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Aliases for CYC1 Gene

Aliases for CYC1 Gene

  • Cytochrome C1 2 3
  • Cytochrome C-1 3 4 5
  • Ubiquinol-Cytochrome-C Reductase Complex Cytochrome C1 Subunit 3 4
  • Cytochrome B-C1 Complex Subunit 4 3 4
  • Complex III Subunit IV 3 4
  • Complex III Subunit 4 3 4
  • MC3DN6 3
  • UQCR4 3

External Ids for CYC1 Gene

Previous GeneCards Identifiers for CYC1 Gene

  • GC08U990014
  • GC08M145286
  • GC08P144925
  • GC08P145255
  • GC08P145221
  • GC08P145149
  • GC08P140425

Summaries for CYC1 Gene

Entrez Gene Summary for CYC1 Gene

  • This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]

GeneCards Summary for CYC1 Gene

CYC1 (Cytochrome C1) is a Protein Coding gene. Diseases associated with CYC1 include mitochondrial complex iii deficiency, nuclear type 6 and mitochondrial complex iii deficiency. Among its related pathways are Alzheimer's disease and Cardiac muscle contraction. GO annotations related to this gene include iron ion binding and electron carrier activity.

UniProtKB/Swiss-Prot for CYC1 Gene

  • This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain.

Gene Wiki entry for CYC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYC1 Gene

Genomics for CYC1 Gene

Regulatory Elements for CYC1 Gene

Enhancers for CYC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYC1 on UCSC Golden Path with GeneCards custom track

Promoters for CYC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYC1 Gene

Chromosome:
8
Start:
144,095,027 bp from pter
End:
144,097,527 bp from pter
Size:
2,501 bases
Orientation:
Plus strand

Genomic View for CYC1 Gene

Genes around CYC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYC1 Gene

Proteins for CYC1 Gene

  • Protein details for CYC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08574-CY1_HUMAN
    Recommended name:
    Cytochrome c1, heme protein, mitochondrial
    Protein Accession:
    P08574
    Secondary Accessions:
    • Q5U062
    • Q6FHS7

    Protein attributes for CYC1 Gene

    Size:
    325 amino acids
    Molecular mass:
    35422 Da
    Quaternary structure:
    • The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

neXtProt entry for CYC1 Gene

Proteomics data for CYC1 Gene at MOPED

Post-translational modifications for CYC1 Gene

Other Protein References for CYC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYC1 Gene

Domains & Families for CYC1 Gene

Protein Domains for CYC1 Gene

Suggested Antigen Peptide Sequences for CYC1 Gene

Graphical View of Domain Structure for InterPro Entry

P08574

UniProtKB/Swiss-Prot:

CY1_HUMAN :
  • Contains 1 cytochrome c domain.
  • Belongs to the cytochrome c family.
Domain:
  • Contains 1 cytochrome c domain.
Family:
  • Belongs to the cytochrome c family.
genes like me logo Genes that share domains with CYC1: view

Function for CYC1 Gene

Molecular function for CYC1 Gene

GENATLAS Biochemistry:
cytochrome c-1,subunit of the mitochondrial bc1 complex III of mitochondrial respiratory chain,oxidative phosphorylation(OXPHOS)
UniProtKB/Swiss-Prot Function:
This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain.

Gene Ontology (GO) - Molecular Function for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with CYC1: view
genes like me logo Genes that share phenotypes with CYC1: view

Human Phenotype Ontology for CYC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CYC1 Gene

miRTarBase miRNAs that target CYC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CYC1 Gene

Localization for CYC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYC1 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Intermembrane side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYC1 Gene COMPARTMENTS Subcellular localization image for CYC1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1
extracellular 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005743 mitochondrial inner membrane IEA,TAS --
genes like me logo Genes that share ontologies with CYC1: view

Pathways & Interactions for CYC1 Gene

genes like me logo Genes that share pathways with CYC1: view

Gene Ontology (GO) - Biological Process for CYC1 Gene

None

No data available for SIGNOR curated interactions for CYC1 Gene

Drugs & Compounds for CYC1 Gene

(18) Drugs for CYC1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-2 Experimental Pharma Target 0
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-NONYL-4-HYDROXYQUINOLINE N-OXIDE Experimental Pharma Target 0
5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE Experimental Pharma Target 0

(9) Additional Compounds for CYC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9

(1) ApexBio Compounds for CYC1 Gene

Compound Action Cas Number
Cytochrome c - pigeon (88-104) Triggers T Cell response 86579-06-8
genes like me logo Genes that share compounds with CYC1: view

Transcripts for CYC1 Gene

Unigene Clusters for CYC1 Gene

Cytochrome c-1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYC1 Gene

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

Relevant External Links for CYC1 Gene

GeneLoc Exon Structure for
CYC1
ECgene alternative splicing isoforms for
CYC1

Expression for CYC1 Gene

mRNA expression in normal human tissues for CYC1 Gene

mRNA differential expression in normal tissues according to GTEx for CYC1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8).

