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Ap2s1
Gene Detail
Symbol

Name
ID
Ap2s1
adaptor-related protein complex 2, sigma 1 subunit
MGI:2141861
Synonyms
MGC:62945
Feature Type
protein coding gene
Genetic Map
Chromosome 7
9.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr7:16738410-16749294 bp, + strand
From VEGA annotation of GRCm38

  10885 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3001  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: AP2S1
Protein SuperFamily: adaptor protein complex, sigma subunit
Gene Tree: Ap2s1

Human
homologs
AP2S1, adaptor-related protein complex 2, sigma 1 subunit
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1175
neXtProt AC: NX_P53680

Human Synonyms: AP17, CLAPS2, FBH3, FBHOk, HHC3

Human Chr (Location): 19q13.32; chr19:46838158-46850995 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human AP2S1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(5) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Ap2s1 interacts with 49 markers (Mir27a, Mir27b, Mir34a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process endocytosis, intracellular protein transport, ...
Component AP-2 adaptor complex, coated pit, ...
Function protein transporter activity
External Resources: FuncBase
Expression
cDNA source data(130)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ap2s1    NEW 
Molecular
reagents
All nucleic(130) cDNA(130)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022892 (Evidence)
Ensembl Gene Model ENSMUSG00000008036 (Evidence)
Entrez Gene 232910 (Evidence)
UniGene 333597
DFCI TC1631279, TC1605080, TC1605751, TC1577720
DoTS DT.101272544, DT.101720278, DT.536664
NIA Mouse Gene Index U007716
PDB 4UQI, 2JKR, 2VGL, 2JKT, 2XA7
Consensus CDS Project CCDS52042.1
International Mouse Phenotyping Consortium Status Ap2s1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022892 VEGA Gene Model | MGI Sequence Detail 10885 C57BL/6J ±  kb
transcript OTTMUST00000054420 VEGA | MGI Sequence Detail 832 Not Applicable 
polypeptide OTTMUSP00000025971 VEGA | MGI Sequence Detail 142 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(123 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016635 Adaptor protein complex, sigma subunit
InterPro IPR027156 AP-2 complex subunit sigma
InterPro IPR022775 AP complex, mu/sigma subunit
InterPro IPR000804 Clathrin adaptor complex, small chain
InterPro IPR011012 Longin-like domain
Protein Ontology PR:000004103 AP-2 complex subunit sigma
References
(Earliest) J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
(Latest) J:198657 Duncker SV, et al., Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells. J Neurosci. 2013 May 29;33(22):9508-19
All references(30)

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
05/20/2015
MGI 5.22
The Jackson Laboratory