• Gene id: 7386

Gene Summary

• Gene Symbol: UQCRFS1   Gene   UCSC   Ensembl
• Aliases: MC3DN10, RIP1, RIS1, RISP, UQCR5
• Gene name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
• Alternate names: cytochrome b-c1 complex subunit Rieske, mitochondrial, Rieske iron-sulfur protein, Rieske protein UQCRFS1, complex III subunit 5, cytochrome b-c1 complex subunit 5, epididymis secretory sperm binding protein, ubiquinol-cytochrome c reductase iron-sulfur subunit,
• Gene location: 19q12 (87220617: 87160102)     Exons: 11     NC_000004.12
• OMIM: 191327

Protein Summary

• Protein general information: P47985  
  • Name: Cytochrome b c1 complex subunit Rieske, mitochondrial (EC 7.1.1.8) (Complex III subunit 5) (Cytochrome b c1 complex subunit 5) (Rieske iron sulfur protein) (RISP) (Rieske protein UQCRFS1) (Ubiquinol cytochrome c reductase iron sulfur subunit) [Cleaved int
  • Length: 274  
  • Mass: 29668
• Sequence:

  MLSVASRSGPFAPVLSATSRGVAGALRPLVQATVPATPEQPVLDLKRPFLSRESLSGQAVRRPLVASVGLNVPAS
  VCYSHTDIKVPDFSEYRRLEVLDSTKSSRESSEARKGFSYLVTGVTTVGVAYAAKNAVTQFVSSMSASADVLALA
  KIEIKLSDIPEGKNMAFKWRGKPLFVRHRTQKEIEQEAAVELSQLRDPQHDLDRVKKPEWVILIGVCTHLGCVPI
  ANAGDFGGYYCPCHGSHYDASGRIRLGPAPLNLEVPTYEFTSDDMVIVG

• Structural information:
  • Protein Domains: (187..27-)
    (/note="Rieske-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00628"-)
  • Interpro: IPR037008  IPR011070  IPR017941  IPR036922  IPR014349   IPR005805  IPR004192  IPR015248  IPR006317  
  • Prosite: PS51296
  • PDB: 5XTE 5XTH 5XTI
  • PDBsum: 5XTE 5XTH 5XTI
  • STRING: ENSP00000306397
• Other Databases: GeneCards:  UQCRFS1  Malacards:  UQCRFS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005750	mitochondrial respiratory chain complex III	IBA	cellular component
GO:0006122	mitochondrial electron transport, ubiquinol to cytochrome c	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0008121	ubiquinol-cytochrome-c reductase activity	IBA	contributes to
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008121	ubiquinol-cytochrome-c reductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006122	mitochondrial electron transport, ubiquinol to cytochrome c	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005751	mitochondrial respiratory chain complex IV	IDA	cellular component
GO:0005750	mitochondrial respiratory chain complex III	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881