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Aph1a Gene Detail
Summary
  • Symbol
    Aph1a
  • Name
    aph1 homolog A, gamma secretase subunit
  • Synonyms
    6530402N02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385110
    NCBI Gene: 226548
Location & Maps
more
  • Sequence Map
    Chr3:95893969-95898288 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4320 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 41.47 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    APH1A, aph-1 homolog A, gamma-secretase subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    APH1A, aph-1 homolog A, gamma-secretase subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    6530402N02Rik, APH-1, APH-1A, CGI-78
  • Links
    NCBI Gene ID: 51107
    neXtProt AC: NX_Q96BI3

  • Chr Location
    1p36.13-q31.3; chr1:150265399-150269209 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    8
  • Genomic Mutations
    2 involving Aph1a
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000053041 VEGA Gene Model | MGI Sequence Detail 4320 C57BL/6J ±  kb
transcript OTTMUST00000132694 VEGA | MGI Sequence Detail 1601 Not Applicable  
polypeptide OTTMUSP00000070720 VEGA | MGI Sequence Detail 265 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    5 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000004129 gamma-secretase subunit APH-1A
  • InterPro Domains
    IPR009294 Gamma-secretase subunit Aph-1
Molecular
Reagents
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  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGI:1923476
References
more
  • Summaries
    All 38
    Developmental Gene Expression 3
    Gene Ontology 8
    Phenotypes 11
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory