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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]
HCCS (Holocytochrome C Synthase) is a Protein Coding gene. Diseases associated with HCCS include Linear Skin Defects With Multiple Congenital Anomalies 1 and Sclerocornea. Among its related pathways are Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include holocytochrome-c synthase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004408 | holocytochrome-c synthase activity | TAS,IDA | 23150584 |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0016829 | lyase activity | IEA | -- |
GO:0020037 | heme binding | IDA | 23150584 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,IDA | 11827457 |
GO:0005743 | mitochondrial inner membrane | TAS,IEA | -- |
GO:0016020 | membrane | IEA,IDA | 23150584 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Porphyrin and chlorophyll metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009887 | animal organ morphogenesis | TAS | 8661044 |
GO:0018063 | cytochrome c-heme linkage | IDA | 23150584 |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
GO:0055114 | oxidation-reduction process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
heme | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HCCS 31 |
|
OneToOne | |
LOC465489 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | HCCS 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hccs 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hccs 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HCCS 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HCCS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HCCS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HCCS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HCCS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hccs 30 |
|
||
Str.5948 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | hccs-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hccs 30 31 |
|
OneToMany | |
hccsa 31 |
|
OneToMany | |||
hccsal 31 |
|
OneToMany | |||
Dr.4423 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12440 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6022 32 |
|
|
|
Cchl 31 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | T06D8.6 32 |
|
|
|
cchl-1 31 |
|
OneToOne | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F25894g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CYT2 30 31 |
|
OneToOne | |
CYC3 33 33 33 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR154W 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC24C9.02c 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4216 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08138 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4806 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
987889 | Likely Pathogenic: Linear skin defects with multiple congenital anomalies 1 | 11,117,320(+) |
T/TGTA NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup) |
INFRAME_INSERTION | |
rs121917888 | Pathogenic: Linear skin defects with multiple congenital anomalies 1 | 11,120,974(+) |
C/T NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) |
NONSENSE | |
rs121917889 | Pathogenic: Linear skin defects with multiple congenital anomalies 1. Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801] | 11,121,652(+) |
C/Tp.Arg217Cys NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) |
MISSENSE | |
rs138058070 | Benign: not provided | 11,114,923(+) |
C/T NM_005333.5(HCCS):c.189C>T (p.Tyr63=) |
SYNONYMOUS | |
rs1413276234 | Uncertain Significance: Linear skin defects with multiple congenital anomalies 1 | 11,114,933(+) |
C/A NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
linear skin defects with multiple congenital anomalies 1 |
|
|
sclerocornea |
|
|
microphthalmia |
|
|
microphthalmia, syndromic 13 |
|
|
orbital cyst |
|
|