gene cDNA sequence BC050972 Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 2, pseudogene 4 Neighboring gene STARR-positive B cell enhancer ABC_E10560 Neighboring gene STARR-seq mESC enhancer starr_24481 Neighboring gene STARR-positive B cell enhancer ABC_E8297 Neighboring gene RAB8B, member RAS oncogene family Neighboring gene predicted gene, 40528 Neighboring gene STARR-positive B cell enhancer ABC_E5081 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:66767210-66767393 Neighboring gene STARR-positive B cell enhancer ABC_E5082 Neighboring gene STARR-seq mESC enhancer starr_24483 Neighboring gene ribosomal protein S27-like

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

General gene information

Markers

Clone Names

  • 0610008A10Rik

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 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 catalytic activity IEA
Inferred from Electronic Annotation
more info
 
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 transport vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
putative gamma-secretase subunit APH-1C
Names
anterior pharynx defective 1b
anterior pharynx defective 1c homolog

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001410494.1NP_001397423.1  putative gamma-secretase subunit APH-1C isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC142504
    UniProtKB/TrEMBL
    Q4R1J7
    Related
    ENSMUSP00000056476.9, ENSMUST00000057261.9
  2. NM_026674.4NP_080950.1  putative gamma-secretase subunit APH-1C isoform 1

    See identical proteins and their annotated locations for NP_080950.1

    Status: VALIDATED

    Source sequence(s)
    AC142504
    Consensus CDS
    CCDS23308.1
    UniProtKB/Swiss-Prot
    Q3U2R3, Q9DCZ9
    UniProtKB/TrEMBL
    F8WHK7
    Related
    ENSMUSP00000130359.2, ENSMUST00000169282.8
    Conserved Domains (1) summary
    pfam06105
    Location:2233
    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_000075.7 Reference GRCm39 C57BL/6J

    Range
    66722276..66741953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)