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Aph1b Gene Detail
 Symbol
Name
ID
Aph1b
anterior pharynx defective 1b homolog (C. elegans)
MGI:3522097


Nomenclature History
Synonyms 2310057K14Rik
Genetic Map
Chromosome 9
cytoband D
 
Mapping data( 2)
Sequence Map
Chr9:66623828-66643297 bp, - strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Protein SuperFamily: gamma-secretase, APH1 subunit
TreeFam: TF314362
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000032375 Ensembl Gene Model | MGI Sequence Detail 19470 C57BL/6J ± Kb
transcript NM_177583 RefSeq | MGI Sequence Detail 4558 C57BL/6
polypeptide Q8C7N7 UniProt | EBI | MGI Sequence Detail 257 Not Applicable
For the selected sequences
All sequences(15)
Alleles
and
phenotypes
All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
Homozygous null mice are viable and fertile and do not show any significant aberrations in the brain, kidney, or testis.
Polymorphisms SNPs within 2kb(107 from dbSNP Build 128)   SNPs within 2kb including multiple locations(165)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process Notch signaling pathway, positive regulation of catalytic activity...
Component integral to membrane, membrane...
Function endopeptidase activity, protein binding...
External Resources: FuncBase
Expression Literature Summary: (2 records)
Data Summary: Assays (1)    Results (3)    Tissues (1)
Theiler Stages: 15
  Assay Type Assays   Results
      RT-PCR 1   3
cDNA source data(53)
External Resources: Allen Brain Atlas  GEO  ArrayExpress 
Molecular
reagents
All nucleic(54) cDNA(53) Primer pair(1)
Microarray probesets(1)
Other database
links
Ensembl Gene Model ENSMUSG00000032375
DoTS DT.101731770, DT.97412624
Consensus CDS Project CCDS23307.1
UniGene 41291
NIA Mouse Gene Index U031022
Entrez Gene 208117
International Mouse Knockout Project Status Aph1b
Protein
domains
InterPro ID Description
IPR009294 Aph-1
Graphical View of Protein Domain Structure
References
(Earliest) J:65060 Kawai J et al., "Functional annotation of a full-length mouse cDNA collection." Nature 2001 Feb 8;409(6821):685-90
(Latest) J:147990 Serneels L et al., "gamma-Secretase heterogeneity in the Aph1 subunit: relevance for Alzheimer's disease." Science 2009 May 1;324(5927):639-42
All references(10)
Other
accession IDs
MGI:1916945

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/06/2010
MGI_4.32
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The Jackson Laboratory