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    UQCC6 ubiquinol-cytochrome c reductase complex assembly factor 6 [ Homo sapiens (human) ]

    Gene ID: 728568, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UQCC6provided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase complex assembly factor 6provided by HGNC
    Primary source
    HGNC:HGNC:34450
    See related
    Ensembl:ENSG00000204954 MIM:618812; AllianceGenome:HGNC:34450
    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
    BR; BRAWNIN; C12orf73
    Summary
    Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.9), brain (RPKM 1.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See UQCC6 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (103950194..103965707, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (103911904..103927498, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (104343972..104350993, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 41, pseudogene Neighboring gene uncharacterized LOC124903001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6900 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23563 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104321935-104322117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6902 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23584 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23591 Neighboring gene microRNA 3652 Neighboring gene heat shock protein 90 beta family member 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104350309-104350822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6905 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23620 Neighboring gene thymine DNA glycosylase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23681 Neighboring gene glycosyltransferase 8 domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104408145-104408367 Neighboring gene phosphoglycerate mutase 1 (brain) pseudogene

    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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    GeneRIFs: Gene References Into Functions

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13975, DKFZp547P055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex III assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex III assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex III assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquinol-cytochrome c reductase complex assembly factor 6
    Names
    protein BRAWNIN
    uncharacterized protein C12orf73

    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_001135570.3 → NP_001129042.1  ubiquinol-cytochrome c reductase complex assembly factor 6

      See identical proteins and their annotated locations for NP_001129042.1

      Status: VALIDATED

      Source sequence(s)
      AC078819
      Consensus CDS
      CCDS44964.1
      UniProtKB/Swiss-Prot
      Q69YU5
      Related
      ENSP00000367330.4, ENST00000378090.9
      Conserved Domains (1) summary
      pfam14990
      Location:1 → 46
      DUF4516; Domain of unknown function (DUF4516)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      103950194..103965707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019917.3 → XP_016875406.1  ubiquinol-cytochrome c reductase complex assembly factor 6 isoform X2

      UniProtKB/Swiss-Prot
      Q69YU5
      Related
      ENSP00000446981.1, ENST00000553183.5
      Conserved Domains (1) summary
      pfam14990
      Location:1 → 46
      DUF4516; Domain of unknown function (DUF4516)

    2. XM_017019916.3 → XP_016875405.1  ubiquinol-cytochrome c reductase complex assembly factor 6 isoform X2

      UniProtKB/Swiss-Prot
      Q69YU5
      Related
      ENSP00000449839.1, ENST00000547945.5
      Conserved Domains (1) summary
      pfam14990
      Location:1 → 46
      DUF4516; Domain of unknown function (DUF4516)

    3. XM_011538718.4 → XP_011537020.1  ubiquinol-cytochrome c reductase complex assembly factor 6 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      103911904..103927498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373130.1 → XP_054229105.1  ubiquinol-cytochrome c reductase complex assembly factor 6 isoform X2

      UniProtKB/Swiss-Prot
      Q69YU5

    2. XM_054373129.1 → XP_054229104.1  ubiquinol-cytochrome c reductase complex assembly factor 6 isoform X2

      UniProtKB/Swiss-Prot
      Q69YU5

    3. XM_054373128.1 → XP_054229103.1  ubiquinol-cytochrome c reductase complex assembly factor 6 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024026.1: Suppressed sequence

      Description
      NR_024026.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69YU5.2 GenPept UniProtKB/Swiss-Prot:Q69YU5

    Gene LinkOut

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

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