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    FBN1 fibrillin 1 [ Bos taurus (cattle) ]

    Gene ID: 281154, updated on 5-Mar-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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    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. Identification of an FBN1 mutation in bovine Marfan syndrome-like disease. Hirano T, et al. Anim Genet, 2012 Feb. PMID 22221020
    4. 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
    5. 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. Singleton AC, et al. Hum Mutat, 2005 Apr. PMID 15776436

    See all (12) 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
      A0A3Q1M3V3
      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
      A0A3Q1M3V3
      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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