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

    Gene ID: 790955, updated on 9-Dec-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See UQCC3 in Genome Data Viewer
    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_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 98 Neighboring gene LBH domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4837 Neighboring gene small nucleolar RNA, H/ACA box 57 Neighboring gene citrate synthase lysine methyltransferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62437829-62438570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62438571-62439310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62439311-62440052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4839 Neighboring gene UBX domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62455030-62455530 Neighboring gene LRRN4 C-terminal like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC87549

    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 
    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 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ubiquinol-cytochrome-c reductase complex assembly factor 3
    Names
    UPF0723 protein C11orf83
    assembly factor CBP4 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_041802.1 RefSeqGene

      Range
      5020..7033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001085372.3NP_001078841.1  ubiquinol-cytochrome-c reductase complex assembly factor 3

      See identical proteins and their annotated locations for NP_001078841.1

      Status: REVIEWED

      Source sequence(s)
      AI972746, AP001458, AY358935, BC090057, BF055120, CA422425
      Consensus CDS
      CCDS41658.1
      UniProtKB/Swiss-Prot
      Q5FVD5, Q6UW78
      Related
      ENSP00000367189.3, ENST00000377953.4
      Conserved Domains (1) summary
      pfam15141
      Location:182
      DUF4574; Domain of unknown function (DUF4574)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62671673..62673686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62661091..62663101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)