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)[1] Lokus 15q21.1 Alku 48,408,313 bp[1] Loppu 48,645,721 bp[1]
Geenisijainti (Hiiri) Kromosomi Kromosomi 2 (hiiri)[2] Lokus 2 F1|2 61.38 cM Alku 125,142,514 bp[2] Loppu 125,349,913 bp[2]
RNA-ilmenemisen kaava Bgee Geenisijainti (Ihminen) Geenisijainti (Hiiri) 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 external carotid artery nouseva aortta Napanuora kammio-valtimoläppä aorttaläppä gastrula internal carotid artery ciliary body verinahka efferent ductule More reference expression data BioGPS 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 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 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 Laji Ihminen Hiiri Entrez 2200 14118 Ensembl ENSG00000166147 ENSMUSG00000027204 UniProt P35555 Q61554 RefSeq (mRNA) NM_000138 NM_007993 RefSeq (proteiini) NP_000129 NP_032019 Lokaatio (UCSC) Chr 15: 48.41 – 48.65 Mb Chr 2: 125.14 – 125.35 Mb PubMed haku [3] [4]
Wikidata
Ihminen Wikidatassa Hiiri Wikidatassa

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

1. ↑ ^{a b c} GRCh38: Ensembl release 89: ENSG00000166147 – Ensembl, May 2017
2. ↑ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000027204 – Ensembl, May 2017
3. ↑ Human PubMed Reference: ncbi.nlm.nih.gov.
4. ↑ Mouse PubMed Reference: ncbi.nlm.nih.gov.