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Fras1 Fraser extracellular matrix complex subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 231470, updated on 28-Oct-2024

Summary

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Official Symbol
Fras1provided by MGI
Official Full Name
Fraser extracellular matrix complex subunit 1provided by MGI
Primary source
MGI:MGI:2385368
See related
Ensembl:ENSMUSG00000034687 AllianceGenome:MGI:2385368
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
bl; mKIAA1500; E130113P14Rik
Summary
Predicted to enable metal ion binding activity. Predicted to be an extracellular matrix structural constituent. Acts upstream of or within several processes, including embryonic limb morphogenesis; metanephros morphogenesis; and roof of mouth development. Located in basement membrane. Is expressed in several structures, including alimentary system; body cavity or lining; brain; sensory organ; and skin. Used to study Fraser syndrome and clubfoot. Human ortholog(s) of this gene implicated in Fraser syndrome 1. Orthologous to human FRAS1 (Fraser extracellular matrix complex subunit 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in limb E14.5 (RPKM 3.5), placenta adult (RPKM 2.7) and 22 other tissues See more
Orthologs
human all
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Genomic context

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See Fras1 in Genome Data Viewer
Location:
5 E3; 5 47.29 cM
Exon count:
75
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (96518622..96932592)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (96373777..96784733)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex, subunit 6-like Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:96589986-96590095 Neighboring gene STARR-positive B cell enhancer mm9_chr5:96592485-96592786 Neighboring gene STARR-positive B cell enhancer ABC_E2159 Neighboring gene STARR-positive B cell enhancer mm9_chr5:96638970-96639271 Neighboring gene STARR-positive B cell enhancer ABC_E10331 Neighboring gene STARR-positive B cell enhancer ABC_E6348 Neighboring gene STARR-seq mESC enhancer starr_13674 Neighboring gene STARR-seq mESC enhancer starr_13675 Neighboring gene mitochondrial ribosomal protein L1 Neighboring gene predicted gene, 33050 Neighboring gene STARR-seq mESC enhancer starr_13678 Neighboring gene predicted gene, 52781 Neighboring gene predicted gene, 32995 Neighboring gene STARR-seq mESC enhancer starr_13679 Neighboring gene STARR-positive B cell enhancer mm9_chr5:97283346-97283646 Neighboring gene annexin A3 Neighboring gene predicted gene, 33100

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. Fraser syndrome and mouse 'bleb' mutants. Winter RM. Clin Genet, 1990 Jun. PMID 2166630
  2. Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse. Kalpachidou T, et al. Eur J Neurosci, 2021 Jun. PMID 32333816
  3. The genetics of Fraser syndrome and the blebs mouse mutants. Smyth I, et al. Hum Mol Genet, 2005 Oct 15. PMID 16244325
  4. Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development. Petrou P, et al. Exp Cell Res, 2007 Mar 10. PMID 17240369
  5. Genome-wide loss of 5-hmC is a novel epigenetic feature of Huntington's disease. Wang F, et al. Hum Mol Genet, 2013 Sep 15. PMID 23669348

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse.
    Title: Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse.
  2. The close correlation between limb bud epidermal blistering, decreased Msx2 expression, and reduced ICD in the Fras1(rdf) hindlimb buds suggests that epithelium detachment from the mesenchyme may create a physical gap that interrupts the transmission of BMP, among other signals, resulting in soft tissue syndactyly.
    Title: Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.
  3. the role of Fras1 in development
    Title: bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.
  4. Targeted deletion of Fras1 in kidney podocytes circumvented skin blistering, renal agenesis, and early death.
    Title: Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.
  5. Report Fras1 up-regulation/Frem down-regulation in nephrons from mice with polycystic kidney disease and Frem2 mutations.
    Title: Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
  6. The QBRICK, together with Fras1, defines the ability of BMs to bind integrin 81 through modulating the BM assembly of nephronectin, thereby regulating the integrin 81-mediated signals transmitted from the ureteric buds to the metanephric mesenchyme.
    Title: Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins.
  7. Fras1 is expressed in the branching ureteric bud; renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background.
    Title: Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.
  8. The localization pattern of Fras1 and Frem2 was indistinguishable, while both proteins along with Frem3 could be detected even in the absence of Frem1.
    Title: Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice.
  9. Fras1 is not only essential as a component of a macromolecular complex for the extracellular stabilization of Frem2 but it is also required for its proper intracellular trafficking and export from embryonic epithelial cells.
    Title: Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa.
  10. Taken together, our findings indicate that besides a cooperative function with Fras1 in embryonic basement membranes, Frem1 can also act independently in processes related to epidermal differentiation.
    Title: Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (3)  1 citation
  • Endonuclease-mediated (3) 
  • Radiation induced (1) 
  • Targeted (3)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell communication IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within metanephros morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within morphogenesis of an epithelium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within roof of mouth development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within skin development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in basement membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
extracellular matrix organizing protein FRAS1
Names
Fraser syndrome 1 homolog
Fraser syndrome 1 protein
blebbed
extracellular matrix protein FRAS1

