FBN1 (fibrillin 1)

Identity

Other names	FBN
	MASS
	MFS1
	OCTD
	SGS
	WMS
HGNC	FBN1
Location	15q21.1
Location_base_pair	Starts at 46487797 and ends at 46725210 bp from pter ( according to hg18-March_2006).
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	FBN1   3603
Entrez_Gene	FBN1  2200  fibrillin 1
	Cards
GeneCards	FBN1
Ensembl	FBN1 [Search_View]   ENSG00000166147 [Gene_View]
Genatlas	FBN1
GeneLynx	FBN1
eGenome	FBN1
euGene	2200
	Genomic and cartography
GoldenPath	FBN1  -  15q21.1   chr15:46487797-46725210 -  15q21.1   [Description]    (hg18-March_2006)
Ensembl	FBN1 - 15q21.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	FBN1
	Gene and transcription
Genbank	AB208840 [ ENTREZ ]
Genbank	AK309616 [ ENTREZ ]
Genbank	BC094721 [ ENTREZ ]
Genbank	BC146854 [ ENTREZ ]
Genbank	L13923 [ ENTREZ ]
RefSeq	NM_000138 [ SRS ]    NM_000138 [ ENTREZ ]
RefSeq	AC_000058 [ SRS ]    AC_000058 [ ENTREZ ]
RefSeq	AC_000147 [ SRS ]    AC_000147 [ ENTREZ ]
RefSeq	NC_000015 [ SRS ]    NC_000015 [ ENTREZ ]
RefSeq	NT_010194 [ SRS ]    NT_010194 [ ENTREZ ]
RefSeq	NW_001838218 [ SRS ]    NW_001838218 [ ENTREZ ]
RefSeq	NW_925884 [ SRS ]    NW_925884 [ ENTREZ ]
AceView	FBN1 AceView - NCBI
Unigene	Hs.591133 [ SRS ]    Hs.591133 [ NCBI ]     HS591133 [ spliceNest ]
Fast-db	4933 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P35555 [ SRS]    P35555 [ EXPASY ]     P35555 [ INTERPRO ]     P35555 [ UNIPROT ]
Prosite	PS00010 ASX_HYDROXYL [ SRS ]    PS00010 ASX_HYDROXYL [ Expasy ]
Prosite	PS00022 EGF_1 [ SRS ]    PS00022 EGF_1 [ Expasy ]
Prosite	PS01186 EGF_2 [ SRS ]    PS01186 EGF_2 [ Expasy ]
Prosite	PS50026 EGF_3 [ SRS ]    PS50026 EGF_3 [ Expasy ]
Prosite	PS01187 EGF_CA [ SRS ]    PS01187 EGF_CA [ Expasy ]
Prosite	PS51364 TB [ SRS ]    PS51364 TB [ Expasy ]
Interpro	IPR006210 EGF [ SRS ]    IPR006210 EGF [ EBI ]
Interpro	IPR000152 EGF-type_Asp/Asn_hydroxyl_CS [ SRS ]    IPR000152 EGF-type_Asp/Asn_hydroxyl_CS [ EBI ]
Interpro	IPR000742 EGF_3 [ SRS ]    IPR000742 EGF_3 [ EBI ]
Interpro	IPR001881 EGF_Ca_bd [ SRS ]    IPR001881 EGF_Ca_bd [ EBI ]
Interpro	IPR013091 EGF_Ca_bd_2 [ SRS ]    IPR013091 EGF_Ca_bd_2 [ EBI ]
Interpro	IPR013111 EGF_extracell [ SRS ]    IPR013111 EGF_extracell [ EBI ]
Interpro	IPR006209 EGF_like [ SRS ]    IPR006209 EGF_like [ EBI ]
Interpro	IPR013032 EGF_like_reg_CS [ SRS ]    IPR013032 EGF_like_reg_CS [ EBI ]
Interpro	IPR002212 Fibril-assoc [ SRS ]    IPR002212 Fibril-assoc [ EBI ]
Interpro	IPR011398 Fibrillin [ SRS ]    IPR011398 Fibrillin [ EBI ]
