FBN1

FBN1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W86
Dynodwyr
Cyfenwau	FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
Dynodwyr allanol	OMIM: 134797 HomoloGene: 30958 GeneCards: FBN1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • extracellular matrix constituent conferring elasticity • GO:0032403 protein-containing complex binding • extracellular matrix structural constituent • integrin binding • GO:0001948, GO:0016582 protein binding • hormone activity • heparin binding • identical protein binding Cydrannau o'r gell • GO:0005578 extracellular matrix • basement membrane • extracellular exosome • intracellular anatomical structure • extracellular region • microfibril • extracellular space • endoplasmic reticulum lumen • collagen-containing extracellular matrix Prosesau biolegol • cellular response to transforming growth factor beta stimulus • skeletal system development • kidney development • embryonic eye morphogenesis • post-embryonic eye morphogenesis • cellular response to insulin-like growth factor stimulus • extracellular matrix disassembly • extracellular matrix organization • heart development • camera-type eye development • metanephros development • regulation of cellular response to growth factor stimulus • protein kinase A signaling • activation of protein kinase A activity • glucose metabolic process • cell adhesion mediated by integrin • glucose homeostasis • sequestering of BMP in extracellular matrix • sequestering of TGFbeta in extracellular matrix • negative regulation of osteoclast differentiation • negative regulation of osteoclast development • post-translational protein modification • regulation of signaling receptor activity • GO:0072468 signal transduction Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2200	n/a
Ensembl	ENSG00000166147	n/a
UniProt	P35555	n/a
RefSeq (mRNA)	NM_000138	n/a
RefSeq (protein)	NP_000129	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 FBN1 yw FBN1 a elwir hefyd yn Fibrillin 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 15, band 15q21.1.

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 FBN1.

• FBN
• SGS
• WMS
• MASS
• MFLS
• MFS1
• OCTD
• SSKS
• WMS2
• ACMICD
• ECTOL1
• GPHYSD2

Llyfryddiaeth

• "Asprosin is a centrally acting orexigenic hormone. ". Nat Med. 2017. PMID 29106398.
• "Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion. ". Can J Ophthalmol. 2017. PMID 28985825.
• "Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. ". Am J Med Genet A. 2017. PMID 28696036.
• "Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. ". Heart. 2017. PMID 28468757.
• "Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.". Genet Res (Camb). 2016. PMID 27724990.