FBN1

FBN1
Saatavilla olevat rakenteet
PDB	Ortologiahaku: PDBe RCSB
Luettelo PDB-tunnisteita
	1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W86
Tunnisteet
Aliakset	FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
Muut tunnisteet	OMIM: 134797; MGI: 95489; HomoloGene: 30958; GeneCards: FBN1; OMA:FBN1 - orthologs
Geenisijainti (Ihminen)
Kromosomi	Kromosomi 15 (ihminen)
Loppu	48,645,721 bp
Geenisijainti (Hiiri)
Kromosomi	Kromosomi 2 (hiiri)
Loppu	125,349,913 bp
RNA-ilmenemisen kaava
	Top expressed in
	synovial joint; ; skin of hip; ; decidua; ; stromal cell of endometrium; ; häpy; ; perikardium; ; periodontal fiber; ; onttolaskimot; ; parietal pleura; ; saphenous vein;
	Top expressed in
	ulompi kaulavaltimo; ; nouseva aortta; ; Napanuora; ; kammio-valtimoläppä; ; aorttaläppä; ; gastrula; ; sisempi kaulavaltimo; ; ciliary body; ; verinahka; ; efferent ductule;
	Lisää ilmenemistietoa
	; ;
	Lisää ilmenemistietoa
Geenin ontologia
Molekulaarinen toiminto	calcium ion binding; extracellular matrix constituent conferring elasticity; protein-containing complex binding; extracellular matrix structural constituent; integrin binding; Proteiinisitoutuminen plasmassa; hormone activity; heparin binding; identical protein binding;
Solukomponentti	Soluväliaine; tyvikalvo; Solunulkoiset vesikkelit; intracellular anatomical structure; extracellular region; microfibril; extracellular space; endoplasmic reticulum lumen; collagen-containing extracellular matrix;
Biologinen prosessi	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; development of the heart; camera-type eye development; metanephros development; regulation of cellular response to growth factor stimulus; protein kinase A signaling; activation of protein kinase A activity; glukoosiaineenvaihdunta; 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; signal transduction;
	Lähteet:Amigo / QuickGO
Ortologia
	2200
	14118
	ENSG00000166147
	ENSMUSG00000027204
	P35555
	Q61554
	NM_000138
	NM_007993
	NP_000129
	NP_032019
	Wikidata
Ihminen Wikidatassa	Hiiri Wikidatassa

FBN1 on 15. kromosomissa sijaitseva ihmisen geeni. Mutatoituessaan geeni altistaa Marfanin oireyhtymälle.

Lähteet

1 2 3 GRCh38: Ensembl release 89: ENSG00000166147 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027204 – Ensembl, May 2017
↑ Human PubMed Reference: ncbi.nlm.nih.gov.
↑ Mouse PubMed Reference: ncbi.nlm.nih.gov.

Aiheesta muualla

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000166147 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027204 – Ensembl, May 2017

[3] Human PubMed Reference: ncbi.nlm.nih.gov.

[4] Mouse PubMed Reference: ncbi.nlm.nih.gov.

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