Entity Details

Primary name FRAS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86XX4
EntryNameFRAS1_HUMAN
FullNameExtracellular matrix organizing protein FRAS1
TaxID9606
Evidenceevidence at protein level
Length4008
SequenceStatuscomplete
DateCreated2004-08-16
DateModified2021-06-02

Ontological Relatives

GenesFRAS1

GO terms

Show/Hide Table
GOName
GO:0002009 morphogenesis of an epithelium
GO:0003338 metanephros morphogenesis
GO:0005201 extracellular matrix structural constituent
GO:0005604 basement membrane
GO:0005886 plasma membrane
GO:0007154 cell communication
GO:0015031 protein transport
GO:0016021 integral component of membrane
GO:0030326 embryonic limb morphogenesis
GO:0043588 skin development
GO:0046872 metal ion binding
GO:0060021 roof of mouth development

Subcellular Location

Show/Hide Table
Subcellular Location
Cell membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR000742 EGF-like domainDomainDomain
IPR001007 VWFC domainDomainDomain
IPR003644 Na-Ca exchanger/integrin-beta4DomainDomain
IPR006212 Furin-like repeatRepeatRepeat
IPR009030 Growth factor receptor cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR038081 CalX-like domain superfamilyFamilyHomologous superfamily
IPR039005 CSPG repeatRepeatRepeat

Diseases

Show/Hide Table
Disease IDSourceNameDescription
219000 OMIMFraser syndrome 1 (FRASRS1)A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
FRAS1_HUMANST7_HUMANBioGRID29395067 details