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FLASH GENE
Symbol HCCS contributors: mct/npt - updated : 11-04-2015
HGNC name holocytochrome c synthase (cytochrome c heme-lyase)
HGNC id 4837
Corresponding disease
MLS microphthalmia linear skin defects
Location Xp22.2      Physical location : 11.129.405 - 11.141.202
Synonym name cytochrome c heme-lyase
Synonym symbol(s) CCHL, CYT2, DKFZp779I1858, MCOPS7
EC.number 4.4.1.17
DNA
TYPE functioning gene
STRUCTURE 11.78 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - DXS6836 - DXS1373 - HCCS - DXS7543 - DXS22F5 - cen
Authors Schaefer (96)
Physical map
VCX-2r Xp22.32 variable charge protein on X with two repeats KAL1 Xp22.32 Kallmann syndrome 1 sequence FAM9A Xp22.32 family with sequence similarity 9, member A LOC392426 X similar to Nucleolar phosphoprotein p130 (Nucleolar 130 kDa protein) (140 kDa nucleolar phosphoprotein) (Nopp140) (Nucleolar and coiled-body phosphoprotein 1) FLJ40182 Xp22.32 hypothetical protein FLJ40182 LOC392427 X similar to chromodomain protein, Y chromosome-like isoform a; CDY-like, autosomal; testis-specific chromodomain Y-like protein TBL1X Xp22.3 transducin (beta)-like 1X-linked GPR143 APXL Xp22.31 apical protein-like (Xenopus laevis) KIAA1280 Xp22.32 KIAA1280 protein CLCN4 Xp22.31 chloride channel 4 MID1 Xp22.3 midline 1 (Opitz/BBB syndrome) HCCS Xp22.3-p22.2 holocytochrome c synthase (cytochrome c heme-lyase) ARHGAP6 Xp22.31 Rho GTPase activating protein 6 AMELX Xp22.31 amelogenin (X chromosome, amelogenesis imperfecta 1) LOC139952 Xp22.31 similar to LIM domain kinase 2 (LIMK-2) MSL3L1 Xp22.3 male-specific lethal 3-like 1 (Drosophila) KIAA0316 Xp22.2 male-specific lethal 3-like 1 (Drosophila) PRPS2 Xp22.31 phosphoribosyl pyrophosphate synthetase 2 MRPL35P4 Xq22.31 phosphoribosyl pyrophosphate synthetase 2 TLR7 Xp22.3 toll-like receptor 7 TLR8 Xp22.3 toll-like receptor 8 TMSB4X Xq21.3-q22 thymosin, beta 4, X chromosome FAM9C Xp22.32 family with sequence similarity 9, member C LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1 EGFL6 Xp22.3 EGF-like-domain, multiple 6 MGC17403 Xp22.31 hypothetical protein MGC17403 RAB9A Xp22.2 RAB9A, member RAS oncogene family SEDL Xp22.31 spondyloepiphyseal dysplasia, late OFD1 Xp22.2-p22.3 oral-facial-digital syndrome 1 GPM6B Xp22.2 glycoprotein M6B
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2365 - 268 - 1998 9674913
7 - 2307 - 268 - 1998 9674913
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Digestiveintestinelarge intestinecolon highly
Endocrineparathyroid   highly
Lymphoid/Immunelymph node   highly
 tonsils   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two heme regulatory motifs (HRM)
  • HOMOLOGY
    interspecies homolog to murine Hccs
    Homologene
    FAMILY
  • cytochrome c-type heme lyase family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • putatively involved in electron transport pathway
  • linking covalently the heme group to the apoprotein of cytochrome C
  • catalysing covalent attachment of the haem cofactor to two (or rarely one) cysteine residues arranged in a haem c-binding motif (Hartshorne 2006)
  • plays an essential role in the import of the apocytochrome c from the cytosol to the mitochondrion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • binds heme and apocytochrome c substrate to catalyze this attachment, subsequently releasing holocytochrome c for proper folding to its native structure
  • protein
  • heme is the central molecule mediating interaction between HCCS and apocytochrome c
  • binding of HCCS to its cognate cytochrome c in the ternary complex is surprisingly stable
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MLS
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS