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NCBI Gene PubMed Count 20
PubMed Score 61.83
PubTator Score 810.34

Knowledge Summary

Patent

No data available

Gene RIF (10)

PMID Text
26476731 enhances macrophage phagocytic activity and upregulates the production of anti- and pro-inflammatory cytokines via the NF-kappaB signaling pathway
25423076 Data indicate that the duplication and deletion of CFC1 protein may play key roles in the occurrence of heterotaxy syndrome.
20634891 Observational study of gene-disease association. (HuGE Navigator)
19853937 CFC1 may be involved in the etiology of non-syndromic congenital heart disease in a Chinese population.
19853937 Observational study of gene-disease association. (HuGE Navigator)
18930707 Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension is reported.
18162845 results suggest that heterozygous cryptic family 1 (CFC1) mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome
17445335 Observational study of gene-disease association. (HuGE Navigator)
17072672 Observational study of gene-disease association. (HuGE Navigator)
11799476 CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

AA Sequence

MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGP      1 - 70
EEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCR     71 - 140
CIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRE    141 - 210
RRPCGRPGLGHRL                                                             211 - 223
//

Text Mined References (21)

PMID Year Title
26476731 2016 Cripto-1 modulates macrophage cytokine secretion and phagocytic activity via NF-?B signaling.
25423076 2015 Duplication and deletion of CFC1 associated with heterotaxy syndrome.
21640172 2011 Molecular evolution of the EGF-CFC protein family.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
19853937 2011 CFC1 mutations in Chinese children with congenital heart disease.
19661783 2009 Candidate genes associated with malignant pheochromocytomas by genome-wide expression profiling.
18930707 2008 Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension.
18456715 2008 Double outlet right ventricle: aetiologies and associations.
18162845 2008 CFC1 gene involvement in biliary atresia with polysplenia syndrome.
17445335 2007 Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.
17072672 Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15252450 2004 Lineage-specific gene duplication and loss in human and great ape evolution.
15096953 2004 Molecular genetics of heterotaxy syndromes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11799476 2002 CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
11062482 2000 Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
10858660 2000 The EGF-CFC gene family in vertebrate development.
7747776 1995 Heterotaxia syndrome and autosomal dominant inheritance.