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Ap1s1 Gene Detail
Summary
  • Symbol
    Ap1s1
  • Name
    adaptor protein complex AP-1, sigma 1
  • Synonyms
    AP19
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098244
    NCBI Gene: 11769
Location & Maps
more
  • Sequence Map
    Chr5:137034993-137046135 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11143 bp   ±  kb flank

  • Genome Browsers
Homology
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  • Human Ortholog
    AP1S1, adaptor related protein complex 1 sigma 1 subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AP1S1, adaptor related protein complex 1 sigma 1 subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A
  • Links
    NCBI Gene ID: 1174
    neXtProt AC: NX_P61966

  • Chr Location
    7q22.1; chr7:101154405-101161276 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human AP1S1 associations

Human Disease Mouse Models
       Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma; MEDNIK   OMIM: 609313
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotype references
  • All Mutations and Alleles
    18
  • Gene trapped
    14
  • Targeted
    4
  • Incidental Mutations
    APF
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023414 VEGA Gene Model | MGI Sequence Detail 11143 C57BL/6J ±  kb
transcript OTTMUST00000056875 VEGA | MGI Sequence Detail 748 Not Applicable  
polypeptide OTTMUSP00000027387 VEGA | MGI Sequence Detail 189 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    38 from dbSNP Build 137
Protein
Information
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  • UniProt
    4 Sequences
  • PDB
  • InterPro Domains
    IPR016635 Adaptor protein complex, sigma subunit
    IPR022775 AP complex, mu/sigma subunit
    IPR000804 Clathrin adaptor complex, small chain
    IPR011012 Longin-like domain
Molecular
Reagents
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  • All nucleic 134
    cDNA 134

    Microarray probesets 3
References
more
  • Summaries
    All 37
    Gene Ontology 8
    Phenotypes 8
  • Earliest
    J:43399 Kirchhausen T, et al., AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. J Biol Chem. 1991 Jun 15;266(17):11153-7
  • Latest
    J:216244 Baltes J, et al., sigma1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue. J Cell Sci. 2014 Aug 15;127(Pt 16):3477-87

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
01/26/2016
MGI 6.02
The Jackson Laboratory