Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HCCS Gene

Aliases for HCCS Gene

  • Holocytochrome C Synthase 2 3 5
  • 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 63
  • CCHL 3 4
  • Holocytochrome C Synthase (Cytochrome C Heme-Lyase) 2
  • LSDMCA1 3
  • MCOPS7 3
  • MLS 3

External Ids for HCCS Gene

Previous HGNC Symbols for HCCS Gene

  • MLS

Previous GeneCards Identifiers for HCCS Gene

  • GC0XP010108
  • GC0XP009895
  • GC0XP010425
  • GC0XP010490
  • GC0XP010889
  • GC0XP011039
  • GC0XP008910

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 linear skin defects with multiple congenital anomalies 1 and sclerocornea. Among its related pathways are Porphyrin and chlorophyll metabolism. 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

Regulatory Elements for HCCS Gene

Promoters for HCCS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HCCS on UCSC Golden Path with GeneCards custom track

Genomic Location for HCCS Gene

Chromosome:
X
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

Genes around HCCS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HCCS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HCCS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HCCS

Domains & Families for HCCS Gene

Protein Domains for HCCS Gene

Suggested Antigen Peptide Sequences for HCCS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53701

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for HCCS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for HCCS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HCCS Gene

Mitochondrion inner membrane. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HCCS Gene COMPARTMENTS Subcellular localization image for HCCS gene
Compartment Confidence
mitochondrion 5
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:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with HCCS: view

Pathways & Interactions 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
genes like me logo Genes that share ontologies with HCCS: view

No data available for SIGNOR curated interactions for HCCS Gene

Drugs & Compounds for HCCS Gene

(1) Drugs for HCCS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
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

Protein differential expression in normal tissues from HIPED for HCCS Gene

This gene is overexpressed in Bone (43.6) and Breast (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HCCS: view

Protein tissue co-expression partners for HCCS Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HCCS Gene

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 LOC465489 35
  • 91.92 (n)
  • 89.18 (a)
HCCS 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HCCS 36
  • 88 (a)
OneToOne
HCCS 35
  • 84.95 (n)
  • 90.67 (a)
dog
(Canis familiaris)
Mammalia HCCS 35
  • 87.19 (n)
  • 92.54 (a)
HCCS 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hccs 36
  • 84 (a)
OneToOne
Hccs 16
Hccs 35
  • 85.2 (n)
  • 85.45 (a)
oppossum
(Monodelphis domestica)
Mammalia HCCS 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HCCS 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hccs 35
  • 85.82 (n)
  • 88.06 (a)
chicken
(Gallus gallus)
Aves HCCS 36
  • 76 (a)
OneToOne
HCCS 35
  • 75.41 (n)
  • 77.15 (a)
lizard
(Anolis carolinensis)
Reptilia HCCS 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hccs-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hccs 35
  • 69.72 (n)
  • 70.99 (a)
Str.5948 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12440 35
zebrafish
(Danio rerio)
Actinopterygii hccs 36
  • 67 (a)
OneToMany
hccsa 36
  • 63 (a)
OneToMany
hccsal 36
  • 60 (a)
OneToMany
Dr.4423 35
hccs 35
  • 67.05 (n)
  • 69.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6022 37
  • 53 (a)
Cchl 36
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T06D8.6 37
  • 58 (a)
cchl-1 36
  • 47 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR154W 35
  • 51.07 (n)
  • 48.08 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYT2 35
  • 51.39 (n)
  • 42.86 (a)
CYT2 36
  • 38 (a)
OneToOne
CYC3 38
CYC3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25894g 35
  • 53.98 (n)
  • 43.23 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08138 35
  • 50.52 (n)
  • 49.06 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.02c 35
  • 53.14 (n)
  • 48.82 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4806 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4216 36
  • 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

(1) 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
VAR_030823 Linear skin defects with multiple congenital anomalies 1 (LSDMCA1)
rs2070163 -- 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

Variation tolerance for HCCS Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HCCS Gene

HapMap Linkage Disequilibrium report
HCCS
Human Gene Mutation Database (HGMD)
HCCS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HCCS Gene

Disorders for HCCS Gene

MalaCards: The human disease database

(11) MalaCards diseases for HCCS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
linear skin defects with multiple congenital anomalies 1
  • microphthalmia, syndromic 7
sclerocornea
  • isolated congenital sclerocornea
46xy sex reversal 9
  • 46,xy sex reversal 9
linear skin defects with multiple congenital anomalies
  • linear skin defects with multiple congenital anomalies 2
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search HCCS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CCHL_HUMAN
  • Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801]: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are 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.

Relevant External Links for HCCS

Genetic Association Database (GAD)
HCCS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HCCS
genes like me logo Genes that share disorders with HCCS: view

No data available for Genatlas for HCCS Gene

Publications for HCCS Gene

  1. 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 67
  2. 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
  3. 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
  4. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. (PMID: 12444108) Prakash S.K. … Van Den Veyver I.B. (Hum. Mol. Genet. 2002) 2 3
  5. 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 23

Products for HCCS Gene

Sources for HCCS Gene

Back to Top

Content