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FBN1 fibrillin 1 [ Bos taurus (domestic cattle) ]

Gene ID: 281154, updated on 4-Oct-2024

Summary

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Official Symbol
FBN1provided by VGNC
Official Full Name
fibrillin 1provided by VGNC
Primary source
VGNC:VGNC:28885
See related
Ensembl:ENSBTAG00000002278
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Bos taurus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs
human mouse all
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Genomic context

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See FBN1 in Genome Data Viewer
Location:
chromosome: 10
Exon count:
67
Annotation release Status Assembly Chr Location
RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) 10 NC_037337.1 (61654504..61919167)

Chromosome 10 - NC_037337.1Genomic Context describing neighboring genes Neighboring gene centrosomal protein 152 Neighboring gene transfer RNA cysteine (anticodon ACA) Neighboring gene endogenous retrovirus group K member 6 Env polyprotein-like Neighboring gene uncharacterized LOC112448492 Neighboring gene microRNA mir-10168 Neighboring gene small nucleolar RNA SNORA72 Neighboring gene deoxyuridine triphosphatase

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_037337.1 Chromosome 10 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Linkage mapping of FBN1 to bovine chromosome 10. Thue TD, et al. Anim Genet, 2003 Apr. PMID 12648102
  2. Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10. Tilstra DJ, et al. Genomics, 1994 Sep 15. PMID 7835900
  3. Developmental and hormonal regulation of FBN1 and OR4M1 mRNA in bovine granulosa cells. Maylem ERS, et al. Domest Anim Endocrinol, 2023 Jul-Oct. PMID 37167929, Free PMC Article
  4. Identification of an FBN1 mutation in bovine Marfan syndrome-like disease. Hirano T, et al. Anim Genet, 2012 Feb. PMID 22221020
  5. Microfibrils and fibrillin-1 induce integrin-mediated signaling, proliferation and migration in human endothelial cells. Mariko B, et al. Am J Physiol Cell Physiol, 2010 Nov. PMID 20686071

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Developmental and hormonal regulation of FBN1 and OR4M1 mRNA in bovine granulosa cells.
    Title: Developmental and hormonal regulation of FBN1 and OR4M1 mRNA in bovine granulosa cells.
  2. Study concludes that the c.8227-1G>A mutation is causative for Marfan syndrome-like disease.
    Title: Identification of an FBN1 mutation in bovine Marfan syndrome-like disease.
  3. Data suggest that genetic fibrillin-1 deficiency could alter normal endothelial signaling.
    Title: Microfibrils and fibrillin-1 induce integrin-mediated signaling, proliferation and migration in human endothelial cells.
  4. This is the first study to investigate the expression and localization of fibrillin proteins and latent TGF-beta binding proteins affecting TGFbeta bioavailability in the ovary.
    Title: Fibrillins and latent TGFbeta binding proteins in bovine ovaries of offspring following high or low protein diets during pregnancy of dams.
  5. The coordinate upregulation of fibrillin-1 and fibrillin-2 expression with the onset of tropoelastin production is consistent with a role in elastic fiber assembly.
    Title: Fibrillin-1 and fibrillin-2 show temporal and tissue-specific regulation of expression in developing elastic tissues.
  6. In cases of vascular calcification, the decreased expression of FBN1 may be partially responsible for decreased vascular elasticity and also for the decreased formation of new elastic fibers.
    Title: Accelerated calcification represses the expression of elastic fiber components and lysyl oxidase in cultured bovine aortic smooth muscle cells.
  7. a calcium-binding epidermal growth factor-like domain of fibrillin-1 c.3598G > A, p.E1200K mutation is responsible for a bovine model of Marfan syndrome
    Title: Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.
  8. Results describe the intrinsic elastic properties of individual fibrillin microfibrils, which act as reinforcing fibres in fibrous composite tissues.
    Title: Fibrillin microfibrils are stiff reinforcing fibres in compliant tissues.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
fibrillin-1
Names
MP340

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_174053.2 → NP_776478.1  fibrillin-1 precursor

    See identical proteins and their annotated locations for NP_776478.1

    Status: PROVISIONAL

    Source sequence(s)
    L28748
    UniProtKB/TrEMBL
    A0AAF6YJD4
    Related
    ENSBTAP00000002944.6, ENSBTAT00000002944.7
    Conserved Domains (8) summary
    smart00179
    Location:1808 → 1840
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:765 → 806
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:1549 → 1584
    TB; TB domain
    pfam06247
    Location:1248 → 1413
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    pfam07645
    Location:1930 → 1971
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:1367 → 1402
    EGF_3; EGF domain
    cl00057
    Location:1194 → 1235
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl21504
    Location:2013 → 2053
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference ARS-UCD2.0 Primary Assembly

Genomic

  1. NC_037337.1 Reference ARS-UCD2.0 Primary Assembly

    Range
    61654504..61919167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_015473179.3 → XP_015328665.1  fibrillin-1 isoform X1

    UniProtKB/Swiss-Prot
    F1N4K8, P98133
    UniProtKB/TrEMBL
    A0AAF6YJD4
    Conserved Domains (8) summary
    smart00179
    Location:1808 → 1840
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:765 → 806
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00683
    Location:1549 → 1584
    TB; TB domain
    pfam06247
    Location:1248 → 1413
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    pfam07645
    Location:1930 → 1971
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:1367 → 1402
    EGF_3; EGF domain
    cl00057
    Location:1194 → 1235
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl21504
    Location:2013 → 2053
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

  2. XM_059890186.1 → XP_059746169.1  fibrillin-1 isoform X2

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98133.2 GenPept UniProtKB/Swiss-Prot:P98133

Gene LinkOut

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