Atlas of Genetics and Cytogenetics in Oncology and Haematology

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FBN1 (fibrillin 1)

Identity

Other namesACMICD
ECTOL1
FBN
GPHYSD2
MASS
MFS1
OCTD
SGS
SSKS
WMS
WMS2
HGNC (Hugo) FBN1
LocusID (NCBI) 2200
Location 15q21.1
Location_base_pair Starts at 48700503 and ends at 48937985 bp from pter ( according to hg19-Feb_2009)
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 (Hugo)FBN1   3603
Entrez_Gene (NCBI)FBN1  2200  fibrillin 1
Cards
GeneCards (Weizmann)FBN1
Ensembl (Hinxton)ENSG00000166147 [Gene_View]  chr15:48700503-48937985 [Contig_View]  FBN1 [Vega]
AceView (NCBI)FBN1
Genatlas (Paris)FBN1
SOURCE (Stanford)NM_000138
Genomic and cartography
GoldenPath (UCSC)FBN1  -  15q21.1   chr15:48700503-48937985 -  15q21.1   [Description]    (hg19-Feb_2009)
EnsemblFBN1 - 15q21.1 [CytoView]
Mapping of homologs : NCBIFBN1 [Mapview]
OMIM102370   129600   134797   154700   182212   184900   604308   608328   614185   
Gene and transcription
Genbank (Entrez)AB208840 AK304737 AK309616 BC094721 BC146854
RefSeq transcript (SRS)NM_000138
RefSeq transcript (Entrez)NM_000138
RefSeq genomic (SRS)AC_000147 NC_000015 NC_018926 NG_008805 NT_010194 NW_001838218 NW_004078084
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_008805 NT_010194 NW_001838218 NW_004078084
Consensus coding sequences : CCDS (NCBI)FBN1
Cluster EST : UnigeneHs.591133 [ SRS ] Hs.591133 [ NCBI ]
CGAP (NCI)Hs.591133
Alternative Splicing : Fast-db (Paris)GSHG0010394
Alternative Splicing GalleryENSG00000166147
Gene ExpressionFBN1 [ NCBI-GEO ]   FBN1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35555 (SRS) P35555 (Uniprot)
NextProtP35555
With graphics : InterProP35555
Splice isoforms : SwissVarP35555(Swissvar)
Domaine pattern : Prosite (SRS)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (SRS)EG-like_dom    EGF-like_Ca-bd    EGF-like_CS    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FBN    Growth_fac_rcpt    TB_dom   
Domains : Interpro (EBI)EG-like_dom    EGF-like_Ca-bd    EGF-like_CS    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FBN    Growth_fac_rcpt    TB_dom   
Related proteins : CluSTrP35555
Domain families : Pfam (SRS)EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
DMDM2200
Blocks (Seattle)P35555
PDB (SRS)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2W86   
PDB (PDBSum)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2W86   
PDB (IMB)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2W86   
PDB (RSDB)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2W86   
Human Protein AtlasENSG00000166147
HPRD00618
IPIIPI00328113   IPI01009156   IPI00556217   IPI01009467   
Protein Interaction databases
DIP (DOE-UCLA)P35555
IntAct (EBI)P35555
FunCoupENSG00000166147
REACTOMEFBN1
Protein Interaction Database2200
BioGRIDFBN1
InParanoidP35555
Interologous Interaction database P35555
IntegromeDBFBN1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FBN1
SNP (GeneSNP Utah)FBN1
SNP : HGBaseFBN1
Genetic variants : HAPMAPFBN1
Somatic Mutations in Cancer : COSMICFBN1 
CONAN: Copy Number AnalysisFBN1 
Mutations and Diseases : HGMDFBN1
OMIM102370    129600    134797    154700    182212    184900    604308    608328    614185   
GENETests102370    129600    134797    154700    182212    184900    604308    608328    614185   
Disease Genetic AssociationFBN1
Huge Navigator FBN1 [HugePedia]  FBN1 [HugeCancerGEM]
Genomic VariantsFBN1  FBN1 [DGVbeta]
snp3D : Map Gene to Disease2200
General knowledge
Homologs : HomoloGeneFBN1
Homology/Alignments : Family Browser (UCSC)FBN1
Phylogenetic Trees/Animal Genes : TreeFamFBN1
Chemical/Protein Interactions : CTD2200
Chemical/Pharm GKB GenePA28016
Clinical trialFBN1
Cancer Resource (Charite)ENSG00000166147
Ontology : AmiGOskeletal system development  microfibril  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  basement membrane  extracellular space  heart development  extracellular matrix  sequestering of BMP in extracellular matrix  sequestering of TGFbeta in extracellular matrix  
Ontology : EGO-EBIskeletal system development  microfibril  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  basement membrane  extracellular space  heart development  extracellular matrix  sequestering of BMP in extracellular matrix  sequestering of TGFbeta in extracellular matrix  
Other databases
Probes
Litterature
PubMed249 Pubmed reference(s) in Entrez
PubGeneFBN1
iHOPFBN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:23:52 CEST 2013
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