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Aliases for HCCS Gene

Aliases for HCCS Gene

  • Holocytochrome C Synthase 2 3
  • Microphthalamia With Linear Skin Defects 2 3
  • Holocytochrome C-Type Synthase 3 4
  • Cytochrome C Heme-Lyase 2 3
  • EC 4.4.1.17 4 64
  • MCOPS7 3 6
  • CCHL 3 4
  • Holocytochrome C Synthase (Cytochrome C Heme-Lyase) 2
  • Cytochrome C-Type Heme Lyase 3
  • MLS 3

External Ids for HCCS Gene

Previous Symbols for HCCS Gene

  • MLS

Summaries for HCCS Gene

Entrez Gene Summary for HCCS Gene

  • 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]

GeneCards Summary for HCCS Gene

HCCS (Holocytochrome C Synthase) is a Protein Coding gene. Diseases associated with HCCS include microphthalmia, syndromic 7 and congenital diaphragmatic hernia. Among its related pathways are Metabolism of porphyrins. GO annotations related to this gene include holocytochrome-c synthase activity.

UniProtKB/Swiss-Prot for HCCS Gene

  • Links covalently the heme group to the apoprotein of cytochrome c.

Gene Wiki entry for HCCS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HCCS Gene

Genomics for HCCS Gene

Genomic Location for HCCS Gene

Start:
11,111,286 bp from pter
End:
11,123,086 bp from pter
Size:
11,801 bases
Orientation:
Plus strand

Genomic View for HCCS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HCCS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HCCS Gene

Regulatory Elements for HCCS Gene

Proteins for HCCS Gene

  • Protein details for HCCS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53701-CCHL_HUMAN
    Recommended name:
    Cytochrome c-type heme lyase
    Protein Accession:
    P53701
    Secondary Accessions:
    • B3KUS1
    • Q502X8

    Protein attributes for HCCS Gene

    Size:
    268 amino acids
    Molecular mass:
    30602 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HCCS Gene

Proteomics data for HCCS Gene at MOPED

Selected DME Specific Peptides for HCCS Gene

Post-translational modifications for HCCS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HCCS Gene

Domains for HCCS Gene

Protein Domains for HCCS Gene

UniProtKB/Swiss-Prot:

CCHL_HUMAN
Family:
  • Belongs to the cytochrome c-type heme lyase family.:
    • P53701
Similarity:
  • Contains 2 HRM (heme regulatory motif) repeats.:
    • P53701
genes like me logo Genes that share domains with HCCS: view

No data available for Gene Families for HCCS Gene

Function for HCCS Gene

Molecular function for HCCS Gene

GENATLAS Biochemistry: holocytochrome C-type synthetase,putatively involved in electron transport pathway
UniProtKB/Swiss-Prot CatalyticActivity: Holocytochrome c = apocytochrome c + heme
UniProtKB/Swiss-Prot Function: Links covalently the heme group to the apoprotein of cytochrome c.

Enzyme Numbers (IUBMB) for HCCS Gene

Gene Ontology (GO) - Molecular Function for HCCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004408 holocytochrome-c synthase activity IEA --
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HCCS: view
genes like me logo Genes that share phenotypes with HCCS: view

miRNA for HCCS Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HCCS Gene

Localization for HCCS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HCCS Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HCCS Gene COMPARTMENTS Subcellular localization image for HCCS gene
Compartment Confidence
mitochondrion 4
extracellular 2
cytosol 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HCCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 11827457
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with HCCS: view

Pathways for HCCS Gene

SuperPathways for HCCS Gene

genes like me logo Genes that share pathways with HCCS: view

Pathways by source for HCCS Gene

1 KEGG pathway for HCCS Gene

Gene Ontology (GO) - Biological Process for HCCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009887 organ morphogenesis TAS 8661044
GO:0055114 oxidation-reduction process TAS 8661044
genes like me logo Genes that share ontologies with HCCS: view

Compounds for HCCS Gene

(2) HMDB Compounds for HCCS Gene

Compound Synonyms Cas Number PubMed IDs
Cytochrome C
9007-43-6
Heme
  • (protoporphyrinato)iron
14875-96-8
genes like me logo Genes that share compounds with HCCS: view

Transcripts for HCCS Gene

Unigene Clusters for HCCS Gene

Holocytochrome c synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HCCS Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for HCCS Gene

GeneLoc Exon Structure for
HCCS
ECgene alternative splicing isoforms for
HCCS

Expression for HCCS Gene

mRNA expression in normal human tissues for HCCS Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HCCS Gene

