SERPINC1

SERPINC1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	4EB1, 1ANT, 1ATH, 1AZX, 1BR8, 1DZG, 1DZH, 1E03, 1E04, 1E05, 1JVQ, 1LK6, 1NQ9, 1OYH, 1R1L, 1SR5, 1T1F, 1TB6, 2ANT, 2B4X, 2B5T, 2BEH, 2GD4, 2HIJ, 2ZNH, 3EVJ, 3KCG
Dynodwyr
Cyfenwau	SERPINC1, AT3, AT3D, ATIII, THPH7, serpin family C member 1, ATIII-R2, ATIII-T2, ATIII-T1
Dynodwyr allanol	OMIM: 107300 HomoloGene: 20139 GeneCards: SERPINC1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• peptidase inhibitor activity; • protease binding; • heparin binding; • GO:0001948, GO:0016582 protein binding; • serine-type endopeptidase inhibitor activity; • identical protein binding;
Cydrannau o'r gell	• extracellular region; • Cellbilen; • blood microparticle; • extracellular exosome; • extracellular space; • endoplasmic reticulum lumen; • collagen-containing extracellular matrix;
Prosesau biolegol	• hemostasis; • negative regulation of peptidase activity; • blood coagulation; • regulation of blood coagulation, intrinsic pathway; • response to nutrient; • negative regulation of endopeptidase activity; • lactation; • acute inflammatory response to antigenic stimulus; • regulation of blood coagulation; • post-translational protein modification;
	Sources:Amigo / QuickGO
Orthologau
	462
	n/a
	ENSG00000117601
	n/a
	P01008
	n/a
	NM_000488; NM_001365052
	n/a
	NP_000479; NP_001351981
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SERPINC1 yw SERPINC1 a elwir hefyd yn Serpin family C member 1 (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 1, band 1q25.1.^[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 SERPINC1.

AT3
AT3D
ATIII
THPH7

Llyfryddiaeth

"SerpinC1/Antithrombin III in kidney-related diseases. ". Clin Sci (Lond). 2017. PMID 28424376.
"Women with homozygous AT deficiency type II heparin-binding site (HBS) are at high risk of pregnancy loss and pregnancy complications. ". Ann Hematol. 2017. PMID 28361296.
"SERPINC1 gene mutations in antithrombin deficiency. ". Br J Haematol. 2017. PMID 28317092.
"Cellular folding pathway of a metastable serpin. ". Proc Natl Acad Sci U S A. 2016. PMID 27222580.
"Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.". J Thromb Haemost. 2016. PMID 27214821.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] SERPINC1 - Cronfa NCBI

[1]

[2]