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    Fbn1 fibrillin 1 [ Mus musculus (house mouse) ]

    Gene ID: 14118, updated on 20-Jul-2021

    Summary

    Official Symbol
    Fbn1provided by MGI
    Official Full Name
    fibrillin 1provided by MGI
    Primary source
    MGI:MGI:95489
    See related
    Ensembl:ENSMUSG00000027204
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tsk; Fib-; Fib-1; AI536462; B430209H23
    Summary
    This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Homozygous knockout mice for this gene exhibit impaired aortic development and early postnatal death, which was attributed to a deficiency in the fibrillin-1 protein. Mice with a hypomorphic allele of this gene exhibit impaired glucose homeostasis, likely due to a reduction in serum asprosin levels. [provided by RefSeq, Apr 2016]
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 25.5), mammary gland adult (RPKM 18.3) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Fbn1 in Genome Data Viewer
    Location:
    2 F1; 2 61.38 cM
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (125142514..125348417, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (125300594..125506485, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (125126330..125332174, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene solute carrier family 12, member 1 Neighboring gene predicted gene 14002 Neighboring gene deoxyuridine triphosphatase Neighboring gene centrosomal protein 152 Neighboring gene 60S ribosomal protein L27 pseudogene Neighboring gene SHC (Src homology 2 domain containing) family, member 4 Neighboring gene EP300 interacting inhibitor of differentiation 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables extracellular matrix structural constituent ISO
    Inferred from Sequence Orthology
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables heparin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hormone activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables integrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in activation of protein kinase A activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glucose homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in kidney development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in metanephros development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of osteoclast development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoclast development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoclast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein kinase A signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sequestering of BMP in extracellular matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sequestering of TGFbeta in extracellular matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal system development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in basement membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microfibril ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microfibril TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    fibrillin-1
    Names
    tight skin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007993.2NP_032019.2  fibrillin-1 preproprotein

      See identical proteins and their annotated locations for NP_032019.2

      Status: REVIEWED

      Source sequence(s)
      AK046621, AL844547, CJ044840
      Consensus CDS
      CCDS16676.1
      UniProtKB/Swiss-Prot
      Q61554
      Related
      ENSMUSP00000028633.7, ENSMUST00000028633.13
      Conserved Domains (10) summary
      smart00179
      Location:18101842
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:19752010
      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 ...
      pfam07645
      Location:19321973
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:15511592
      TB; TB domain
      pfam12662
      Location:24672490
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:13691404
      EGF_3; EGF domain
      pfam14670
      Location:12031238
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18193
      Location:4882
      Fibrillin_U_N; Fibrillin 1 unique N-terminal domain
      cl00057
      Location:24442484
      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:725765
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      125142514..125348417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498747.2XP_006498810.1  fibrillin-1 isoform X1

      See identical proteins and their annotated locations for XP_006498810.1

      UniProtKB/Swiss-Prot
      Q61554
      Conserved Domains (10) summary
      smart00179
      Location:18101842
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:19752010
      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 ...
      pfam07645
      Location:19321973
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:15511592
      TB; TB domain
      pfam12662
      Location:24672490
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:13691404
      EGF_3; EGF domain
      pfam14670
      Location:12031238
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18193
      Location:4882
      Fibrillin_U_N; Fibrillin 1 unique N-terminal domain
      cl00057
      Location:24442484
      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:725765
      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_036158280.1XP_036014173.1  fibrillin-1 isoform X2

      Conserved Domains (9) summary
      smart00179
      Location:18101842
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:19752010
      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 ...
      pfam07645
      Location:19321973
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:15511592
      TB; TB domain
      pfam12662
      Location:789812
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:13691404
      EGF_3; EGF domain
      pfam14670
      Location:12031238
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18193
      Location:4882
      Fibrillin_U_N; Fibrillin 1 unique N-terminal domain
      cl21504
      Location:725765
      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 ...
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