UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII [Homo sapiens (human)] - Gene

Summary

Official Symbol: UQCRQprovided by HGNC
Official Full Name: ubiquinol-cytochrome c reductase complex III subunit VIIprovided by HGNC
Primary source: HGNC:HGNC:29594
See related: Ensembl:ENSG00000164405 MIM:612080; AllianceGenome:HGNC:29594
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: QPC; QCR8; QP-C; UQCR7; MC3DN4
Summary: This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 47.2), colon (RPKM 46.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (132866642..132868847)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (133386396..133388600)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (132202334..132204539)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
Title: Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
QP-C protein gene expression involved in the development of hyperpigmentation.
Title: Identification of Genes Expressed in Hyperpigmented Skin Using Meta-Analysis of Microarray Data Sets.
Decreased electron Transport Complex III activity is associated with ulcerative colitis.
Title: Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
We thus suggest that a homozygous mutation in UQCRQ is associated with defective function of mitochondrial complex III, leading to a severe autosomal-recessive neurological phenotype.
Title: Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex III deficiency nuclear type 4 MedGen: C3554607 OMIM: 615159 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN72006 (e-PCR)
- UniSTS:396806

REN72007 (e-PCR)
- UniSTS:396807

REN72008 (e-PCR)
- UniSTS:396808

REN72009 (e-PCR)
- UniSTS:396809

REN72010 (e-PCR)
- UniSTS:396810

REN72011 (e-PCR)
- UniSTS:396811

REN72012 (e-PCR)
- UniSTS:396812

REN72013 (e-PCR)
- UniSTS:396813

REN72014 (e-PCR)
- UniSTS:396814

REN72015 (e-PCR)
- UniSTS:396815

REN72016 (e-PCR)
- UniSTS:396816

REN72017 (e-PCR)
- UniSTS:396817

REN72018 (e-PCR)
- UniSTS:396818

REN72019 (e-PCR)
- UniSTS:396819

REN72020 (e-PCR)
- UniSTS:396820

REN72021 (e-PCR)
- UniSTS:396821

REN72022 (e-PCR)
- UniSTS:396822

REN72023 (e-PCR)
- UniSTS:396823

REN72024 (e-PCR)
- UniSTS:396824

REN72025 (e-PCR)
- UniSTS:396825

D8S2279 (e-PCR)
- UniSTS:473907

ECD03675 (e-PCR)
- UniSTS:284755

ECD03951 (e-PCR)
- UniSTS:285031

D1S1425 (e-PCR)
- UniSTS:149621

RH41062 (e-PCR)
- UniSTS:91253

GDB:451577 (e-PCR)
- UniSTS:157316

ECD21997 (e-PCR)
- UniSTS:302988

stSG601584 (e-PCR)
- UniSTS:444370

STS-T76997 (e-PCR)
- UniSTS:57556

ECD13098 (e-PCR)
- UniSTS:294129

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in cerebellar Purkinje cell layer development	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus development	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	NAS Non-traceable Author Statement more info	PubMed
involved_in pons development	IEA Inferred from Electronic Annotation more info
involved_in pyramidal neuron development	IEA Inferred from Electronic Annotation more info
involved_in subthalamus development	IEA Inferred from Electronic Annotation more info
involved_in thalamus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of respiratory chain complex III	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome b-c1 complex subunit 8

Names: complex III subunit 8; complex III subunit VIII; low molecular mass ubiquinone-binding protein (9.5kD); ubiquinol-cytochrome c reductase complex 9.5 kDa protein; ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C; ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa

NP_055217.2

EC 7.1.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.