Version 5.4
Homo sapiens Protein: C12orf57
Summary
InnateDB Protein IDBP-15715.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C12orf57
Protein Name chromosome 12 open reading frame 57
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000229281
InnateDB Gene IDBG-15713 (C12orf57)
Protein Structure
UniProt Annotation
Function In brain, may be required for corpus callusum development. {ECO:0000269PubMed:23453666}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:23453666}.
Disease Associations Temtamy syndrome (TEMTYS) [MIM:218340]: A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. {ECO:0000269PubMed:23453665, ECO:0000269PubMed:23453666, ECO:0000269PubMed:23633300}. Note=The disease is caused by mutations affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.
Tissue Specificity Ubiquitously expressed, with higher expression in lung and fetal brain. {ECO:0000269PubMed:23453666}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q99622
PhosphoSite PhosphoSite-Q99622
TrEMBL U3KQ85
UniProt Splice Variant
Entrez Gene 113246
UniGene
RefSeq NP_612434
HUGO HGNC:29521
OMIM 615140
CCDS CCDS8571
HPRD 13609
IMGT
EMBL AK311912 BC009925 CH471116 U47924
GenPept AAB51329 AAH09925 BAG34853 EAW88705

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