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UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X [ Homo sapiens (human) ]

Gene ID: 29796, updated on 5-Mar-2024

Summary

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Official Symbol
UQCR10provided by HGNC
Official Full Name
ubiquinol-cytochrome c reductase, complex III subunit Xprovided by HGNC
Primary source
HGNC:HGNC:30863
See related
Ensembl:ENSG00000184076 MIM:610843; AllianceGenome:HGNC:30863
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
QCR9; UCRC; HSPC051; HSPC119; HSPC151; UCCR7.2
Summary
UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in heart (RPKM 65.5), colon (RPKM 45.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q12.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29767369..29770413)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30230748..30233792)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30163358..30166402)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30101159-30101822 Neighboring gene MPRA-validated peak4478 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30117301-30118091 Neighboring gene CABP7 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30133259-30134112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30143413-30144160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30144161-30144906 Neighboring gene calcium binding protein 7 Neighboring gene zinc finger matrin-type 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30162231-30162880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30162881-30163530 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:30179115-30179288 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30194678-30195178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30195179-30195679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30196571-30197566 Neighboring gene activating signal cointegrator 1 complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18820 Neighboring gene Sharpr-MPRA regulatory region 3108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13597 Neighboring gene Sharpr-MPRA regulatory region 2042 Neighboring gene RNA, U6 small nuclear 331, pseudogene Neighboring gene myotubularin related protein 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing. Guzy RD, et al. Cell Metab, 2005 Jun. PMID 16054089
  2. Novel fusion genes and chimeric transcripts in ependymal tumors. Olsen TK, et al. Genes Chromosomes Cancer, 2016 Dec. PMID 27401149
  3. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. Schägger H, et al. Methods Enzymol, 1995. PMID 8592474
  4. The cardiac-enriched microprotein mitolamban regulates mitochondrial respiratory complex assembly and function in mice. Makarewich CA, et al. Proc Natl Acad Sci U S A, 2022 Feb 8. PMID 35101990, Free PMC Article
  5. Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex. Iwata S, et al. Science, 1998 Jul 3. PMID 9651245

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reciprocal fusion gene involving UQCR10 and C1orf194 is associated with spinal ependymoma.
    Title: Novel fusion genes and chimeric transcripts in ependymal tumors.
  2. Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
    Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Functionality of complex III of the mitochondrial electron transport chain is required for the hypoxic stabilization of HIF-1 alpha and HIF-2 alpha
    Title: Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquinol-cytochrome-c reductase activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular respiration NAS
Non-traceable Author Statement
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 NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in proton transmembrane transport 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
  
part_of mitochondrial respiratory chain complex III IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex III IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
cytochrome b-c1 complex subunit 9
Names
cytochrome C1, nonheme 7kDa protein
cytochrome c1 non-heme 7 kDa protein
ubiquinol-cytochrome c reductase complex (7.2 kD)
ubiquinol-cytochrome c reductase complex 7.2 kDa protein
ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa

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.

mRNA and Protein(s)

  1. NM_001003684.2 → NP_001003684.1  cytochrome b-c1 complex subunit 9 isoform b

    See identical proteins and their annotated locations for NP_001003684.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant uses an alternate splice site at the 3' end of the first exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BU935406, CA311834, CB999839, CD674029
    Consensus CDS
    CCDS46681.1
    UniProtKB/Swiss-Prot
    Q9UDW1
    Related
    ENSP00000384962.3, ENST00000401406.3
    Conserved Domains (1) summary
    pfam05365
    Location:10 → 50
    UCR_UQCRX_QCR9; Ubiquinol-cytochrome C reductase, UQCRX/QCR9 like

  2. NM_013387.4 → NP_037519.2  cytochrome b-c1 complex subunit 9 isoform a

    See identical proteins and their annotated locations for NP_037519.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer and predominant isoform (a).
    Source sequence(s)
    BI754905, CA311834, CB999839
    Consensus CDS
    CCDS46680.1
    UniProtKB/Swiss-Prot
    B5MCM5, Q9T2V6, Q9UDW1
    Related
    ENSP00000332887.6, ENST00000330029.6
    Conserved Domains (1) summary
    pfam05365
    Location:10 → 60
    UCR_UQCRX_QCR9; Ubiquinol-cytochrome C reductase, UQCRX/QCR9 like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    29767369..29770413
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    30230748..30233792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UDW1.3 GenPept UniProtKB/Swiss-Prot:Q9UDW1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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