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    UQCRC1 ubiquinol-cytochrome c reductase core protein 1 [ Homo sapiens (human) ]

    Gene ID: 7384, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UQCRC1provided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase core protein 1provided by HGNC
    Primary source
    HGNC:HGNC:12585
    See related
    Ensembl:ENSG00000010256 MIM:191328; AllianceGenome:HGNC:12585
    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
    QCR1; PKNPY; UQCR1; D3S3191
    Summary
    Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UQCRC1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48599002..48609646, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48627962..48639898, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48636435..48647079, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48605535-48606482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48607079-48607628 Neighboring gene collagen type VII alpha 1 chain Neighboring gene urocortin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48625763-48626466 Neighboring gene microRNA 711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48626467-48627168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48638465-48638965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48647149-48647663 Neighboring gene small nucleolar RNA, H/ACA box 94 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48651179-48651678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48666910-48667410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48667411-48667911 Neighboring gene transmembrane protein 89 Neighboring gene solute carrier family 26 member 6 Neighboring gene microRNA 6824

    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. Existence of common homologous elements in the transcriptional regulatory regions of human nuclear genes and mitochondrial gene for the oxidative phosphorylation system. Suzuki H, et al. J Biol Chem, 1991 Feb 5. PMID 1846623
    2. Proteomic analysis of mitochondria-to-nucleus retrograde response in human cancer. Kulawiec M, et al. Cancer Biol Ther, 2006 Aug. PMID 16775426
    3. Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans. Senkevich K, et al. Neurobiol Aging, 2021 May. PMID 33248804, Free PMC Article
    4. Systematic expression analysis of the mitochondrial complex III subunits identifies UQCRC1 as biomarker in clear cell renal cell carcinoma. Ellinger J, et al. Oncotarget, 2016 Dec 27. PMID 27845902, Free PMC Article
    5. Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease. Wang S, et al. Neurobiol Aging, 2024 Feb. PMID 37984314

    See all (136) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.
      Title: Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.
    2. Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.
      Title: Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.
    3. The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.
      Title: The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.
    4. Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
      Title: Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
    5. High miR-214-3p expression may promote osteosarcoma cell proliferation by targeting UQCRC1.
      Title: RNA Sequencing of Osteosarcoma Gene Expression Profile Revealed that miR-214-3p Facilitates Osteosarcoma Cell Proliferation via Targeting Ubiquinol-Cytochrome c Reductase Core Protein 1 (UQCRC1).
    6. dysregulated UQCRC1 and UQCRFS1 are involved in impaired mitochondrial electron transport chain function.
      Title: Systematic expression analysis of the mitochondrial complex III subunits identifies UQCRC1 as biomarker in clear cell renal cell carcinoma.
    7. Gene expression level of UQCRC1 is significantly higher in AD patients when compared to normal controls.
      Title: Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    10. This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Parkinsonism with polyneuropathy
    MedGen: C5543299 OMIM: 619279 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 core protein I (UQCRC1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquinol-cytochrome-c reductase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    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 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
    		  
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to alkaloid 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 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of respiratory chain complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of respiratory chain complex III IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome b-c1 complex subunit 1, mitochondrial
    Names
    complex III subunit 1
    core protein I
    ubiquinol-cytochrome c reductase core protein I
    ubiquinol-cytochrome-c reductase complex core protein 1
    NP_003356.2
    XP_054203719.1

    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_003365.3 → NP_003356.2  cytochrome b-c1 complex subunit 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_003356.2

      Status: VALIDATED

      Source sequence(s)
      AA284910, AK129903, L16842
      Consensus CDS
      CCDS2774.1
      UniProtKB/Swiss-Prot
      B2R7R8, P31930, Q96DD2
      UniProtKB/TrEMBL
      A0AAQ5BHN1
      Related
      ENSP00000203407.5, ENST00000203407.6
      Conserved Domains (1) summary
      COG0612
      Location:41 → 469
      PqqL; Predicted Zn-dependent peptidase [General function prediction only]

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48599002..48609646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48627962..48639898 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347744.1 → XP_054203719.1  cytochrome b-c1 complex subunit 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2R7R8, P31930, Q96DD2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P31930.3 GenPept UniProtKB/Swiss-Prot:P31930

    Gene LinkOut

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