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Fbn1 fibrillin 1 [ Mus musculus (house mouse) ]

Gene ID: 14118, updated on 16-Oct-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-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
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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)

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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_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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