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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
FBN1 2200 fibrillin 1  15MASS, OCTD, SGS 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23963856   2013Cell line : -

Source : -

Sample Type : CRC tumor and Normal tissue

No. of Sample : 75

Stage : TNM Stage I-IV

Methylation specific PCRHypermethylation-hypermethylation status in the promoter of FBN1 is a high specific and sensitive biomarker for colorectal cancer, and detecting hypermethylated FBNI in stool samples is a noninvasive and useful method for screening colorectal cancer.

Out of 75 patients with colorectal cancer, 59 (78.7%) exhibited hypermethylated FBN1 in their tumor tissue DNA.


Gene Details



Chromosome 15 - NC_000015.10 (48408306..48645788, complement)

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Gene Type protein coding
Gene Family
Description This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.  
Chromosome 15
Location 15q21.1
Start 48408306  
End 48645788  
Strand -  
Gene Sequence

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Length 237483  
OMIM ID 134797   
HGNC ID HGNC:3603   
Unigene ID Hs.591133   
Ensembl ID ENSG00000166147   
PharmGKB ID -   

mRNA Information


mRNA ID NM_000138.4
Exon join(1..214,839..1183,32697..32779,34963..35061, 45555..45650,49411..49506,107981..108178,111584..111709, 119534..119659,124972..125130,129427..129606, 130262..130402,132121..132240,135620..135745, 137085..137207,140642..140764,141850..142002, 146751..146804,148398..148523,149564..149689, 150201..150320,150529..150666,151535..151585, 153203..153328,155711..155938,157296..157421, 157548..157676,158352..158477,158589..158714, 160293..160415,161846..161971,164009..164134, 171139..171261,171412..171534,173113..173238, 175033..175155,177255..177377,177687..177851, 179931..179999,180096..180221,181768..181890, 182549..182707,185472..185543,189027..189152, 193105..193227,196896..197021,198967..199083,  
mRNA Sequence

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Length 11695  



CDS Information


   
Location join(1020..1183,32697..32779,34963..35061,45555..45650, 49411..49506,107981..108178,111584..111709,119534..119659, 124972..125130,129427..129606,130262..130402, 132121..132240,135620..135745,137085..137207, 140642..140764,141850..142002,146751..146804, 148398..148523,149564..149689,150201..150320, 150529..150666,151535..151585,153203..153328, 155711.
CDS Sequence

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CCDS ID CCDS32232.1



Protein Information


      
Protein IDNP_000129.3
Protein Namefibrillin 1
Molecular Wt. (Da)309399
Protein Sequence

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Length 2871  
Uniprot IDQ13888
Ensembl Protein ID ENSP00000274400  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                          
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
811CALR169NP_004334.1in vivo10547375   
1462VCAN340NP_004376.2in vitro11726670   
1634DCN501NP_001911.1in vivo10793130   
2006ELN556NP_000492.2in vivo10825173   
2201FBN2416NP_001990.2in vivo1   035   965   310   504   300   
3339HSPG2804NP_005520.4in vitro15657057   


Pathway Information


No matching records could be found.

Structure Information


PDB ID1APJ
Resolution
MethodSOLUTION NMR
Chains A  
Molecule FIBRILLIN  
Model View



