• Gene id: 3052

Gene Summary

• Gene Symbol: HCCS   Gene   UCSC   Ensembl
• Aliases: CCHL, LSDMCA1, MCOPS7, MLS
• Gene name: holocytochrome c synthase
• Alternate names: cytochrome c-type heme lyase, cytochrome c heme-lyase, holocytochrome c-type synthase, microphthalamia with linear skin defects,
• Gene location: Xp22.2 (11111331: 11123085)     Exons: 7     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been
• OMIM: 300056

Protein Summary

• Protein general information: P53701  
  • Name: Cytochrome c type heme lyase (CCHL) (EC 4.4.1.17) (Holocytochrome c type synthase)
  • Length: 268  
  • Mass: 30602
• Sequence:

  MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRGTAAEN
  KENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNI
  IRIHNQNNEQAWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYV
  IDYYDGGEVNKDYQFTILDVRPALDSLSAVWDRMKVAWWRWTS

• Structural information:
  • Interpro: IPR000511  
  • Prosite: PS00821 PS00822
  • STRING: ENSP00000326579
• Other Databases: GeneCards:  HCCS  Malacards:  HCCS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018063	cytochrome c-heme linkage	IBA	biological process
GO:0004408	holocytochrome-c synthase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0004408	holocytochrome-c synthase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004408	holocytochrome-c synthase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0004408	holocytochrome-c synthase activity	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Microphthalmia, syndromic	KEGG:H02170
Microphthalmia with linear skin defects syndrome	KEGG:H01904
Microphthalmia, syndromic	KEGG:H02170
Microphthalmia with linear skin defects syndrome	KEGG:H01904
Microphthalmia	PMID:17033964
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)