AP1S1

4P6Z, 1W63

AP1S1
AP1S1
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauAP1S1, AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A, WUGSC:H_DJ0747G18.2, adaptor related protein complex 1 sigma 1 subunit, adaptor related protein complex 1 subunit sigma 1
Dynodwyr allanolOMIM: 603531 HomoloGene: 20342 GeneCards: AP1S1
Patrwm RNA pattern




Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

1174

n/a

Ensembl

ENSG00000106367

n/a

UniProt

P61966

n/a

RefSeq (mRNA)

NM_057089
NM_001283

n/a

RefSeq (protein)

NP_001274

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn AP1S1 yw AP1S1 a elwir hefyd yn Adaptor related protein complex 1 sigma 1 subunit (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 7, band 7q22.1.[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn AP1S1.

  • AP19
  • EKV3
  • CLAPS1
  • MEDNIK
  • SIGMA1A

Llyfryddiaeth

  • "MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. ". Brain. 2013. PMID 23423674.
  • "An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. ". Hum Genet. 2005. PMID 15668823.
  • "Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. ". PLoS Genet. 2008. PMID 19057675.
  • "Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network. ". Science. 2002. PMID 12215646.
  • "An ear-core interaction regulates the recruitment of the AP-3 complex to membranes.". Dev Cell. 2004. PMID 15469849.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ AP1S1 - Cronfa NCBI

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