SOURCE GeneReport for Unigene cluster for HCCS Gene Hs.211571

genes like me logo Genes that share expressions with HCCS: view

Orthologs for HCCS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HCCS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HCCS 37
  • 100 (a)
OneToOne
LOC465489 36
  • 91.92 (n)
  • 89.18 (a)
cow
(Bos Taurus)
Mammalia HCCS 36
  • 84.95 (n)
  • 90.67 (a)
HCCS 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HCCS 36
  • 87.19 (n)
  • 92.54 (a)
HCCS 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hccs 36
  • 85.2 (n)
  • 85.45 (a)
Hccs 16
Hccs 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HCCS 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HCCS 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hccs 36
  • 85.82 (n)
  • 88.06 (a)
chicken
(Gallus gallus)
Aves HCCS 36
  • 75.41 (n)
  • 77.15 (a)
HCCS 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HCCS 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hccs-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hccs 36
  • 69.72 (n)
  • 70.99 (a)
Str.5948 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12440 36
zebrafish
(Danio rerio)
Actinopterygii Dr.4423 36
hccs 36
  • 67.05 (n)
  • 69.35 (a)
hccs 37
  • 67 (a)
OneToMany
hccsa 37
  • 63 (a)
OneToMany
hccsal 37
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cchl 37
  • 52 (a)
OneToOne
CG6022 38
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea cchl-1 37
  • 47 (a)
OneToOne
T06D8.6 38
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR154W 36
  • 51.07 (n)
  • 48.08 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYC3 39
CYC3 39
CYT2 36
  • 51.39 (n)
  • 42.86 (a)
CYT2 37
  • 38 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25894g 36
  • 53.98 (n)
  • 43.23 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08138 36
  • 50.52 (n)
  • 49.06 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.02c 36
  • 53.14 (n)
  • 48.82 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4806 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4216 37
  • 53 (a)
OneToOne
Species with no ortholog for HCCS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HCCS Gene

ENSEMBL:
Gene Tree for HCCS (if available)
TreeFam:
Gene Tree for HCCS (if available)

Paralogs for HCCS Gene

Selected SIMAP similar genes for HCCS Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HCCS: view

No data available for Paralogs for HCCS Gene

Variants for HCCS Gene

Sequence variations from dbSNP and Humsavar for HCCS Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2070163 Likely benign 11,114,949(+) CACTG(C/T)GGCTG reference, missense
rs7885793 -- 11,118,170(+) GGATC(A/G)TTGAT intron-variant
rs11797797 -- 11,123,492(+) ggggg(G/T)ggggg downstream-variant-500B
rs16986352 -- 11,119,779(+) CACAA(G/T)TGTTT intron-variant
rs34228583 -- 11,121,762(+) CTTTC(A/G)GCAGT synonymous-codon, reference

Relevant External Links for HCCS Gene

HapMap Linkage Disequilibrium report
HCCS
Human Gene Mutation Database (HGMD)
HCCS
Locus Specific Mutation Databases (LSDB)
HCCS

No data available for Structural Variations from Database of Genomic Variants (DGV) for HCCS Gene

Disorders for HCCS Gene

(1) OMIM Diseases for HCCS Gene (300056)

UniProtKB/Swiss-Prot

CCHL_HUMAN
  • 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:0000269 PubMed:17033964}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for HCCS Gene

(1) Novoseek inferred disease relationships for HCCS Gene

Disease -log(P) Hits PubMed IDs
microphthalmia 87.7 4

Relevant External Links for HCCS

GeneTests
HCCS
GeneReviews
HCCS
Genetic Association Database (GAD)
HCCS
genes like me logo Genes that share disorders with HCCS: view

Publications for HCCS Gene

  1. Cloning and characterization of a putative human holocytochrome c- type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). (PMID: 8661044) Schaefer L. … Zoghbi H.Y. (Genomics 1996) 3 4 23
  2. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. (PMID: 9674913) van den Veyver I.B. … Zoghbi H.Y. (Am. J. Med. Genet. 1998) 3 4 23
  3. Mutations of the mitochondrial holocytochrome c-type synthase in X- linked dominant microphthalmia with linear skin defects syndrome. (PMID: 17033964) Wimplinger I. … Kutsche K. (Am. J. Hum. Genet. 2006) 3 4 23
  4. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? (PMID: 17893649) Wimplinger I. … Kutsche K. (Mol. Vis. 2007) 3 23
  5. Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c. (PMID: 11827457) Schwarz Q.P. … Cox T.C. (Genomics 2002) 3 23

Products for HCCS Gene

Sources for HCCS Gene

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