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 zebrafish

Gene Tree: Fras1

Human homologs

Human Homolog		FRAS1, Fraser syndrome 1
NCBI Gene ID		80144
neXtProt AC		NX_Q86XX4
Human Chr (Location)		4q21.21; chr4:78978724-79465423 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human FRAS1

Alleles and phenotypes

All alleles(4) : Targeted(3) Radiation induced(1)
 

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(2)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	cell communication, morphogenesis of an epithelium, ...
Component	basement membrane, integral to membrane, ...
Function	metal ion binding, protein binding

External Resources: FuncBase

Expression

Literature Summary: (18 records)
Data Summary: Results (339)    Tissues (69)    Images (47)
Theiler Stages: 17, 19, 20, 21, 22, 23, 24, 26

Assay Type	Results
Immunohistochemistry	28
RNA in situ	309
RT-PCR	2

cDNA source data(43)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(44) cDNA(43) Primer pair(1)
Microarray probesets(4)

Other database links

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 Knockout Project Status	Fras1

Sequences

Length	Strain/Species
genomic	231470	NCBI Gene Model | MGI Sequence Detail	410774	C57BL/6J
transcript	NM_175473	RefSeq | MGI Sequence Detail	15848	C57BL/6
polypeptide	Q80T14	UniProt | EBI | MGI Sequence Detail	4010	Not Applicable

All sequences(25) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(2975 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006212	Furin-like repeat
InterPro	IPR009030	Growth factor, receptor
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:192553 Beck TF, et al., Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 1;22(5):1026-38
All references(45)

Other accession IDs

MGD-MRK-1573, MGI:2442305, MGI:88167