Entity Details

Primary name CFC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP0CG37
EntryNameCFC1_HUMAN
FullNameCryptic protein
TaxID9606
Evidenceevidence at protein level
Length223
SequenceStatuscomplete
DateCreated2010-07-13
DateModified2021-06-02

Ontological Relatives

GenesCFC1

GO terms

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GOName
GO:0001568 blood vessel development
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0007368 determination of left/right symmetry
GO:0007369 gastrulation
GO:0007507 heart development
GO:0009952 anterior/posterior pattern specification
GO:0009986 cell surface
GO:0031225 anchored component of membrane
GO:0038092 nodal signaling pathway
GO:0038100 nodal binding
GO:0048856 anatomical structure development
GO:0070697 activin receptor binding

Subcellular Location

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Subcellular Location
Cell membrane
Secreted

Domains

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DomainNameCategoryType
IPR000742 EGF-like domainDomainDomain
IPR019011 Cryptic/Cripto, CFC domainDomainDomain

Diseases

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Disease IDSourceNameDescription
605376 OMIMHeterotaxy, visceral, 2, autosomal (HTX2)A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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