UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UQCC3provided by HGNC
Official Full Name: ubiquinol-cytochrome c reductase complex assembly factor 3provided by HGNC
Primary source: HGNC:HGNC:34399
See related: Ensembl:ENSG00000204922 MIM:616097; AllianceGenome:HGNC:34399
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: MC3DN9; UNQ655; C11orf83; CCDS41658.1
Summary: Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in prostate (RPKM 5.0), colon (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62671673..62673686)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62661091..62663101)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62439145..62441158)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial UQCC3 Modulates Hypoxia Adaptation by Orchestrating OXPHOS and Glycolysis in Hepatocellular Carcinoma.
Title: Mitochondrial UQCC3 Modulates Hypoxia Adaptation by Orchestrating OXPHOS and Glycolysis in Hepatocellular Carcinoma.
AY358935 gene has an anti-VSV effect, and its anti-virus mechanism may involve the interferon-associated natural immune response.
Title: [The Anti-virus Effect of AY358935 Gene on Vesicular Stomatitis Virus and the Mechanism Study].
Mitochondrial C11orf83 is a potent antiviral protein independent of interferon production; and knockdown of either OAS3 or RNase L impaired the antiviral capability of C11orf83.
Title: Mitochondrial C11orf83 is a potent Antiviral Protein Independent of interferon production.
UQCC3 functions in complex III assembly and that the c.59T>A mutation has a causal role in complex III deficiency.
Title: A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
C11orf83 depletion in HeLa cells caused abnormal crista morphology, higher sensitivity to apoptosis, a decreased ATP level due to impaired respiration and subtle, but significant, changes in cardiolipin composition.
Title: C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization.
AY358935 is a predicted secretary protein with a small molecular weight that might have important functions in cellular proliferation and anti-viral innate immune regulation.
Title: [Bioinformatics analysis and function prediction of the novel gene AY358935].

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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 9 MedGen: C4015253 OMIM: 616111 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

RH36905 (e-PCR)
- UniSTS:87932

RH66004 (e-PCR)
- UniSTS:81062

D8S377 (e-PCR)
- UniSTS:55283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cardiolipin binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cristae formation	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex III assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex III assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ubiquinol-cytochrome-c reductase complex assembly factor 3

Names: UPF0723 protein C11orf83; assembly factor CBP4 homolog

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.