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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 NCBI 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

Gene Tree: Fras1

Human
homologs
Human Homolog FRAS1, Fraser extracellular matrix complex subunit 1
NCBI Gene ID 80144
neXtProt AC  NX_Q86XX4
Human Chr (Location)  4q21.21; chr4:78056968-78544269 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human FRAS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Radiation induced(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Fras1 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(4)
Interactions
Fras1 interacts with 482 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: (20 records)
Data Summary: Results (391)    Tissues (115)    Images (47)
Theiler Stages: 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 46
RNA in situ 309
RT-PCR 36
cDNA source data(42)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(44) cDNA(42) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000034687 (Evidence)
Entrez Gene231470 (Evidence)
UniGene291120
DFCITC1586579, TC1597927, TC1601744, TC1618253
DoTSDT.40139373, DT.91305924
NIA Mouse Gene IndexU005824
Consensus CDS ProjectCCDS19450.1
International Mouse Knockout Project StatusFras1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 231470 NCBI Gene Model | MGI Sequence Detail 410774 C57BL/6J ±  kb
transcript NM_175473 RefSeq | MGI Sequence Detail 15848 C57BL/6 
polypeptide Q80T14 UniProt | EBI | MGI Sequence Detail 4010 Not Applicable 

For the selected sequences
All sequences(27) 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 von Willebrand factor, type C
Protein Ontology PR:000007653 extracellular matrix protein FRAS1
Graphical View of Protein Domain Structure
References (Earliest) J:13501 Phillips RJS, Blebbed, bl. Mouse News Lett. 1970;42:26
(Latest) J:208091 Richardson RJ, et al., AMACO Is a Component of the Basement Membrane-Associated Fraser Complex. J Invest Dermatol. 2014 May;134(5):1313-22
All references(50)
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
09/09/2014
MGI 5.19
The Jackson Laboratory