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Protein Coding Gene : Aph1a aph1 homolog A, gamma secretase subunit

Primary Identifier  MGI:2385110 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  226548
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables endopeptidase activator activity and enzyme binding activity. Acts upstream of or within Notch receptor processing and metanephros development. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and synaptic membrane. Predicted to be part of gamma-secretase complex. Predicted to be active in endoplasmic reticulum and presynaptic membrane. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system; and retina. Orthologous to human APH1A (aph-1 homolog A, gamma-secretase subunit).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • 6530402N02Rik,
  • aph1 homolog A, gamma secretase subunit,
  • Aph1a,
  • RIKEN cDNA 6530402N02 gene,
  • MGI:1923476

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

18 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For