UQCC3 information

UQCC3
Identifiers
Aliases	UQCC3, C11orf83, CCDS41658.1, UNQ655, MC3DN9, ubiquinol-cytochrome c reductase complex assembly factor 3
External IDs	OMIM: 616097 MGI: 2147553 HomoloGene: 84061 GeneCards: UQCC3
Gene location (Human)
Chr.	Chromosome 11 (human)
End	62,673,686 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	8,858,287 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; palpebral conjunctiva; ; parotid gland; ; pancreatic ductal cell; ; gastrocnemius muscle; ; vastus lateralis muscle; ; kidney; ; body of stomach; ; amniotic fluid; ; right lobe of liver;
	Top expressed in
	yolk sac; ; morula; ; triceps brachii muscle; ; proximal tubule; ; temporal muscle; ; quadriceps femoris muscle; ; sternocleidomastoid muscle; ; brown adipose tissue; ; left lobe of liver; ; renal corpuscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	phosphatidic acid binding; cardiolipin binding;
Cellular component	mitochondrial respiratory chain complex III; mitochondrial inner membrane; integral component of membrane; membrane; mitochondrion; integral component of mitochondrial inner membrane;
Biological process	mitochondrial electron transport, ubiquinol to cytochrome c; cristae formation; ATP biosynthetic process; mitochondrial respiratory chain complex III assembly;
	Sources:Amigo / QuickGO
Orthologs
	790955
	107197
	ENSG00000204922
	ENSMUSG00000071654
	Q6UW78
	Q8K2T4
	NM_001085372
	NM_001160356
	NP_001078841
	NP_001153828
	Wikidata
View/Edit Human	View/Edit Mouse

Ubiquinol-cytochrome c reductase complex assembly factor 3 is a protein that in humans is encoded by the UQCC3 gene.^[5] Located in mitochondria, this protein is involved in the assembly of mitochondrial Complex III, stabilizing supercomplexes containing Complex III.^[6] Mutations in the UQCC3 gene cause Complex III deficiency with symptoms of hypoglycemia, hypotonia, lactic acidosis, and developmental delays.^[7] This protein plays an important role as an antiviral factor, bolstering the ability of cells to inhibit viral replication, independent of interferon production.^[8] The UQCC3 protein can be cleaved by OMA1 metalloprotease during mitochondrial depolarization, targeting the cell for apoptosis. Depletion of this protein alters cardiolipin composition, causing cellular and mitochondrial defects.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000204922 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000071654 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Ubiquinol-cytochrome c reductase complex assembly factor 3". Retrieved 2018-08-03.
^ ^a ^b Desmurs M, Foti M, Raemy E, Vaz FM, Martinou JC, Bairoch A, Lane L (April 2015). "C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization". Molecular and Cellular Biology. 35 (7): 1139–56. doi:10.1128/MCB.01047-14. PMC 4355537. PMID 25605331.
^ Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA (December 2014). "A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability". Human Molecular Genetics. 23 (23): 6356–65. doi:10.1093/hmg/ddu357. PMID 25008109.
^ Yang Y, Xiong S, Cai B, Luo H, Dong E, Li Q, Ji G, Zhao C, Wen Y, Wei Y, Yang H (April 2017). "Mitochondrial C11orf83 is a potent Antiviral Protein Independent of interferon production". Scientific Reports. 7: 44303. Bibcode:2017NatSR...744303Y. doi:10.1038/srep44303. PMC 5394693. PMID 28418037.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000204922 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000071654 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Ubiquinol-cytochrome c reductase complex assembly factor 3". Retrieved 2018-08-03.

[Desmurs_2015-6] Desmurs M, Foti M, Raemy E, Vaz FM, Martinou JC, Bairoch A, Lane L (April 2015). "C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization". Molecular and Cellular Biology. 35 (7): 1139–56. doi:10.1128/MCB.01047-14. PMC 4355537. PMID 25605331.

[Wanschers_2014-7] Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA (December 2014). "A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability". Human Molecular Genetics. 23 (23): 6356–65. doi:10.1093/hmg/ddu357. PMID 25008109.

[Yang_2017-8] Yang Y, Xiong S, Cai B, Luo H, Dong E, Li Q, Ji G, Zhao C, Wen Y, Wei Y, Yang H (April 2017). "Mitochondrial C11orf83 is a potent Antiviral Protein Independent of interferon production". Scientific Reports. 7: 44303. Bibcode:2017NatSR...744303Y. doi:10.1038/srep44303. PMC 5394693. PMID 28418037.

UQCC3 information

and 3 Related for: UQCC3 information

UQCC3

Chromosome 11

Mitochondrial myopathy