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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
    gene 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
    644 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0019726
 protein coding gene Chr12:50497644-50550947 (+)
A/J MGP_AJ_G0019688
 protein coding gene Chr12:48717896-48765499 (+)
AKR/J MGP_AKRJ_G0019659
 protein coding gene Chr12:50177962-50229019 (+)
BALB/cJ MGP_BALBcJ_G0019666
 protein coding gene Chr12:48999481-49048149 (+)
C3H/HeJ MGP_C3HHeJ_G0019469
 protein coding gene Chr12:50283422-50333496 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020114
 protein coding gene Chr12:52065896-52120040 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017737
 protein coding gene Chr12:47104937-47152862 (+)
CAST/EiJ MGP_CASTEiJ_G0019022
 protein coding gene Chr12:45317632-45370407 (+)
CBA/J MGP_CBAJ_G0019441
 protein coding gene Chr12:53844917-53900685 (+)
DBA/2J MGP_DBA2J_G0019555
 protein coding gene Chr12:48578507-48627649 (+)
FVB/NJ MGP_FVBNJ_G0019544
 protein coding gene Chr12:48014251-48062654 (+)
LP/J MGP_LPJ_G0019627
 protein coding gene Chr12:50533441-50584636 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019580
 protein coding gene Chr12:55466101-55538085 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020152
 protein coding gene Chr12:49669691-49720686 (+)
PWK/PhJ MGP_PWKPhJ_G0018789
 protein coding gene Chr12:43150373-43205359 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018583
 protein coding gene Chr12:44262679-44312951 (+)
WSB/EiJ MGP_WSBEiJ_G0019073
 protein coding gene Chr12:50152101-50206352 (+)



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
    neXtProt AC: NX_Q9Y587
    UniProt: Q9Y587

  • Chr Location
    14q12; chr14:31025106-31130996 (+)  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
    11 phenotype references
  • All Mutations and Alleles
    133
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    2
  • Gene trapped
    129
  • Targeted
    1
  • Genomic Mutations
    1 involving Ap4s1
  • Find Mice (IMSR)
    49 strains or lines available
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    5
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
non-membrane-bounded 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
    708
  • Tissues
    2
  • cDNA Data
    32
  • Literature Summary
    2
Sequences &
Gene Models
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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 38
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 11
  • 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:240526 Hall EA, et al., PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. Am J Hum Genet. 2017 May 4;100(5):706-724
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
04/16/2024
MGI 6.23 		The Jackson Laboratory