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Aph1b aph1 homolog B, gamma secretase subunit [ Mus musculus (house mouse) ]

Gene ID: 208117, updated on 2-May-2024

Summary

Official Symbol
Aph1bprovided by MGI
Official Full Name
aph1 homolog B, gamma secretase subunitprovided by MGI
Primary source
MGI:MGI:3522097
See related
Ensembl:ENSMUSG00000032375 AllianceGenome:MGI:3522097
Gene type
protein coding
RefSeq status
PROVISIONAL
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-1b; aph-1beta
Summary
Predicted to enable endopeptidase activator activity and protein-macromolecule adaptor activity. Acts upstream of or within several processes, including amyloid-beta formation; chemical synaptic transmission; and prepulse inhibition. Part of gamma-secretase complex. Is expressed in several structures, including nervous 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 CNS E18 (RPKM 5.1), whole brain E14.5 (RPKM 4.7) and 28 other tissues See more
Orthologs
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Genomic context

See Aph1b in Genome Data Viewer
Location:
9 C; 9 36.12 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (66682484..66704671, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (66775202..66797345, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene F-box and leucine-rich repeat protein 22 Neighboring gene ubiquitin specific peptidase 3 Neighboring gene STARR-positive B cell enhancer mm9_chr9:66440763-66441064 Neighboring gene STARR-positive B cell enhancer mm9_chr9:66444915-66445215 Neighboring gene STARR-positive B cell enhancer ABC_E2900 Neighboring gene STARR-seq mESC enhancer starr_24480 Neighboring gene STARR-positive B cell enhancer ABC_E11413 Neighboring gene carbonic anhydrase 12 Neighboring gene STARR-positive B cell enhancer ABC_E8296 Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 2, pseudogene 4 Neighboring gene cDNA sequence BC050972

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 (1) 
  • Targeted (1)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • 2310057K14Rik

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 receptor processing NAS
Non-traceable Author Statement
more info
PubMed 
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
 
acts_upstream_of_or_within amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
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 
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
 
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
located_in Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum 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 IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-secretase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
part_of gamma-secretase complex ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
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
gamma-secretase subunit APH-1B
Names
APH1B homolog
anterior pharynx defective 1b homolog
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.

mRNA and Protein(s)

  1. NM_177583.4NP_808251.1  gamma-secretase subunit APH-1B

    See identical proteins and their annotated locations for NP_808251.1

    Status: PROVISIONAL

    Source sequence(s)
    AC134429, AC142504
    Consensus CDS
    CCDS23307.1
    UniProtKB/Swiss-Prot
    Q3U3B5, Q8C7N7, Q8CEC9
    UniProtKB/TrEMBL
    F8WHK7
    Related
    ENSMUSP00000034934.9, ENSMUST00000034934.15
    Conserved Domains (1) summary
    pfam06105
    Location:2232
    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
    66682484..66704671 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510922.5XP_006510985.1  gamma-secretase subunit APH-1B isoform X1

    Conserved Domains (1) summary
    pfam06105
    Location:3279
    Aph-1; Aph-1 protein