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Aph1c Gene Detail
Summary
  • Symbol
    Aph1c
  • Name
    aph1 homolog C, gamma secretase subunit
  • Synonyms
    0610008A10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915568
    NCBI Gene: 68318
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:66722276-66741953 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 36.15 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    610 from dbSNP Build 142
  • Strain Annotations
    16
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915568
 protein coding gene Chr9:66722276-66742008 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034981
 protein coding gene Chr9:66683514-66714356 (-)
A/J MGP_AJ_G0034961
 protein coding gene Chr9:64375282-64398861 (-)
AKR/J MGP_AKRJ_G0034891
 protein coding gene Chr9:65908692-65933416 (-)
BALB/cJ MGP_BALBcJ_G0034954
 protein coding gene Chr9:64108194-64131694 (-)
C3H/HeJ MGP_C3HHeJ_G0034663
 protein coding gene Chr9:66444424-66469050 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035473
 protein coding gene Chr9:68509039-68533313 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032384
 protein coding gene Chr9:64014157-64033839 (-)
CAST/EiJ MGP_CASTEiJ_G0033985
 protein coding gene Chr9:66689240-66696853 (-)
CBA/J MGP_CBAJ_G0034635
 protein coding gene Chr9:70852605-70878857 (-)
DBA/2J MGP_DBA2J_G0034793
 protein coding gene Chr9:64106290-64170447 (-)
FVB/NJ MGP_FVBNJ_G0034736
 protein coding gene Chr9:63490781-63511888 (-)
LP/J no annotation
NOD/ShiLtJ MGP_NODShiLtJ_G0034778
 protein coding gene Chr9:72081166-72106461 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035495
 protein coding gene Chr9:66027191-66049495 (-)
PWK/PhJ MGP_PWKPhJ_G0033689
 protein coding gene Chr9:64365933-64397898 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033522
 protein coding gene Chr9:66343490-66364060 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    APH1B, aph-1 homolog B, gamma-secretase subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APH1B, aph-1 homolog B, gamma-secretase subunit
  • Synonyms
    APH-1B, aph-1beta, PRO1328, PSFL, TAAV688
  • Links
    NCBI Gene ID: 83464
    neXtProt AC: NX_Q8WW43
    UniProt: Q8WW43

  • Chr Location
    15q22.2; chr15:63276018-63309126 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human APH1B associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    20 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.
Homozygous null mice are viable and fertile and do not show any significant aberrations in the brain, kidney, or testis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    729
  • Tissues
    12
  • cDNA Data
    14
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 68318 NCBI Gene Model | MGI Sequence Detail 19678 C57BL/6J ±  kb
transcript NM_001410494 RefSeq | MGI Sequence Detail 5607 C57BL/6  
polypeptide Q9DCZ9 UniProt | EBI | MGI Sequence Detail 258 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 14

    Microarray probesets 2
References
more
  • Summaries
    All 46
    Developmental Gene Expression 2
    Gene Ontology 10
    Phenotypes 20
  • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory