Homo sapiens Gene: CFC1B
Summary
InnateDB Gene IDBG-69888.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFC1B
Gene Name cripto, FRL-1, cryptic family 1B
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000152093
Encoded Proteins
cripto, FRL-1, cryptic family 1B
cripto, FRL-1, cryptic family 1B
cripto, FRL-1, cryptic family 1B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:130521197-130528604
Strand Forward strand
Band q21.1
Transcripts
ENST00000281882 ENSP00000281882
ENST00000619050 ENSP00000483368
ENST00000620207 ENSP00000480160
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007369 gastrulation
Cellular Component
GO:0005576 extracellular region
Orthologs
No orthologs found for this gene
Cross-References
SwissProt P0CG36
TrEMBL
UniProt Splice Variant
Entrez Gene 653275
UniGene Hs.503733 Hs.567542
RefSeq NM_001079530 XM_005263737 XM_005263738
HUGO HGNC:33983
OMIM 605194
CCDS CCDS33286
HPRD
IMGT
EMBL AC013269
GenPept AAY14955
RNA Seq Atlas 55997 653275