COL1A1

COL1A1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3GXE, 1Q7D, 2LLP, 3EJH
Dynodwyr
Cyfenwau	COL1A1, EDSC, OI1, OI2, OI3, OI4, collagen type I alpha 1, collagen type I alpha 1 chain, EDSARTH1, CAFYD
Dynodwyr allanol	OMIM: 120150 HomoloGene: 73874 GeneCards: COL1A1
Patrwm RNA pattern
	; ; ; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• metal ion binding; • identical protein binding; • platelet-derived growth factor binding; • extracellular matrix structural constituent; • GO:0001948, GO:0016582 protein binding; • protease binding; • extracellular matrix structural constituent conferring tensile strength;
Cydrannau o'r gell	• endoplasmic reticulum lumen; • cytoplasm; • Golgi apparatus; • Reticwlwm endoplasmig; • collagen; • secretory granule; • GO:0005578 extracellular matrix; • extracellular space; • collagen type I trimer; • extracellular region; • collagen-containing extracellular matrix;
Prosesau biolegol	• cellular response to tumor necrosis factor; • blood coagulation; • tooth eruption; • response to mechanical stimulus; • response to corticosteroid; • negative regulation of cell-substrate adhesion; • response to steroid hormone; • extracellular matrix organization; • osteoblast differentiation; • collagen fibril organization; • skin morphogenesis; • bone trabecula formation; • wound healing; • skin development; • intramembranous ossification; • positive regulation of cell migration; • tooth mineralization; • cellular response to epidermal growth factor stimulus; • cellular response to fibroblast growth factor stimulus; • response to estradiol; • collagen catabolic process; • response to cAMP; • cellular response to vitamin E; • response to fluoride; • cartilage development involved in endochondral bone morphogenesis; • Q14865145; • response to peptide hormone; • cellular response to retinoic acid; • cellular response to transforming growth factor beta stimulus; • regulation of immune response; • cellular response to fluoride; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • leukocyte migration; • collagen biosynthetic process; • protein heterotrimerization; • cellular response to amino acid stimulus; • endochondral ossification; • response to hyperoxia; • face morphogenesis; • protein transport; • response to nutrient; • platelet activation; • golwg; • positive regulation of epithelial to mesenchymal transition; • response to hydrogen peroxide; • embryonic skeletal system development; • skeletal system morphogenesis; • ossification; • response to nutrient levels; • positive regulation of canonical Wnt signaling pathway; • protein localization to nucleus; • cellular response to mechanical stimulus; • skeletal system development; • blood vessel development; • collagen-activated tyrosine kinase receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologau
	1277
	n/a
	ENSG00000108821
	n/a
	P02452
	n/a
	NM_000088
	n/a
	NP_000079
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn COL1A1 yw COL1A1 a elwir hefyd yn Collagen alpha-1(I) chain a Collagen type I alpha 1 chain (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 17, band 17q21.33.^[2]

Cyfystyron[golygu | golygu cod]

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 COL1A1.

OI1
OI2
OI3
OI4
EDSC
EDSARTH1

Llyfryddiaeth[golygu | golygu cod]

"COPII-coated membranes function as transport carriers of intracellular procollagen I. ". J Cell Biol. 2017. PMID 28428367.
"Circular RNA profiling reveals that circCOL3A1-859267 regulate type I collagen expression in photoaged human dermal fibroblasts. ". Biochem Biophys Res Commun. 2017. PMID 28286269.
"Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. ". Am J Med Genet A. 2017. PMID 28102596.
"A COL11A1-correlated pan-cancer gene signature of activated fibroblasts for the prioritization of therapeutic targets. ". Cancer Lett. 2016. PMID 27609069.
"Collagen analysis of the ascending aortic dilatation associated with bicuspid aortic valve disease compared with tricuspid aortic valve.". Arch Physiol Biochem. 2016. PMID 27595307.

Cyfeiriadau[golygu | golygu cod]

[1] "Human PubMed Reference:".

[2] COL1A1 - Cronfa NCBI

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