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Gene: FBN1 (fibrillin 1) Homo sapiens
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Symbol: FBN1
Name: fibrillin 1
Description: Exhibits several functions, including heparin binding activity; identical protein binding activity; and signaling receptor binding activity. Involved in several processes, including activation of protein kinase A activity; eye development; and negative regulation of osteoclast development. Localizes to the basement membrane; extracellular space; and microfibril. Implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACMICD; asprosin; ECTOL1; FBN; fibrillin 15; fibrillin-1; fibrillin-1 preproprotein; GPHYSD2; MASS; MFLS; MFS1; OCTD; SGS; SSKS; Weill-Marchesani syndrome; WMS; WMS2
Orthologs:
Mus musculus (house mouse) : Fbn1 (fibrillin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fbn1 (fibrillin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fbn1 (fibrillin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : FBN1 (fibrillin 1)
Canis lupus familiaris (dog) : FBN1 (fibrillin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fbn1 (fibrillin 1)
Sus scrofa (pig) : FBN1 (fibrillin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381548,408,306 - 48,645,788 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371548,700,503 - 48,937,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,487,797 - 46,725,210 (-)NCBINCBI36hg18NCBI36
Build 341546,489,478 - 46,724,391NCBI
Celera1525,592,970 - 25,831,601 (-)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1525,532,899 - 25,770,042 (-)NCBIHuRef
CHM1_11548,818,485 - 49,055,993 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model