Protein differential expression in normal tissues from HIPED for CYC1 Gene

This gene is overexpressed in Heart (12.1), Brain (8.2), and Nasal epithelium (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYC1 Gene



SOURCE GeneReport for Unigene cluster for CYC1 Gene Hs.289271

genes like me logo Genes that share expression patterns with CYC1: view

Protein tissue co-expression partners for CYC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYC1 Gene

Orthologs for CYC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYC1 35
  • 90.56 (n)
  • 92.92 (a)
CYC1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYC1 35
  • 89.33 (n)
  • 92.31 (a)
CYC1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyc1 35
  • 87.59 (n)
  • 90.77 (a)
Cyc1 16
Cyc1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYC1 35
  • 99.38 (n)
  • 100 (a)
CYC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyc1 35
  • 87.35 (n)
  • 90.74 (a)
oppossum
(Monodelphis domestica)
Mammalia CYC1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYC1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75973 35
MGC75973 35
  • 70.76 (n)
  • 79.42 (a)
African clawed frog
(Xenopus laevis)
Amphibia cyc1-prov 35
zebrafish
(Danio rerio)
Actinopterygii cyc1 35
  • 67.86 (n)
  • 72.88 (a)
srnyz104 35
cyc1 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8431 35
fruit fly
(Drosophila melanogaster)
Insecta CG14508 37
  • 59 (a)
CG4769 37
  • 58 (a)
CG4769 35
  • 61.9 (n)
  • 57.84 (a)
CG14508 36
  • 46 (a)
OneToMany
CG4769 36
  • 55 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006936 35
  • 65.16 (n)
  • 65.84 (a)
worm
(Caenorhabditis elegans)
Secernentea C54G4.8 37
  • 49 (a)
cyc-1 35
  • 56.46 (n)
  • 51.84 (a)
cyc-1 36
  • 47 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR208W 35
  • 61.77 (n)
  • 56.73 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16555g 35
  • 56.73 (n)
  • 57.55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYT1 35
  • 56.6 (n)
  • 57.96 (a)
CYT1 36
  • 47 (a)
OneToOne
CYT1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40810 35
  • 57.64 (n)
  • 60 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.526 35
rice
(Oryza sativa)
Liliopsida Os.6336 35
Os01g0935700 35
  • 60.46 (n)
  • 61.04 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28376 35
corn
(Zea mays)
Liliopsida Zm.788 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4648 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09816 35
  • 61.65 (n)
  • 59.35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyt1 35
  • 58.5 (n)
  • 56.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for CYC1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CYC1 Gene

ENSEMBL:
Gene Tree for CYC1 (if available)
TreeFam:
Gene Tree for CYC1 (if available)

Paralogs for CYC1 Gene

No data available for Paralogs for CYC1 Gene

Variants for CYC1 Gene

Sequence variations from dbSNP and Humsavar for CYC1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_013631 -
rs7820984 - 144,095,929(+) TGGCC(A/G)TGGCT reference, missense
VAR_070847 Mitochondrial complex III deficiency, nuclear 6 (MC3DN6)
VAR_070848 Mitochondrial complex III deficiency, nuclear 6 (MC3DN6)
rs2070688 -- 144,097,007(+) GAGAA(C/T)AGCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYC1 Gene

Variant ID Type Subtype PubMed ID
dgv7935n71 CNV Loss 21882294
dgv7940n71 CNV Loss 21882294
nsv891766 CNV Loss 21882294
dgv906n27 CNV Loss 19166990
nsv470249 CNV Loss 18288195
dgv7948n71 CNV Loss 21882294
dgv7949n71 CNV Loss 21882294
dgv7950n71 CNV Loss 21882294
nsv515809 CNV Gain+Loss 19592680
nsv470250 CNV Gain 18288195
dgv7954n71 CNV Loss 21882294
nsv466014 CNV Loss 19166990
dgv7955n71 CNV Loss 21882294
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891809 CNV Loss 21882294
esv29971 CNV Loss 17803354
dgv2263e1 CNV Complex 17122850
dgv7956n71 CNV Loss 21882294
nsv891812 CNV Loss 21882294
esv2738050 CNV Deletion 23290073

Variation tolerance for CYC1 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYC1 Gene

HapMap Linkage Disequilibrium report
CYC1
Human Gene Mutation Database (HGMD)
CYC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYC1 Gene

Disorders for CYC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CYC1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 6
  • mitochondrial complex iii deficiency nuclear type 6
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
contagious pustular dermatitis
  • ecthyma contagiosum
- elite association - COSMIC cancer census association via MalaCards
Search CYC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CY1_HUMAN
  • Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]: An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal. {ECO:0000269 PubMed:23910460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYC1

Genetic Association Database (GAD)
CYC1
Human Genome Epidemiology (HuGE) Navigator
CYC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYC1
genes like me logo Genes that share disorders with CYC1: view

No data available for Genatlas for CYC1 Gene

Publications for CYC1 Gene

  1. Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. (PMID: 23910460) Gaignard P. … Rustin P. (Am. J. Hum. Genet. 2013) 3 4 67
  2. Assignment of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome bc1 complex (CYC1) to human chromosome 8q24.3. (PMID: 8188279) Duncan A.M. … Rozen R. (Genomics 1994) 3 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for CYC1 Gene

Sources for CYC1 Gene

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