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Fras1
Gene Detail
Symbol

Name
ID
Fras1
Fraser syndrome 1 homolog (human)
MGI:2385368
Synonyms
bl, E130113P14Rik, mKIAA1500
Feature Type
protein coding gene
Genetic Map
Chromosome 5
47.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:96373955-96784728 bp, + strand
From VEGA annotation of GRCm38

  410774 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23516  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: FRAS1
Gene Tree: Fras1

Human
homologs
FRAS1, Fraser extracellular matrix complex subunit 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 80144
neXtProt AC: NX_Q86XX4

Human Chr (Location): 4q21.21; chr4:78056968-78544269 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human FRAS1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(2) Radiation induced(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.
 
Human Diseases Modeled in Mice Using Fras1 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(5)
Interactions
Fras1 interacts with 481 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process cell communication, embryonic limb morphogenesis, ...
Component basement membrane, integral component of membrane, ...
Function metal ion binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (23 records)
Data Summary: Results (446)    Tissues (147)    Images (47)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 80
RNA in situ 330
RT-PCR 36
cDNA source data(42)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase fras1 ; ZFIN fras1    NEW 
Molecular
reagents
All nucleic(45) cDNA(42) Primer pair(2) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000053289 (Evidence)
Ensembl Gene Model ENSMUSG00000034687 (Evidence)
Entrez Gene 231470 (Evidence)
UniGene 291120
DFCI TC1586579, TC1597927, TC1601744, TC1618253
DoTS DT.40139373, DT.91305924
NIA Mouse Gene Index U005824
Consensus CDS Project CCDS19450.1
International Mouse Phenotyping Consortium Status Fras1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000053289 VEGA Gene Model | MGI Sequence Detail 410774 C57BL/6J ±  kb
transcript OTTMUST00000133108 VEGA | MGI Sequence Detail 15848 Not Applicable 
polypeptide OTTMUSP00000070864 VEGA | MGI Sequence Detail 4010 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(4161 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006212 Furin-like repeat
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR003644 Na-Ca exchanger/integrin-beta4
InterPro IPR001007 VWFC domain
Protein Ontology PR:000007653 extracellular matrix protein FRAS1
References
(Earliest) J:13501 Phillips RJS, Blebbed, bl. Mouse News Lett. 1970;42:26
(Latest) J:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4
All references(52)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-1573, MGI:2442305, MGI:88167

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory