Version 5.4
Homo sapiens Protein: FAM20C
Summary
InnateDB Protein IDBP-6059.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM20C
Protein Name family with sequence similarity 20, member C
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000322323
InnateDB Gene IDBG-6057 (FAM20C)
Protein Structure
UniProt Annotation
Function Calcium-binding kinase that phosphorylates the caseins and several secreted proteins implicated in biomineralization, including the secretory calcium binding phosphoproteins (SCPP). Preferencially phosphorylates its targets within the S-x-E/pS motif. {ECO:0000269PubMed:22582013}.
Subcellular Localization Secreted {ECO:0000250}.
Disease Associations Raine syndrome (RNS) [MIM:259775]: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. {ECO:0000269PubMed:17924334}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:15676076}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004674 protein serine/threonine kinase activity
GO:0005509 calcium ion binding
Biological Process
GO:0001501 skeletal system development
GO:0006468 protein phosphorylation
GO:0030501 positive regulation of bone mineralization
GO:0036179 osteoclast maturation
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway
GO:0045669 positive regulation of osteoblast differentiation
GO:0051174 regulation of phosphorus metabolic process
GO:0070166 enamel mineralization
GO:0071895 odontoblast differentiation
GO:0097187 dentinogenesis
Cellular Component
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR009581 Domain of unknown function DUF1193
PFAM PF06702
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IXL6
PhosphoSite PhosphoSite-Q8IXL6
TrEMBL
UniProt Splice Variant
Entrez Gene 56975
UniGene
RefSeq NP_064608
HUGO HGNC:22140
OMIM 611061
CCDS CCDS47522
HPRD 13298
IMGT
EMBL AB545605 AC093627 AC145676 AC187652 AF533706 AL390147 BC040074 BC087853 CH236966 CH471144
GenPept AAH40074 AAH87853 AAQ09019 BAM78534 CAB99089 EAL23705 EAW87149

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca