Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1537
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYC1
Synonyms (NCBI Gene) Gene synonyms aliases
MC3DN6, UQCR4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC3DN6
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary of gene provided in NCBI Entrez 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 c
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777041 G>T Pathogenic Missense variant, coding sequence variant
rs587777042 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040321 hsa-miR-615-3p CLASH 23622248
MIRT735397 hsa-miR-483-3p qRT-PCR 33219048
MIRT919929 hsa-miR-1207-5p CLIP-seq
MIRT919930 hsa-miR-1245b-3p CLIP-seq
MIRT919931 hsa-miR-1587 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
E2F6 Unknown 10998368
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17500595, 32814053
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005750 Component Mitochondrial respiratory chain complex III IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123980 2579 ENSG00000179091
Protein
UniProt ID P08574
Protein name Cytochrome c1, heme protein, mitochondrial (EC 7.1.1.8) (Complex III subunit 4) (Complex III subunit IV) (Cytochrome b-c1 complex subunit 4) (Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit) (Cytochrome c-1)
Protein 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 complex
PDB 5XTE , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02167 Cytochrom_C1 96 314 Cytochrome C1 family Family
Sequence
Sequence length 325
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Liver failure Liver Failure, Acute rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
Mitochondrial complex deficiency MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863
View all (210 more)
23910460
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Complex Deficiency mitochondrial complex III deficiency nuclear type 6, mitochondrial complex III deficiency GenCC
Mitochondrial Diseases mitochondrial disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acute Disease Associate 39596565
Adenocarcinoma of Lung Associate 38017020
Alzheimer Disease Associate 22016602
Aortic Aneurysm Abdominal Associate 27157464
Breast Neoplasms Associate 27239088
Carcinoma Ductal Breast Associate 28394473
Carcinoma Hepatocellular Associate 37594310
Carcinoma Intraductal Noninfiltrating Associate 28394473
Huntington Disease Associate 32302684
Hyperglycemia Associate 23910460