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

Chr3:95893996-95898303 bp, + strand From NCBI annotation of GRCm38   4308 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 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; chr1:150237799-150241609 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(9) : Targeted(7) Gene trapped(2)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (21 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)
Theiler Stages: 15, 19, 23, 28

Assay Type	Results
RNA in situ	64
RT-PCR	3

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000015750 (Evidence)
Entrez Gene	226548 (Evidence)
DFCI	TC1572071, TC1589701
Consensus CDS Project	CCDS17624.1, CCDS50999.1
International Mouse Knockout Project Status	Aph1a

Sequences

Length	Strain/Species
genomic	226548	NCBI Gene Model | MGI Sequence Detail	4308	C57BL/6J
transcript	NM_146104	RefSeq | MGI Sequence Detail	3215	C57BL/6
polypeptide	Q8BVF7	UniProt | EBI | MGI Sequence Detail	265	Not Applicable

All sequences(48) RefSeq(4) UniProt(3)

Polymorphisms

SNPs within 2kb(5 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR009294	Gamma-secretase subunit Aph-1
Protein Ontology	PR:000004129	gamma-secretase subunit APH-1A

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: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