Version 5.4
Homo sapiens Gene: FRAS1
Summary
InnateDB Gene IDBG-25908.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FRAS1
Gene Name Fraser syndrome 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138759
Encoded Proteins
IDBP-25914
Fraser syndrome 1
IDBP-25916
Fraser syndrome 1
IDBP-475357
Fraser syndrome 1
IDBP-480108
Fraser syndrome 1
IDBP-481394
Fraser syndrome 1
IDBP-479486
Fraser syndrome 1
IDBP-478818
Fraser syndrome 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:78057570-78544269
Strand Forward strand
Band q21.21
Transcripts
ENST00000325942 ENSP00000326330
ENST00000264899 ENSP00000264899
ENST00000508909 ENSP00000425583
ENST00000502446 ENSP00000423645
ENST00000508900 ENSP00000423809
ENST00000510944 ENSP00000422221
ENST00000512123 ENSP00000422834
ENST00000509802
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
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:0016020 membrane
GO:0016021 integral component of membrane
GO:0031012 extracellular matrix
GO:0061618 sublamina densa
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034687
View Gene Order
ENSBTAG00000010716
Not yet available
Cross-References
SwissProt
TrEMBL Q69YV4
UniProt Splice Variant
Entrez Gene 80144
UniGene Hs.369448 Hs.701327
RefSeq NM_025074 XM_006714314 XM_006714315 XM_006714317 NM_001166133
HUGO HGNC:19185
OMIM 607830
CCDS CCDS54772
HPRD 06382
IMGT
EMBL AL157471
GenPept CAH10691
RNA Seq Atlas 80144

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca