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Aph1b Gene Detail
Summary
  • Symbol
    Aph1b
  • Name
    aph1 homolog B, gamma secretase subunit
  • Synonyms
    2310057K14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:3522097
    NCBI Gene: 208117
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:66682484-66702772 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 36.12 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    775 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3522097
 protein coding gene Chr9:66682484-66704671 (-)
129S1/SvImJ ENSMUSG00200043199
 protein coding gene Chr9:63780827-63801208 (-)
A/J ENSMUSG00195025108
 protein coding gene Chr9:63501663-63521991 (-)
AKR/J ENSMUSG00220040152
 protein coding gene Chr9:63639701-63660028 (-)
BALB/cJ ENSMUSG00180015528
 protein coding gene Chr9:63621198-63641528 (-)
C3H/HeJ ENSMUSG00175011907
 protein coding gene Chr9:63634903-63655228 (-)
C57BL/6NJ ENSMUSG00215025671
 protein coding gene Chr9:63624776-63645121 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032382
 protein coding gene Chr9:63976459-63995188 (-)
CAST/EiJ ENSTCUG00005027276
 protein coding gene Chr9:63533046-63553684 (-)
CBA/J ENSMUSG00210014070
 protein coding gene Chr9:63721958-63742302 (-)
DBA/2J ENSMUSG00185032864
 protein coding gene Chr9:63746863-63767199 (-)
FVB/NJ ENSMUSG00205031077
 protein coding gene Chr9:64065409-64085851 (-)
JF1/MsJ ENSUMUG00000014821
 protein coding gene Chr9:63821945-63842418 (-)
LP/J ENSMUSG00230022577
 protein coding gene Chr9:63979732-64000106 (-)
NOD/ShiLtJ ENSMUSG00190021465
 protein coding gene Chr9:63846993-63867328 (-)
NZO/HlLtJ ENSMUSG00225045802
 protein coding gene Chr9:64046485-64066826 (-)
PWK/PhJ ENSLUMG00010025885
 protein coding gene Chr9:63774945-63795472 (-)
SPRET/EiJ ENSMSPG00010017030
 protein coding gene Chr9:64844877-64861498 (-)
WSB/EiJ ENSIUOG00005023267
 protein coding gene Chr9:63235544-63255890 (-)



Homology
more
  • Human Ortholog
    APH1B, aph-1B gamma-secretase subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APH1B, aph-1B gamma-secretase subunit
  • Synonyms
    APH-1B, aph-1beta, PRO1328, PSFL, TAAV688
  • Links
    NCBI Gene ID: 83464
    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
    1 phenotype from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    13 phenotype references
Homozygous null mice are viable and fertile and do not show any significant aberrations in the brain, kidney, or testis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    36
  • GO References
    12
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
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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
    679
  • Tissues
    12
  • cDNA Data
    54
  • Literature Summary
    5
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032375 Ensembl Gene Model | MGI Sequence Detail 20289 C57BL/6J ±  kb
transcript ENSMUST00000034934 Ensembl | MGI Sequence Detail 4910 Not Applicable  
polypeptide ENSMUSP00000034934 Ensembl | MGI Sequence Detail 257 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • InterPro Domains
    IPR009294 Gamma-secretase subunit Aph-1
Molecular
Reagents
less
  • All nucleic 55
    cDNA 54
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1916945
References
more
  • Summaries
    All 53
    Developmental Gene Expression 5
    Gene Ontology 12
    Phenotypes 13
  • Earliest
    J:54336 De Strooper B, et al., A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain [see comments]. Nature. 1999 Apr 8;398(6727):518-22
  • Latest
    J:372992 Hou P, et al., The gamma-secretase substrate proteome and its role in cell signaling regulation. Mol Cell. 2023 Nov 16;83(22):4106-4122.e10
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
09/01/2026
MGI 6.24 		The Jackson Laboratory