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Aph1a
Gene Detail
Symbol

Name
ID
Aph1a
anterior pharynx defective 1a homolog (C. elegans)
MGI:2385110
Synonyms
6530402N02Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 3
41.47 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr3:95893969-95898288 bp, + strand
From Ensembl annotation of GRCm38

  4320 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9345  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: gamma-secretase, APH1 subunit
Gene Tree: Aph1a

Human
homologs
Human Homolog APH1A, APH1A gamma secretase subunit
NCBI Gene ID 51107
neXtProt AC  NX_Q96BI3
Human Synonyms  6530402N02Rik, APH-1, APH-1A, CGI-78
Human Chr (Location)  1p36.13-q31.3; chr1:150265399-150269209 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(2) Targeted(7)
 
Homozygous null embryos die by E11, are severely growth retarded by E9.5 and display defects in somite patterning, branchial arch and heart chamber development, vascular morphogenesis of the yolk sac and have distended pericardial sacs.
 
Phenotype Images(2)
Interactions
Aph1a interacts with 228 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process amyloid precursor protein catabolic process, membrane protein ectodomain proteolysis, ...
Component endoplasmic reticulum, Golgi apparatus, ...
Function endopeptidase activity, peptidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (67)    Tissues (43)    Images (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 64
RT-PCR 3
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000015750 (Evidence)
Entrez Gene226548 (Evidence)
DFCITC1589701, TC1572071
Consensus CDS ProjectCCDS17624.1, CCDS50999.1
International Mouse Knockout Project StatusAph1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000015750 Ensembl Gene Model | MGI Sequence Detail 4320 C57BL/6J ±  kb
transcript ENSMUST00000056710 Ensembl | MGI Sequence Detail 1000 Not Applicable 
polypeptide ENSMUSP00000058846 Ensembl | MGI Sequence Detail 265 Not Applicable 

For the selected sequences
All sequences(52) RefSeq(6) UniProt(5)
Polymorphisms
SNPs within 2kb(5 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009294 Gamma-secretase subunit Aph-1
Protein Ontology PR:000004129 gamma-secretase subunit APH-1A
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:177000 Barthet G, et al., Inhibitors of gamma-secretase stabilize the complex and differentially affect processing of amyloid precursor protein and other substrates. FASEB J. 2011 Sep;25(9):2937-46
All references(38)
Other
accession IDs
MGI:1923476

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
11/18/2014
MGI 5.20
The Jackson Laboratory