COL4A1

Protein sy'n cael ei godio yn y corff dynol gan y genyn COL4A1 yw COL4A1 a elwir hefyd yn Collagen type IV 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 13, band 13q34.

COL4A1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1LI1
Dynodwyr
Cyfenwau	COL4A1, HANAC, ICH, POREN1, arresten, BSVD, RATOR, collagen type IV alpha 1, collagen type IV alpha 1 chain, BSVD1, PADMAL, COL4A1s
Dynodwyr allanol	OMIM: 120130 HomoloGene: 20437 GeneCards: COL4A1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • extracellular matrix constituent conferring elasticity • extracellular matrix structural constituent • GO:0001948, GO:0016582 protein binding • platelet-derived growth factor binding • extracellular matrix structural constituent conferring tensile strength Cydrannau o'r gell • collagen • endoplasmic reticulum lumen • GO:0005578 extracellular matrix • collagen type IV trimer • extracellular region • basement membrane • extracellular space • collagen-containing extracellular matrix Prosesau biolegol • renal tubule morphogenesis • epithelial cell differentiation • blood vessel morphogenesis • extracellular matrix organization • brain development • neuromuscular junction development • angiogenesis • retinal blood vessel morphogenesis • basement membrane organization • branching involved in blood vessel morphogenesis • collagen catabolic process • cellular response to amino acid stimulus • collagen-activated tyrosine kinase receptor signaling pathway Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1282	n/a
Ensembl	ENSG00000187498	n/a
UniProt	P02462	n/a
RefSeq (mRNA)	NM_001845 NM_001303110	n/a
RefSeq (protein)	NP_001290039 NP_001836	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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 COL4A1.

• BSVD
• RATOR

Llyfryddiaeth

• "Building collagen IV smart scaffolds on the outside of cells. ". Protein Sci. 2017. PMID 28845540.
• "A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. ". Eur J Med Genet. 2017. PMID 28017902.
• "Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy. ". Ann Neurol. 2016. PMID 27666438.
• "A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. ". Nephrol Dial Transplant. 2016. PMID 27190376.
• "Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.". Birth Defects Res A Clin Mol Teratol. 2016. PMID 26879631.