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UQCRH ubiquinol-cytochrome c reductase hinge protein [ Homo sapiens (human) ]

Gene ID: 7388, updated on 28-Oct-2024

Summary

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Official Symbol
UQCRHprovided by HGNC
Official Full Name
ubiquinol-cytochrome c reductase hinge proteinprovided by HGNC
Primary source
HGNC:HGNC:12590
See related
Ensembl:ENSG00000173660 MIM:613844; AllianceGenome:HGNC:12590
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
QCR6; UQCR8; MC3DN11
Summary
Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in heart (RPKM 164.7), colon (RPKM 117.2) and 25 other tissues See more
Orthologs
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Genomic context

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See UQCRH in Genome Data Viewer
Location:
1p33
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46303698..46316776)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46180920..46193993)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46769370..46782448)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 838 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46683827-46684328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46685102-46685602 Neighboring gene leucine rich adaptor protein 1 Neighboring gene MPRA-validated peak204 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 839 Neighboring gene RAD54 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46750956-46751580 Neighboring gene leucine rich repeat containing 41 Neighboring gene NANOG hESC enhancer GRCh37_chr1:46764257-46764758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46766628-46767210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46767211-46767793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46768959-46769542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46769543-46770124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46794429-46795157 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:46795158-46795887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46795888-46796616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46797347-46798076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46804880-46805679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1000 Neighboring gene NOP2/Sun RNA methyltransferase 4 Neighboring gene MPRA-validated peak205 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:46837735-46837899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46859877-46860390 Neighboring gene fatty acid amide hydrolase

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 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. An extremely acidic amino-terminal presequence of the precursor for the human mitochondrial hinge protein. Ohta S, et al. FEBS Lett, 1987 Dec 21. PMID 2826252
  2. Elevated expression of the human mitochondrial hinge protein gene in cancer. Liu AY, et al. Cancer Res, 1993 Jun 1. PMID 7684318
  3. UQCRH gene encoding mitochondrial Hinge protein is interrupted by a translocation in a soft-tissue sarcoma and epigenetically inactivated in some cancer cell lines. Modena P, et al. Oncogene, 2003 Jul 17. PMID 12881716
  4. The mitochondrial hinge protein, UQCRH, is a novel prognostic factor for hepatocellular carcinoma. Park ER, et al. Cancer Med, 2017 Apr. PMID 28332314, Free PMC Article
  5. UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells. Luo Y, et al. Sci Rep, 2020 Sep 14. PMID 32929120, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis.
    Title: Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis.
  2. Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer.
    Title: Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer.
  3. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
    Title: Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
  4. UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells.
    Title: UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells.
  5. Results show that UQCRH is overexpressed in hepatocellular carcinoma.
    Title: The mitochondrial hinge protein, UQCRH, is a novel prognostic factor for hepatocellular carcinoma.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  7. These data provide preliminary evidence of the inactivation of UQCRH gene in cancer either by structural rearrangements or epigenetic mechanisms.
    Title: UQCRH gene encoding mitochondrial Hinge protein is interrupted by a translocation in a soft-tissue sarcoma and epigenetically inactivated in some cancer cell lines.
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

Associated conditions

Description Tests
Mitochondrial complex 3 deficiency, nuclear type 11
MedGen: C5774259 OMIM: 620137 GeneReviews: Not available
not available

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ubiquinol-cytochrome c reductase hinge protein (UQCRH) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • MGC111572

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in aerobic respiration TAS
Traceable Author Statement
more info
 PubMed 
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 oxidative phosphorylation TAS
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
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
part_of respiratory chain complex TAS
Traceable Author Statement
more info
 PubMed 
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 6, mitochondrial
Names
complex III subunit 6
cytochrome c1 non-heme 11 kDa protein
mitochondrial hinge protein
ubiquinol-cytochrome c reductase complex 11 kDa protein
ubiquinol-cytochrome c reductase, complex III subunit VIII
NP_001284494.1
NP_001284495.1
NP_005995.2

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_001297565.2 → NP_001284494.1  cytochrome b-c1 complex subunit 6, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001284494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA526171, BC093060
    UniProtKB/TrEMBL
    Q567R0
    Conserved Domains (1) summary
    pfam02320
    Location:22 → 85
    UCR_hinge; Ubiquinol-cytochrome C reductase hinge protein

  2. NM_001297566.2 → NP_001284495.1  cytochrome b-c1 complex subunit 6, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_001284495.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AA526171, BG472687, BP366403
    Conserved Domains (1) summary
    pfam02320
    Location:19 → 81
    UCR_hinge; Ubiquinol-cytochrome C reductase hinge protein

  3. NM_006004.4 → NP_005995.2  cytochrome b-c1 complex subunit 6, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_005995.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC001934, BP366403
    Consensus CDS
    CCDS30704.1
    UniProtKB/Swiss-Prot
    B2R4V9, D3DQ18, P07919, Q5TDF6, Q6LDB8, Q9BQ91
    Related
    ENSP00000309565.5, ENST00000311672.10
    Conserved Domains (1) summary
    pfam02320
    Location:28 → 91
    UCR_hinge; Ubiquinol-cytochrome C reductase hinge protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    46303698..46316776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    46180920..46193993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07919.2 GenPept UniProtKB/Swiss-Prot:P07919

Gene LinkOut

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