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

    Gene ID: 29796, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See UQCR10 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29767369..29770413)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30230748..30233792)
    RS_2024_09 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 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 (49) 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
    		  
    located_in mitochondrion HTP 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 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_2024_08

    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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