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Details on Person UniProt:P0CG37 CFC1

Class:IdReferenceGeneProduct:937580
_chainChangeLogsignal peptide:1-25 added on Sat February 7 2015;chain:26-158 added on Sat February 7 2015;propeptide:159-223 added on Sat February 7 2015
_displayNameUniProt:P0CG37 CFC1
_timestamp2024-08-09 18:59:51
chainsignal peptide:1-25
chain:26-158
propeptide:159-223
checksumB52852A00ABCF1A3
commentFUNCTION 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 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family.CAUTION This gene differs from CFC1B by only one residue at position 78:R -> W. R78W is also thought to be a CFC1 polymorphism which has been shown to lead to a different cell surface distribution and activity (PubMed:11062482, PubMed:11799476).
created[InstanceEdit:937368] Yung, CK
descriptionrecommendedName: Cryptic protein alternativeName: Cryptic family protein 1
geneNameCFC1
identifierP0CG37
isSequenceChangedFALSE
keywordCell membrane
Developmental protein
Disease variant
Disulfide bond
EGF-like domain
Gastrulation
Glycoprotein
GPI-anchor
Heterotaxy
Lipoprotein
Membrane
Reference proteome
Secreted
Signal
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
nameCFC1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8988873] ENSEMBL:ENSG00000136698 CFC1 [Homo sapiens]
secondaryIdentifierCFC1_HUMAN
B2RCY0
B9EJD3
Q53T05
Q9GZR3
sequenceLength223
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:1181327] N-aspartyl-glycosylphosphatidylinositolethanolamine-CFC1 [plasma membrane] [Homo sapiens]
(referenceSequence)[ModifiedResidue:1226045] N-aspartyl-glycosylphosphatidylinositolethanolamine at 158
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No pathways have been reviewed or authored by UniProt:P0CG37 CFC1 (937580)