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_175473.3 → NP_780682.3  extracellular matrix organizing protein FRAS1 precursor

    See identical proteins and their annotated locations for NP_780682.3

    Status: VALIDATED

    Source sequence(s)
    AC101391, AC121829, AC122007, AC151985, AK051850
    Consensus CDS
    CCDS19450.1
    UniProtKB/Swiss-Prot
    E9QPG9, Q80T14, Q80TC7, Q811H8, Q8BPZ4
    Related
    ENSMUSP00000043250.5, ENSMUST00000036019.5
    Conserved Domains (10) summary
    smart00214
    Location:27 → 86
    VWC; von Willebrand factor (vWF) type C domain
    smart00261
    Location:951 → 995
    FU; Furin-like repeats
    cd00064
    Location:607 → 652
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00093
    Location:220 → 277
    VWC; von Willebrand factor type C domain
    pfam00757
    Location:759 → 912
    Furin-like; Furin-like cysteine rich region
    pfam14843
    Location:511 → 623
    GF_recep_IV; Growth factor receptor domain IV
    pfam15913
    Location:1008 → 1098
    Furin-like_2; Furin-like repeat, cysteine-rich
    pfam16184
    Location:2263 → 2408
    Cadherin_3; Cadherin-like
    cl02522
    Location:2555 → 2648
    Calx-beta; Calx-beta domain
    cl17735
    Location:368 → 415
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    96518622..96932592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534873.5 → XP_006534936.1  extracellular matrix organizing protein FRAS1 isoform X1

    Conserved Domains (8) summary
    pfam03302
    Location:405 → 732
    VSP; Giardia variant-specific surface protein
    smart00214
    Location:27 → 86
    VWC; von Willebrand factor (vWF) type C domain
    smart00261
    Location:997 → 1038
    FU; Furin-like repeats
    TIGR00845
    Location:2507 → 2762
    caca; sodium/calcium exchanger 1
    pfam00093
    Location:220 → 277
    VWC; von Willebrand factor type C domain
    cl17735
    Location:368 → 415
    VWC; von Willebrand factor type C domain
    pfam16184
    Location:2249 → 2360
    Cadherin_3; Cadherin-like
    cl02522
    Location:2507 → 2600
    Calx-beta; Calx-beta domain

  2. XM_017320847.3 → XP_017176336.1  extracellular matrix organizing protein FRAS1 isoform X3

    Conserved Domains (4) summary
    TIGR00845
    Location:1580 → 1835
    caca; sodium/calcium exchanger 1
    pfam15913
    Location:26 → 123
    Furin-like_2; Furin-like repeat, cysteine-rich
    pfam16184
    Location:1322 → 1433
    Cadherin_3; Cadherin-like
    cl02522
    Location:2062 → 2156
    Calx-beta; Calx-beta domain

  3. XM_017320846.1 → XP_017176335.1  extracellular matrix organizing protein FRAS1 isoform X2

    Conserved Domains (4) summary
    pfam03302
    Location:27 → 267
    VSP; Giardia variant-specific surface protein
    TIGR00845
    Location:1726 → 1981
    caca; sodium/calcium exchanger 1
    pfam16184
    Location:1468 → 1579
    Cadherin_3; Cadherin-like
    cl02522
    Location:2208 → 2302
    Calx-beta; Calx-beta domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80T14.2 GenPept UniProtKB/Swiss-Prot:Q80T14

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