CluSTr	P35555
Pfam	PF00008 EGF [ SRS ]    PF00008 EGF [ Sanger ]    pfam00008 [ NCBI-CDD ]
Pfam	PF07974 EGF_2 [ SRS ]    PF07974 EGF_2 [ Sanger ]    pfam07974 [ NCBI-CDD ]
Pfam	PF07645 EGF_CA [ SRS ]    PF07645 EGF_CA [ Sanger ]    pfam07645 [ NCBI-CDD ]
Pfam	PF00683 TB [ SRS ]    PF00683 TB [ Sanger ]    pfam00683 [ NCBI-CDD ]
Smart	SM00181 EGF [EMBL]
Smart	SM00179 EGF_CA [EMBL]
Blocks	P35555
PDB	1APJ [ SRS ]    1APJ [ PdbSum ],   1APJ [ IMB ]   1APJ [ RSDB ]
PDB	1EMN [ SRS ]    1EMN [ PdbSum ],   1EMN [ IMB ]   1EMN [ RSDB ]
PDB	1EMO [ SRS ]    1EMO [ PdbSum ],   1EMO [ IMB ]   1EMO [ RSDB ]
PDB	1LMJ [ SRS ]    1LMJ [ PdbSum ],   1LMJ [ IMB ]   1LMJ [ RSDB ]
PDB	1UZJ [ SRS ]    1UZJ [ PdbSum ],   1UZJ [ IMB ]   1UZJ [ RSDB ]
PDB	1UZK [ SRS ]    1UZK [ PdbSum ],   1UZK [ IMB ]   1UZK [ RSDB ]
PDB	1UZP [ SRS ]    1UZP [ PdbSum ],   1UZP [ IMB ]   1UZP [ RSDB ]
PDB	1UZQ [ SRS ]    1UZQ [ PdbSum ],   1UZQ [ IMB ]   1UZQ [ RSDB ]
HPRD	00618
	Protein Interaction databases
DIP	P35555
IntAct	P35555
	Polymorphism : SNP, mutations, diseases
OMIM	129600;134797;154700;182212;604308;608328    [ map ]
GENECLINICS	129600;134797;154700;182212;604308;608328
SNP	FBN1 [dbSNP-NCBI]
SNP	NM_000138 [SNP-NCI]
SNP	FBN1 [GeneSNPs - Utah]  FBN1] [HGBASE - SRS]
HAPMAP	FBN1 [HAPMAP]
HGMD	FBN1
	General knowledge
Family Browser	FBN1 [UCSC Family Browser]
SOURCE	NM_000138
SMD	Hs.591133
SAGE	Hs.591133
GO	skeletal development [Amigo]  skeletal development
GO	microfibril [Amigo]  microfibril
GO	transmembrane receptor activity [Amigo]  transmembrane receptor activity
GO	extracellular matrix structural constituent [Amigo]  extracellular matrix structural constituent
GO	extracellular matrix structural constituent [Amigo]  extracellular matrix structural constituent
GO	binding [Amigo]  binding
GO	calcium ion binding [Amigo]  calcium ion binding
GO	calcium ion binding [Amigo]  calcium ion binding
GO	calcium ion binding [Amigo]  calcium ion binding
GO	protein binding [Amigo]  protein binding
GO	extracellular region [Amigo]  extracellular region
GO	basement membrane [Amigo]  basement membrane
GO	extracellular space [Amigo]  extracellular space
GO	heart development [Amigo]  heart development
GO	blood coagulation [Amigo]  blood coagulation
GO	membrane [Amigo]  membrane
PubGene	FBN1
TreeFam	FBN1
CTD	2200 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	FBN1 Related clones (RZPD - Berlin)
	PubMed
PubMed	153 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 18 14:41:03 2008