PRF1

PRF1
Dynodwyr
Cyfenwau	PRF1, FLH2, HPLH2, P1, PFN1, PFP, perforin 1
Dynodwyr allanol	OMIM: 170280 HomoloGene: 3698 GeneCards: PRF1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • metal ion binding • calcium ion binding • wide pore channel activity • identical protein binding Cydrannau o'r gell • integral component of membrane • extracellular region • endosome • Cellbilen • endosome lumen • bilen • cytosol • GO:0016023 cytoplasmic vesicle • cytolytic granule Prosesau biolegol • cellular defense response • immunological synapse formation • cytolysis • GO:0097285 apoptotic process • transmembrane transport • positive regulation of killing of cells of other organism • defense response to tumor cell • immune response to tumor cell • protein homooligomerization • defense response to virus • T cell mediated cytotoxicity Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5551	n/a
Ensembl	ENSG00000180644	n/a
UniProt	P14222	n/a
RefSeq (mRNA)	NM_005041 NM_001083116	n/a
RefSeq (protein)	NP_001076585 NP_005032	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 PRF1 yw PRF1 a elwir hefyd yn Perforin 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 10, band 10q22.1.

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 PRF1.

• P1
• PFP
• HPLH2

Llyfryddiaeth

• "Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease. ". Int J Mol Sci. 2017. PMID 28757574.
• "Reduced PRF1 enhancer methylation in children with a history of severe RSV bronchiolitis in infancy: an association study. ". BMC Pediatr. 2017. PMID 28253869.
• "Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W). ". J Pediatr Hematol Oncol. 2017. PMID 27271812.
• "Expression and Localization of Granzymes and Perforin in Human Calcific Aortic Valve Disease. ". J Heart Valve Dis. 2015. PMID 26897841.
• "Recurrent macrophage activation syndrome in spondyloarthritis and monoallelic missense mutations in PRF1: a description of one paediatric case.". Clin Exp Rheumatol. 2016. PMID 26752080.