Version 5.4
Homo sapiens Protein: HCCS
Summary
InnateDB Protein IDBP-43466.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HCCS
Protein Name holocytochrome c synthase
Synonyms CCHL; MCOPS7; MLS;
Species Homo sapiens
Ensembl Protein ENSP00000370139
InnateDB Gene IDBG-43460 (HCCS)
Protein Structure
UniProt Annotation
Function Links covalently the heme group to the apoprotein of cytochrome c. {ECO:0000250}.
Subcellular Localization Mitochondrion inner membrane {ECO:0000305}.
Disease Associations Microphthalmia, syndromic, 7 (MCOPS7) [MIM:309801]: A disease characterized by unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, mental retardation, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:17033964}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004408 holocytochrome-c synthase activity
GO:0046872 metal ion binding
Biological Process
GO:0009887 organ morphogenesis
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
Protein Structure and Domains
PDB ID
InterPro IPR000511 Cytochrome c/c1 haem-lyase
PFAM PF01265
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P53701
PhosphoSite PhosphoSite-P53701
TrEMBL A0A024RBY9
UniProt Splice Variant
Entrez Gene 3052
UniGene Hs.211571
RefSeq
HUGO HGNC:4837
OMIM 300056
CCDS CCDS14139
HPRD 02085
IMGT
EMBL AF053010 AF053011 AF053012 AF053013 AF053014 AF053015 AK097815 BC001691 BC095455 CH471074 U36787
GenPept AAB19007 AAC35274 AAH01691 AAH95455 BAG53533 EAW98783 EAW98784 EAW98785

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