Version 5.4
| Homo sapiens Gene: CFC1 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-69910.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | CFC1 | ||||||||
| Gene Name | cripto, FRL-1, cryptic family 1 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000136698 | ||||||||
| Encoded Proteins |
cripto, FRL-1, cryptic family 1
cripto, FRL-1, cryptic family 1
cripto, FRL-1, cryptic family 1
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| 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] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 2:130592168-130599575 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | q21.1 | ||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Mus musculus
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Gene ID
Gene Order
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| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Regulation of signaling by NODAL pathway
Signaling by NODAL pathway
Developmental Biology pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | |||||||||
| RefSeq | NM_001270420 NM_001270421 NM_032545 | ||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | CCDS2162 CCDS74573 CCDS74574 | ||||||||
| HPRD | 05548 | ||||||||
| IMGT | |||||||||
| EMBL | |||||||||
| GenPept | |||||||||
| RNA Seq Atlas | |||||||||