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Gene: HCCS (holocytochrome c synthase) Homo sapiens
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Symbol: HCCS
Name: holocytochrome c synthase
Description: 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 found for this gene. [provided by RefSeq, Jan 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCHL; cytochrome c heme-lyase; cytochrome c-type heme lyase; DKFZp779I1858; holocytochrome c-type synthase; LSDMCA1; MCOPS7; microphthalamia with linear skin defects; MLS
Orthologs:
Mus musculus (house mouse) : Hccs (holocytochrome c synthetase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hccs (holocytochrome c synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102006165 (cytochrome c-type heme lyase)
Pan paniscus (bonobo/pygmy chimpanzee) : LOC100982890 (cytochrome c-type heme lyase)
Canis lupus familiaris (dog) : HCCS (holocytochrome c synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101978619 (cytochrome c-type heme lyase)
Sus scrofa (pig) : LOC100524598 (cytochrome c-type heme lyase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X11,111,286 - 11,123,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,129,406 - 11,141,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,039,373 - 11,051,122 (+)NCBINCBI36hg18NCBI36
Build 34X10,889,137 - 10,899,655NCBI
CeleraX15,256,857 - 15,268,657 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,910,155 - 8,921,955 (+)NCBIHuRef
CHM1_1X11,159,827 - 11,171,630 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Molecular Pathway Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HCCS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1352684
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.