ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

FBN1

Full Name:

fibrillin 1

Alias:

FBN|MASS|MFS1|OCTD|SGS|WMS

Organism:

Homo sapiens (Human)

Chromosome:

15

Genetic Location:

15q21.1

Physical Location:

46487796-46725209 on NC_000015.8, complement

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

FBN1

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_000138.3	NP_000129.2	NC_000015.8 range: 46487796..46725209, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016020	membrane	Cellular Component	IEA
GO:0001527	microfibril	Cellular Component	IDA (1860873\|3536967)
GO:0005615	extracellular space	Cellular Component	IDA (3536967)
GO:0005604	basement membrane	Cellular Component	IDA (3536967)
GO:0005576	extracellular region	Cellular Component	IEA
GO:0005515	protein binding	Molecular Function	IPI (15165854)
GO:0005509	calcium ion binding	Molecular Function	TAS (8188302)
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0005509	calcium ion binding	Molecular Function	IDA (7691719)
GO:0005488	binding	Molecular Function	IEA
GO:0005201	extracellular matrix structural constituent	Molecular Function	TAS (10931876)
GO:0005201	extracellular matrix structural constituent	Molecular Function	IDA (3536967)
GO:0004888	transmembrane receptor activity	Molecular Function	IEA
GO:0007507	heart development	Biological Process	IMP (15781745)
GO:0007596	blood coagulation	Biological Process	IEA
GO:0001501	skeletal development	Biological Process	IMP (8188302)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000166147

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: