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
	1175
	n/a
	ENSG00000042753
	n/a
	P53680
	n/a
	NM_001301076; NM_001301078; NM_001301081; NM_004069; NM_021575
	n/a
	NP_001288005; NP_001288007; NP_001288010; NP_004060; NP_067586
	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.^[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 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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] AP2S1 - Cronfa NCBI

[1]

[2]