About   Help   FAQ
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
    gene 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
    18
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 MGP_129S1SvImJ_G0034979
 protein coding gene Chr9:66635606-66662079 (-)
A/J MGP_AJ_G0034959
 protein coding gene Chr9:64331102-64354004 (-)
AKR/J MGP_AKRJ_G0034889
 protein coding gene Chr9:65866708-65888494 (-)
BALB/cJ MGP_BALBcJ_G0034952
 protein coding gene Chr9:64062067-64088131 (-)
C3H/HeJ MGP_C3HHeJ_G0034661
 protein coding gene Chr9:66399652-66424028 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035471
 protein coding gene Chr9:68460417-68489285 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032382
 protein coding gene Chr9:63976459-63995188 (-)
CAST/EiJ MGP_CASTEiJ_G0033983
 protein coding gene Chr9:66631078-66651156 (-)
CBA/J MGP_CBAJ_G0034633
 protein coding gene Chr9:70809852-70831586 (-)
DBA/2J MGP_DBA2J_G0034792
 protein coding gene Chr9:64102296-64126413 (-)
FVB/NJ MGP_FVBNJ_G0034734
 protein coding gene Chr9:63448502-63469877 (-)
LP/J MGP_LPJ_G0034875
 protein coding gene Chr9:66920657-66940937 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034776
 protein coding gene Chr9:72032995-72060562 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035493
 protein coding gene Chr9:65984800-66005624 (-)
PWK/PhJ MGP_PWKPhJ_G0033687
 protein coding gene Chr9:64319989-64345711 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033521
 protein coding gene Chr9:66292659-66322095 (-)
WSB/EiJ MGP_WSBEiJ_G0034096
 protein coding gene Chr9:65876836-65898610 (-)



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
    1 phenotype from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    12 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
less
  • All GO Annotations
    35
  • 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
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
    788
  • Tissues
    12
  • cDNA Data
    54
  • Literature Summary
    5
Sequences &
Gene Models
less
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 48
    Developmental Gene Expression 5
    Gene Ontology 12
    Phenotypes 12
  • 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:342797 Ma T, et al., Low-dose metformin targets the lysosomal AMPK pathway through PEN2. Nature. 2022 Mar;603(7899):159-165
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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory