InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CFC1

Summary

InnateDB Protein

IDBP-69912.6

Last Modified

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

Gene Symbol

CFC1

Protein Name

cripto, FRL-1, cryptic family 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000259216

InnateDB Gene

IDBG-69910 (CFC1)

Protein Structure

UniProt Annotation

Function

NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation. {ECO:0000269PubMed:11062482}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:18930707}; Lipid-anchor, GPI-anchor {ECO:0000269PubMed:18930707}. Secreted {ECO:0000269PubMed:18930707}. Note=Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI- signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates.

Disease Associations

Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376]: 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 been associated with variety of congenital defects including cardiac malformations. {ECO:0000269PubMed:11062482}. Note=The disease is caused by mutations affecting the gene represented in this entry.Transposition of the great arteries dextro-looped 2 (DTGA2) [MIM:613853]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. Note=The disease is caused by mutations affecting the gene represented in this entry.Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269PubMed:11799476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.