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Ap4s1 Gene Detail
Summary
  • Symbol
    Ap4s1
  • Name
    adaptor-related protein complex AP-4, sigma 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1337065
    NCBI Gene: 11782
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:51737816-51791569 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 22.11 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1694 from dbSNP Build 142
  • Strain Annotations
    14
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1337065
 protein coding gene Chr12:51708545-51791569 (+)
129S1/SvImJ ENSMUSG00200028516
 protein coding gene Chr12:43697201-43755204 (+)
A/J ENSMUSG00195017677
 protein coding gene Chr12:46267109-46321120 (+)
AKR/J ENSMUSG00220025351
 protein coding gene Chr12:44305498-44359522 (+)
BALB/cJ ENSMUSG00180005888
 protein coding gene Chr12:45258854-45312861 (+)
C3H/HeJ ENSMUSG00175011562
 protein coding gene Chr12:48329473-48383498 (+)
C57BL/6NJ ENSMUSG00215010935
 protein coding gene Chr12:44653437-44707455 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017737
 protein coding gene Chr12:47104937-47152862 (+)
CAST/EiJ no annotation
CBA/J ENSMUSG00210009245
 protein coding gene Chr12:44803856-44857862 (+)
DBA/2J ENSMUSG00185014177
 protein coding gene Chr12:46771260-46825275 (+)
FVB/NJ ENSMUSG00205013524
 protein coding gene Chr12:44594207-44648215 (+)
JF1/MsJ no annotation
LP/J ENSMUSG00230015617
 protein coding gene Chr12:53804603-53862593 (+)
NOD/ShiLtJ ENSMUSG00190016056
 protein coding gene Chr12:43794287-43848298 (+)
NZO/HlLtJ ENSMUSG00225040919
 protein coding gene Chr12:55940449-55994471 (+)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    AP4S1, adaptor related protein complex 4 subunit sigma 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP4S1, adaptor related protein complex 4 subunit sigma 1
  • Synonyms
    AP47B, CLA20, CLAPS4, CPSQ6, SPG52
  • Links
    NCBI Gene ID: 11154
    UniProt: Q9Y587

  • Chr Location
    14q12; chr14:31024996-31130996 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human AP4S1 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
    14 phenotype references
  • All Mutations and Alleles
    130
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    3
  • Gene trapped
    125
  • Targeted
    1
  • Genomic Mutations
    1 involving Ap4s1
  • Find Mice (IMSR)
    50 strains or lines available
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    8
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
    599
  • Tissues
    2
  • cDNA Data
    32
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020955 Ensembl Gene Model | MGI Sequence Detail 53754 C57BL/6J ±  kb
transcript ENSMUST00000021338 Ensembl | MGI Sequence Detail 1035 Not Applicable  
polypeptide ENSMUSP00000021338 Ensembl | MGI Sequence Detail 144 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    cDNA 32

    Microarray probesets 3
Other
Accession IDs
less
MGI:2144780
References
more
  • Summaries
    All 45
    Developmental Gene Expression 2
    Gene Ontology 8
    Phenotypes 14
  • Earliest
    J:48443 Odorizzi G, et al., The AP-3 complex: a coat of many colours. Trends Cell Biol. 1998 Jul;8(7):282-8
  • 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
09/01/2026
MGI 6.24 		The Jackson Laboratory