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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
  • Gene Overview
    MyGene.info: AP4S1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:51690928-51738939 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 22.11 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    616 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 Chr12:51690928-51744786 (.)
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
    9
  • Human Ortholog
    AP4S1, adaptor related protein complex 4 subunit sigma 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AP47B, CLA20, CLAPS4, CPSQ6, SPG52
  • Links
    NCBI Gene ID: 11154
    neXtProt AC: NX_Q9Y587
    UniProt: Q9Y587

  • Chr Location
    14q12; chr14:31025106-31096450 (+)  GRCh38.p7

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
    9 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 11782 NCBI Gene Model | MGI Sequence Detail 48012 C57BL/6J ±  kb
transcript NM_001329698 RefSeq | MGI Sequence Detail 1825 C57BL/6  
polypeptide Q9WVL1 UniProt | EBI | 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 35
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 9
  • 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory