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

Summary

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, Nov 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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse.
Title: Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse.
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.
the role of Fras1 in development
Title: bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.
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.
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.
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.
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.
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.
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.
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

D5Mit312 (e-PCR), detects polymorphism
- UniSTS:130455

AU015146 (e-PCR)
- UniSTS:207828

MHAa35c7.seq (e-PCR)
- UniSTS:125161

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 more info	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)

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

96518622..96932592

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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