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AP2S1

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Protein-coding gene in the species Homo sapiens
AP2S1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2JKR, 2JKT, 2VGL, 2XA7, 4UQI, 4NEE

Identifiers
AliasesAP2S1, AP17, CLAPS2, FBH3, FBHOk, HHC3, adaptor related protein complex 2 sigma 1 subunit, adaptor related protein complex 2 subunit sigma 1
External IDsOMIM: 602242; MGI: 2141861; HomoloGene: 3001; GeneCards: AP2S1; OMA:AP2S1 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)
Chromosome 19 (human)Genomic location for AP2S1Genomic location for AP2S1
Band19q13.32Start46,838,136 bp
End46,850,846 bp
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)
Chromosome 7 (mouse)Genomic location for AP2S1Genomic location for AP2S1
Band7|7 A2Start16,472,335 bp
End16,483,219 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • right adrenal gland

  • right frontal lobe

  • mucosa of transverse colon

  • human penis

  • right adrenal cortex

  • left adrenal gland

  • left adrenal cortex

  • prefrontal cortex

  • cingulate gyrus
Top expressed in
  • dentate gyrus of hippocampal formation granule cell

  • primary visual cortex

  • superior frontal gyrus

  • granulocyte

  • facial motor nucleus

  • neural tube

  • ventricular zone

  • yolk sac

  • lip

  • stroma of bone marrow
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1175

232910

Ensembl

ENSG00000042753

ENSMUSG00000008036

UniProt

P53680

P62743

RefSeq (mRNA)

NM_001301076
NM_001301078
NM_001301081
NM_004069
NM_021575

NM_198613

RefSeq (protein)

NP_001288005
NP_001288007
NP_001288010
NP_004060
NP_067586

NP_941015

Location (UCSC)Chr 19: 46.84 – 46.85 MbChr 7: 16.47 – 16.48 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

AP-2 complex subunit sigma is a protein that in humans is encoded by the AP2S1 gene.

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000042753Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000008036Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Winterpacht A, Endele S, Enklaar T, Fuhry M, Zabel B (Mar 1997). "Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2→q13.3". Cytogenet Cell Genet. 75 (2–3): 132–5. doi:10.1159/000134463. PMID 9040778.
  6. Holzmann K, Poltl A, Sauermann G (Nov 1998). "A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17". Gene. 220 (1–2): 39–44. doi:10.1016/S0378-1119(98)00406-5. PMID 9767099.
  7. ^ "Entrez Gene: AP2S1 adaptor-related protein complex 2, sigma 1 subunit".

Further reading

PDB gallery
  • 1gw5: 1gw5:

External links


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