AP2S1

AP2S1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2JKR, 2JKT, 2VGL, 2XA7, 4UQI, 4NEE
Dynodwyr
Cyfenwau	AP2S1, AP17, CLAPS2, FBH3, FBHOk, HHC3, adaptor related protein complex 2 sigma 1 subunit, adaptor related protein complex 2 subunit sigma 1
Dynodwyr allanol	OMIM: 602242 HomoloGene: 3001 GeneCards: AP2S1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transporter activity • clathrin adaptor activity • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • endocytic vesicle membrane • cytosol • clathrin-coated endocytic vesicle membrane • bilen • Cellbilen • endolysosome membrane • membrane coat • clathrin-coated pit • AP-2 adaptor complex • clathrin-coated endocytic vesicle • intracellular membrane-bounded organelle Prosesau biolegol • regulation of endocytosis • endocytosis • antigen processing and presentation of exogenous peptide antigen via MHC class II • ephrin receptor signaling pathway • GO:0019049, GO:0030683 mitigation of host defenses by virus • clathrin-dependent endocytosis • clathrin coat assembly • protein transport • intracellular protein transport • vesicle-mediated transport • microtubule-based movement • Wnt signaling pathway, planar cell polarity pathway • membrane organization • low-density lipoprotein particle receptor catabolic process • low-density lipoprotein particle clearance • GO:0015915 transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1175	n/a
Ensembl	ENSG00000042753	n/a
UniProt	P53680	n/a
RefSeq (mRNA)	NM_001301076 NM_001301078 NM_001301081 NM_004069 NM_021575	n/a
RefSeq (protein)	NP_001288005 NP_001288007 NP_001288010 NP_004060 NP_067586	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn AP2S1 yw AP2S1 a elwir hefyd yn Adaptor related protein complex 2 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 ôl o gromosom dynol 19, band 19q13.32.

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 AP2S1.

• AP17
• FBH3
• HHC3
• FBHOk
• CLAPS2

Llyfryddiaeth

• "Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. ". Hum Mol Genet. 2015. PMID 26082470.
• "Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. ". J Clin Endocrinol Metab. 2014. PMID 24731014.
• "Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). ". J Clin Endocrinol Metab. 2014. PMID 24708097.
• "Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. ". J Clin Endocrinol Metab. 2014. PMID 24423332.
• "Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.". Nat Genet. 2013. PMID 23222959.