COL3A1

COL3A1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2V53, 3DMW, 4AE2, 4AEJ, 4AK3, 4GYX
Dynodwyr
Cyfenwau	COL3A1, EDS4A, collagen type III alpha 1, collagen type III alpha 1 chain, EDSVASC, PMGEDSV
Dynodwyr allanol	OMIM: 120180 HomoloGene: 55433 GeneCards: COL3A1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • metal ion binding • integrin binding • GO:0001948, GO:0016582 protein binding • platelet-derived growth factor binding • SMAD binding • extracellular matrix structural constituent • protease binding • extracellular matrix structural constituent conferring tensile strength Cydrannau o'r gell • collagen • endoplasmic reticulum lumen • extracellular space • collagen type III trimer • GO:0005578 extracellular matrix • extracellular region • collagen-containing extracellular matrix Prosesau biolegol • positive regulation of Rho protein signal transduction • skeletal system development • negative regulation of neuron migration • response to cytokine • response to mechanical stimulus • GO:0010260 heneiddio • extracellular matrix organization • platelet activation • heart development • GO:0051357, GO:0051358, GO:0051359 peptide cross-linking • negative regulation of immune response • blood vessel development • regulation of immune response • cerebral cortex development • collagen catabolic process • cellular response to amino acid stimulus • integrin-mediated signaling pathway • response to radiation • cell-matrix adhesion • digestive tract development • transforming growth factor beta receptor signaling pathway • aorta smooth muscle tissue morphogenesis • skin development • collagen fibril organization • wound healing • supramolecular fiber organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1281	n/a
Ensembl	ENSG00000168542	n/a
UniProt	P02461	n/a
RefSeq (mRNA)	NM_000090 NM_001376916	n/a
RefSeq (protein)	NP_000081	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 COL3A1 yw COL3A1 a elwir hefyd yn Collagen type III 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 blaen o gromosom dynol 2, band 2q32.2.

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 COL3A1.

• EDS4A
• EDSVASC

Llyfryddiaeth

• "Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. ". Am J Med Genet A. 2017. PMID 28742248.
• "A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. ". Vasc Endovascular Surg. 2017. PMID 28183226.
• "Collagen type III α1 as a useful diagnostic immunohistochemical marker for fibroepithelial lesions of the breast. ". Hum Pathol. 2016. PMID 27498063.
• "Dietary fructose intake in obese children and adolescents: relation to procollagen type III N-terminal peptide (P3NP) and non-alcoholic fatty liver disease. ". J Pediatr Endocrinol Metab. 2016. PMID 27442361.
• "Epithelial but not stromal expression of collagen alpha-1(III) is a diagnostic and prognostic indicator of colorectal carcinoma.". Oncotarget. 2016. PMID 26741506.