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cryptic family protein 1B (CFC1B)
Structure: contains 1 EGF-like domain
Compartment: secreted (putative)
Note:
- gene differs from CFC1B by only one residue at position 78:R -> W
- R78W is also thought to be a CFC1 polymorphism which leads to a different cell surface distribution & activity
General
glycoprotein
secreted protein
Properties
SIZE: entity length = 223 aa
MW = 25 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-25}
N-glycosylation site {N52}
EGF domain {86-115}
MOTIF: cysteine residue {C90}
MODIFICATION: cysteine residue {C97}
cysteine residue {C91}
MODIFICATION: cysteine residue {C103}
cysteine residue {C97}
MODIFICATION: cysteine residue {C90}
cysteine residue {C103}
MODIFICATION: cysteine residue {C91}
cysteine residue {C105}
MODIFICATION: cysteine residue {C114}
cysteine residue {C114}
MODIFICATION: cysteine residue {C105}
Database Correlations
UniProt P0CG36
Pfam PF09443
Entrez Gene 653275
References
- UniProt :accession P0CG36
- Goldmuntz E et al
CFC1 mutations in patients with transposition of the great
arteries and double-outlet right ventricle.
Am J Hum Genet. 2002 Mar;70(3):776-80. Epub 2002 Jan 17
PMID: 11799476
- Bamford RN et al
Loss-of-function mutations in the EGF-CFC gene CFC1 are
associated with human left-right laterality defects.
Nat Genet. 2000 Nov;26(3):365-9.
PMID: 11062482