Domain Information




ID Location Description
cd000541808-1840  EGF_CA
cl215041808-1840  EGF_CA superfamily
cd00054530-571  EGF_CA
cl21504530-571  EGF_CA superfamily
cd00054613-642  EGF_CA
cl21504613-642  EGF_CA superfamily
cd000542127-2159  EGF_CA
cl215042127-2159  EGF_CA superfamily
cd000541322-1357  EGF_CA
cl215041322-1357  EGF_CA superfamily
cd000541113-1146  EGF_CA
cl215041113-1146  EGF_CA superfamily
cd000541363-1398  EGF_CA
cl215041363-1398  EGF_CA superfamily
cd000542607-2638  EGF_CA
cl215042607-2638  EGF_CA superfamily
cd000542567-2596  EGF_CA
cl215042567-2596  EGF_CA superfamily
cd000542166-2197  EGF_CA
cl215042166-2197  EGF_CA superfamily
cd00054572-606  EGF_CA
cl21504572-606  EGF_CA superfamily
cd000541973-2008  EGF_CA
cl215041973-2008  EGF_CA superfamily
cd000541648-1679  EGF_CA
cl215041648-1679  EGF_CA superfamily
cd00054765-806  EGF_CA
cl21504765-806  EGF_CA superfamily
cd000541446-1480  EGF_CA
cl215041446-1480  EGF_CA superfamily
cd000541487-1519  EGF_CA
cl215041487-1519  EGF_CA superfamily
pfam006831547-1588  TB
cl029261547-1588  TB superfamily
pfam00683193-235  TB
cl02926193-235  TB superfamily
pfam006832068-2110  TB
cl029262068-2110  TB superfamily
pfam006831704-1747  TB
cl029261704-1747  TB superfamily
pfam006832346-2389  TB
cl029262346-2389  TB superfamily
pfam00683668-710  TB
cl02926668-710  TB superfamily
pfam129471367-1402  EGF_3
pfam00683966-1007  TB
cl02926966-1007  TB superfamily
pfam00683860-900  TB
cl02926860-900  TB superfamily
cd014751194-1235  vWA_Matrilin
cl000571194-1235  vWFA superfamily
pfam00683343-388  TB
cl02926343-388  TB superfamily
smart001791808-1840  EGF_CA
pfam129471326-1361  EGF_3
pfam146701201-1236  FXa_inhibition
cl215041201-1236  EGF_CA superfamily
pfam076451930-1971  EGF_CA
cl215041930-1971  EGF_CA superfamily
smart00179530-571  EGF_CA
smart001791930-1972  EGF_CA
pfam076451322-1354  EGF_CA
pfam126621953-1976  cEGF
smart00179613-646  EGF_CA
pfam076451363-1402  EGF_CA
cd014752442-2482  vWA_Matrilin
cl000572442-2482  vWFA superfamily
smart001792166-2205  EGF_CA
pfam126621218-1241  cEGF
smart001792127-2165  EGF_CA
smart001792607-2638  EGF_CA
smart001792567-2596  EGF_CA
smart001791113-1149  EGF_CA
cd014751925-1970  vWA_Matrilin
cl000571925-1970  vWFA superfamily
pfam146702448-2483  FXa_inhibition
cl215042448-2483  EGF_CA superfamily
pfam126622465-2488  cEGF
smart001791363-1403  EGF_CA
smart00179572-612  EGF_CA
cd014752480-2516  vWA_Matrilin
cl000572480-2516  vWFA superfamily
cd000541930-1972  EGF_CA
smart001791648-1687  EGF_CA
pfam12662593-616  cEGF
cd014752289-2328  vWA_Matrilin
cl000572289-2328  vWFA superfamily
smart001791322-1362  EGF_CA
pfam07645723-763  EGF_CA
cl21504723-763  EGF_CA superfamily
smart001791606-1638  EGF_CA
cl215041606-1638  EGF_CA superfamily
cd014751847-1886  vWA_Matrilin
cl000571847-1886  vWFA superfamily
smart00179288-329  EGF_CA
cl21504288-329  EGF_CA superfamily
pfam076452485-2515  EGF_CA
cl215042485-2515  EGF_CA superfamily
pfam076452444-2483  EGF_CA
smart001791446-1486  EGF_CA
pfam076451808-1840  EGF_CA
pfam07645530-570  EGF_CA
smart001792524-2566  EGF_CA
cl215042524-2566  EGF_CA superfamily
smart001791487-1518  EGF_CA
pfam076452013-2053  EGF_CA
cl215042013-2053  EGF_CA superfamily
pfam076451606-1646  EGF_CA
pfam076451766-1806  EGF_CA
cl215041766-1806  EGF_CA superfamily
cd014751603-1645  vWA_Matrilin
cl000571603-1645  vWFA superfamily
smart001791766-1797  EGF_CA
smart00179765-796  EGF_CA
pfam07645288-328  EGF_CA
smart001791155-1188  EGF_CA
cl215041155-1188  EGF_CA superfamily
cd014752204-2243  vWA_Matrilin
cl000572204-2243  vWFA superfamily
cd014752006-2051  vWA_Matrilin
cl000572006-2051  vWFA superfamily
cd000541606-1639  EGF_CA
cd014752562-2597  vWA_Matrilin
cl000572562-2597  vWFA superfamily
smart00179490-521  EGF_CA
cl21504490-521  EGF_CA superfamily
smart001791070-1104  EGF_CA
cl215041070-1104  EGF_CA superfamily
smart001792013-2054  EGF_CA
pfam06247460-626  Plasmod_Pvs28
pfam062471248-1399  Plasmod_Pvs28
pfam062471776-1921  Plasmod_Pvs28
pfam062471900-2050  Plasmod_Pvs28


Ontology Information


   
HPRD ID476
Molecular ClassExtracellular matrix protein
Molecular FunctionSerine-type peptidase activity (GO:0008236)
Biological ProcessProtein metabolism (GO:0019538)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO