InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Fras1

Summary

InnateDB Protein

IDBP-181511.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Fras1

Protein Name

Fraser syndrome 1 homolog (human)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000043250

InnateDB Gene

IDBG-181509 (Fras1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000305}.

Disease Associations

Note=Defects in Fras1 are the cause of blebbed (bl) phenotype, which is characterized by blister formation, syndactyly, eyelid fusion and renal agenesis. Subepidermal blisters are predominantly formed in the head region around the eyes and at the distal part of the limbs. As development proceeds blisters that are initially transparent gradually become hemorrhagic and embryos die between E14.5 and E16.5. {ECO:0000269PubMed:12766769, ECO:0000269PubMed:12766770}.

Tissue Specificity

Found in a linear fashion underlying the epidermis and the basal surface of other epithelia in embryos. {ECO:0000269PubMed:12766770}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0002009	morphogenesis of an epithelium
GO:0003338	metanephros morphogenesis
GO:0007154	cell communication
GO:0015031	protein transport
GO:0030326	embryonic limb morphogenesis
GO:0043588	skin development
GO:0060021	palate development

Cellular Component

GO:0005604	basement membrane
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0061618	sublamina densa

Protein Structure and Domains

PDB ID

MGI:2385368

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001007 von Willebrand factor, type C
IPR003644 Na-Ca exchanger/integrin-beta4
IPR006212 Furin-like repeat
IPR006552 VWC out
IPR009030 Insulin-like growth factor binding protein, N-terminal

PFAM

PF00008
PF00093
PF03160

PRINTS

PIRSF

SMART

SM00181
SM00214
SM00237
SM00261
SM00215

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q80T14