CFC1
entrez
55997
canonical
uniprot
P0CG37
canonical
ensembl
ENSG00000136698
resolver
ensp
ENSP00000259216
resolver
ensp
ENSP00000480526
resolver
ensp
ENSP00000480843
resolver
enst
ENST00000259216
resolver
enst
ENST00000615342
resolver
enst
ENST00000621673
resolver
genesymbol
CFC1
resolver
hgnc
HGNC:18292
resolver
uniprot
A0A087WWV2
resolver
uniprot
A0A087WX98
resolver
uniprot
B2RCY0
resolver
uniprot
B9EJD3
resolver
uniprot
Q53T05
resolver
uniprot
Q9GZR3
resolver
uniprot_entry
A0A087WWV2_HUMAN
resolver
uniprot_entry
A0A087WX98_HUMAN
resolver
uniprot_entry
CFC1_HUMAN
resolver
uniprot_sec
B2RCY0
resolver
uniprot_sec
B9EJD3
resolver
uniprot_sec
Q53T05
resolver
uniprot_sec
Q9GZR3
resolver
amino_acid_sequence
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL
uniprot
proteins
disease_involvement
DISEASE: 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 be associated with a variety of congenital defects including cardiac malformations. {ECO:0000269|PubMed:11062482, ECO:0000269|PubMed:11799476}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:11062482}.
uniprot
proteins
mass_dalton
24612
uniprot
proteins
mutagenesis
MUTAGEN 191..223; /note="LRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL->VVVVV: Does not affect the cellular localization and the biological activity."; MUTAGEN 191..223; /note="Missing: Increased NODAL dependent signaling.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250}.
uniprot
proteins
protein_family
EGF-CFC (Cripto-1/FRL1/Cryptic) family
uniprot
proteins
pubmed
11062482
uniprot
proteins
pubmed
11799476
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18930707
uniprot
proteins
sequence_length
223
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18930707}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:18930707}. Secreted {ECO:0000269|PubMed: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.
uniprot
proteins