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] See more...

Aliases for CYC1 Gene

Aliases for CYC1 Gene

  • Cytochrome C1 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Cytochrome C1 Subunit 3 4
  • Cytochrome C1, Heme Protein, Mitochondrial 3 4
  • Cytochrome B-C1 Complex Subunit 4 3 4
  • Complex III Subunit IV 3 4
  • Complex III Subunit 4 3 4
  • Cytochrome C-1 3 4
  • UQCR4 2 3
  • EC 7.1.1.8 4
  • MC3DN6 3
  • CYC1 5

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 Isolated Complex Iii Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity.

UniProtKB/Swiss-Prot Summary for CYC1 Gene

  • Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. Cytochrome c1 is a catalytic core subunit containing a c-type heme. It transfers electrons from the [2Fe-2S] iron-sulfur cluster of the Rieske protein to cytochrome c.

Gene Wiki entry for CYC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYC1 Gene

Genomics for CYC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYC1

Top Transcription factor binding sites by QIAGEN in the CYC1 gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1
  • YY1

Genomic Locations for CYC1 Gene

Latest Assembly
chr8:144,095,039-144,097,525
(GRCh38/hg38)
Size:
2,487 bases
Orientation:
Plus strand

Previous Assembly
chr8:145,149,979-145,152,428
(GRCh37/hg19 by Entrez Gene)
Size:
2,450 bases
Orientation:
Plus strand

chr8:145,149,930-145,152,428
(GRCh37/hg19 by Ensembl)
Size:
2,499 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
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1 (By similarity). The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).

    Three dimensional structures from OCA and Proteopedia for CYC1 Gene

neXtProt entry for CYC1 Gene

Post-translational modifications for CYC1 Gene

  • Ubiquitination at Lys177
  • Modification sites at PhosphoSitePlus

Other Protein References for CYC1 Gene

No data available for DME Specific Peptides for CYC1 Gene

Domains & Families for CYC1 Gene

Gene Families for CYC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for CYC1 Gene

InterPro:
Blocks:
  • Cytochrome C1 signature
ProtoNet:

Suggested Antigen Peptide Sequences for CYC1 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit (CY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08574

UniProtKB/Swiss-Prot:

CY1_HUMAN :
  • Belongs to the cytochrome c family.
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

UniProtKB/Swiss-Prot Function:
Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. Cytochrome c1 is a catalytic core subunit containing a c-type heme. It transfers electrons from the [2Fe-2S] iron-sulfur cluster of the Rieske protein to cytochrome c.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(III)cytochrome c](out) + a quinol = 2 [Fe(II)cytochrome c](out) + a quinone + 2 H(+)(out); Xref=Rhea:RHEA:11484, Rhea:RHEA-COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15378, ChEBI:CHEBI:24646, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:132124; EC=7.1.1.8; Evidence={ECO:0000250|UniProtKB:P07143};.
GENATLAS Biochemistry:
cytochrome c-1,subunit of the mitochondrial bc1 complex III of mitochondrial respiratory chain,oxidative phosphorylation(OXPHOS)

Enzyme Numbers (IUBMB) for CYC1 Gene

Phenotypes From GWAS Catalog for CYC1 Gene

Gene Ontology (GO) - Molecular Function for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17500595
GO:0009055 electron transfer activity IEA --
GO:0020037 heme binding IEA --
GO:0045153 electron transporter, transferring electrons within CoQH2-cytochrome c reductase complex activity IBA --
GO:0045155 electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity TAS --
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

miRNA for CYC1 Gene

miRTarBase miRNAs that target CYC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYC1

No data available for 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYC1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion TAS,HDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IBA 21873635
GO:0016020 membrane IEA,HDA 19946888
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0033762 response to glucagon IEA --
GO:0042776 mitochondrial ATP synthesis coupled proton transport IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYC1: view

No data available for SIGNOR curated interactions for CYC1 Gene

Drugs & Compounds for CYC1 Gene

(20) 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
(S)-famoxadone Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-Nonyl-4-quinolinol 1-oxide Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • 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

