HuLPr15314

Uniprot ID

CFC1_HUMAN

Uniprot Acc

P0CG37;B2RCY0;B9EJD3;Q53T05;Q9GZR3;

Protein name

Cryptic protein

Comment

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.||SUBCELLULAR LOCATION:Cell membrane; Lipid-anchor, GPI-anchor. Secreted. 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.||PTM:N-glycosylated (By similarity).||DISEASE:Defects in CFC1 are the cause of visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects including cardiac malformations and situs inversus or situs ambiguus.||DISEASE:Defects in CFC1 are a cause of transposition of the great

Subcellular localization

Cell membrane;Lipid-anchor, GPI-anchor.Secreted.

Gene name

cripto, FRL-1, cryptic family 1

Protein sequence

MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTK VATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRA FGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQ RRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRC DPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAP AHPRSLVPSVLQRERRPCGRPGLGHRL

Database cross reference

RefSeq Protein accession:NP_115934
RefSeq Protein gi:14211837

HLPP validation

Yes/No

Yes

Project name

French Liver;

GO:0031225;C:anchored to membrane;IEA:UniProtKB-KW. GO:0005576;C:extracellular region;IEA:UniProtKB-SubCell. GO:0005886;C:plasma membrane;IEA:UniProtKB-SubCell.

GO-P

GO:0007368;P:determination of left/right symmetry;NAS:UniProtKB. GO:0007369;P:gastrulation;IEA:UniProtKB-KW.