UQCC2

Ubiquinol-cytochrome c reductase complex assembly factor 2 is a protein that in humans is encoded by the UQCC2 gene. Located in the mitochondrial nucleoid, this protein is a complex III assembly factor, playing a role in cytochrome b biogenesis along with the UQCC1 protein.[5] It regulates insulin secretion and mitochondrial ATP production and oxygen consumption.[6][7] In the sole recorded case, a mutation in the UQCC2 gene caused Complex III deficiency, characterized by intrauterine growth retardation, neonatal lactic acidosis, and renal tubular dysfunction.[8]

UQCC2
Identifiers
AliasesUQCC2, C6orf125, Cbp6, M19, MNF1, bA6B20.2, ubiquinol-cytochrome c reductase complex assembly factor 2, C6orf126, MC3DN7
External IDsOMIM: 614461 MGI: 1914517 HomoloGene: 12105 GeneCards: UQCC2
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6p21.31Start33,694,293 bp[1]
End33,711,727 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

84300

67267

Ensembl

ENSG00000137288

ENSMUSG00000024208

UniProt

Q9BRT2

Q9CQY6

RefSeq (mRNA)

NM_032340

NM_026063
NM_001364944

RefSeq (protein)

NP_115716

NP_080339
NP_001351873

Location (UCSC)Chr 6: 33.69 – 33.71 MbChr 17: 27.12 – 27.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Structure

The UQCC2 gene is located on the p arm of chromosome 6 in position 21.31 and spans 14,990 base pairs.[5] The gene produces a 14.9 kDa protein composed of 126 amino acids.[9][10] This protein has no homologous domains with other known proteins. It is associated with the mitochondrial nucleoid, likely located in the peripheral region.[7] This protein's distribution pattern is similar to other components of the mitochondrial nucleoid, like mtSSB and PHB1/PHB2.[11]

Function

This gene encodes a nucleoid protein localized to the mitochondrial inner membrane and sublocalized to the mitochondrial matrix.[11] The encoded protein permissively regulates insulin secretion in pancreatic beta cells, positively regulates mitochondrial ATP production and oxygen consumption, and is involved in late skeletal muscle differentiation through modulation of mitochondrial respiratory chain activity.[7] This protein is required for the assembly of the Complex III. Expression of this protein is decreased in cells with low mtDNA.[11]

Clinical Significance

In the sole recorded case, a homozygous mutation in intron 2 of the UQCC2 gene caused a splicing disruption; the patient presented with symptoms of nuclear type 7 Complex III deficiency, including neonatal lactic acidosis, renal tubulopathy, and severe intrauterine growth retardation. Additional clinical features included a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.[6] Additionally, the patient had decreased levels of UQCC1.[8]

Interactions

This protein interacts with UQCC1.[6]

References
  1. GRCh38: Ensembl release 89: ENSG00000137288 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024208 - 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.
  5. "Entrez Gene: Ubiquinol-cytochrome c reductase complex assembly factor 2". Retrieved 2018-08-02. This article incorporates text from this source, which is in the public domain.
  6. "UQCC2 - Ubiquinol-cytochrome-c reductase complex assembly factor 2 precursor - Homo sapiens (Human) - UQCC2 gene & protein". www.uniprot.org. Retrieved 2018-08-03. This article incorporates text from this source, which is in the public domain.
  7. Cambier L, Rassam P, Chabi B, Mezghenna K, Gross R, Eveno E, Auffray C, Wrutniak-Cabello C, Lajoix AD, Pomiès P (2012-02-20). "M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity". PLOS ONE. 7 (2): e31815. Bibcode:2012PLoSO...731815C. doi:10.1371/journal.pone.0031815. PMC 3282743. PMID 22363741.
  8. Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR (2013-12-26). "Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression". PLOS Genetics. 9 (12): e1004034. doi:10.1371/journal.pgen.1004034. PMC 3873243. PMID 24385928.
  9. Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  10. "UQCC2 - Ubiquinol-cytochrome-c reductase complex assembly factor 2". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  11. Sumitani M, Kasashima K, Ohta E, Kang D, Endo H (November 2009). "Association of a novel mitochondrial protein M19 with mitochondrial nucleoids". Journal of Biochemistry. 146 (5): 725–32. doi:10.1093/jb/mvp118. PMID 19643811.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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