Drug products for research

Transcripts for CYC1 Gene

mRNA/cDNA for CYC1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYC1

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

Expression for CYC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CYC1 Gene



Protein tissue co-expression partners for CYC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYC1

SOURCE GeneReport for Unigene cluster for CYC1 Gene:

Hs.289271

Evidence on tissue expression from TISSUES for CYC1 Gene

  • Lung(4.9)
  • Skin(4.8)
  • Nervous system(4.8)
  • Liver(4.6)
  • Muscle(4)
  • Heart(3.8)
  • Pancreas(3.7)
  • Intestine(3.4)
  • Kidney(3.1)
  • Stomach(2.8)
  • Eye(2.8)
  • Adrenal gland(2.3)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CYC1: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CYC1 30 31
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYC1 30 31
  • 90.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYC1 30 31
  • 89.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyc1 30 17 31
  • 87.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyc1 30
  • 87.35 (n)
Oppossum
(Monodelphis domestica)
Mammalia CYC1 31
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYC1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC75973 30 30
  • 70.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia cyc1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii cyc1 30 31
  • 67.86 (n)
OneToOne
srnyz104 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8431 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006936 30
  • 65.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4769 30 31 32
  • 61.9 (n)
OneToMany
CG14508 31 32
  • 46 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cyc-1 30 31
  • 56.46 (n)
OneToOne
C54G4.8 32
  • 49 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR208W 30
  • 61.77 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16555g 30
  • 56.73 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYT1 30 31 33
  • 56.6 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G40810 30
  • 57.64 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0935700 30
  • 60.46 (n)
Os.6336 30
Barley
(Hordeum vulgare)
Liliopsida Hv.526 30
Wheat
(Triticum aestivum)
Liliopsida Ta.28376 30
Corn
(Zea mays)
Liliopsida Zm.788 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU09816 30
  • 61.65 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyt1 30
  • 58.5 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4648 30
Species where no ortholog for CYC1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYC1: view image

Paralogs for CYC1 Gene

No data available for Paralogs for CYC1 Gene

Variants for CYC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYC1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
870566 Uncertain Significance: Mitochondrial complex III deficiency, nuclear type 6 144,097,307(+) C/T
NM_001916.5(CYC1):c.949C>T (p.Arg317Trp)
MISSENSE
rs1021549129 Likely Benign: not specified 144,096,653(+) G/A
NM_001916.5(CYC1):c.681G>A (p.Leu227=)
SYNONYMOUS
rs11541475 Benign: not specified; not provided 144,095,198(+) T/G
NM_001916.5(CYC1):c.99T>G (p.Arg33=)
SYNONYMOUS
rs1278757401 Likely Benign: not provided 144,095,895(+) G/T
NM_001916.5(CYC1):c.192G>T (p.Leu64=)
SYNONYMOUS
rs144257411 Likely Benign: not specified; not provided 144,095,930(+) T/C
NM_001916.5(CYC1):c.227T>C (p.Met76Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv12431n54 CNV loss 21841781
dgv12433n54 CNV gain 21841781
dgv906n27 CNV loss 19166990
esv2738050 CNV deletion 23290073
esv2759651 CNV gain 17122850
esv29971 CNV loss 17803354
nsv1025071 CNV gain 25217958
nsv428208 CNV gain 18775914
nsv466014 CNV loss 19166990
nsv470249 CNV loss 18288195
nsv470250 CNV gain 18288195
nsv515809 CNV gain+loss 19592680
nsv612907 CNV gain+loss 21841781
nsv612914 CNV loss 21841781
nsv612915 CNV loss 21841781
nsv950015 CNV deletion 24416366

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)

Additional Variant Information for CYC1 Gene

Human Gene Mutation Database (HGMD)
CYC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYC1

SNP Genotyping and Copy Number Assays for research

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

Disorders for CYC1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CYC1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 6
  • mc3dn6
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
hyperglycemia
combined oxidative phosphorylation deficiency 3
  • coxpd3
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for CYC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (American journal of human genetics 2013) 3 4 74
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. (PMID: 10453733) Valnot I … Rötig A (Human genetics 1999) 3 4

Products for CYC1 Gene

Sources for CYC1 Gene