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

Gene ID: 728568, updated on 5-Mar-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 respiratory chain complex III assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (103950194..103965707, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (103911904..103927498, complement)
105.20220307 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
  • 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. Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors. Dennerlein S, et al. Elife, 2021 Dec 31. PMID 34969438, Free PMC Article
  2. Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly. Zhang S, et al. Nat Commun, 2020 Mar 11. PMID 32161263, Free PMC Article
  3. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661
  4. A High-Density Human Mitochondrial Proximity Interaction Network. Antonicka H, et al. Cell Metab, 2020 Sep 1. PMID 32877691
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Liu X, et al. Nat Commun, 2018 Mar 22. PMID 29568061, Free PMC Article

See all (11) citations in PubMed

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 
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; 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_2023_10

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

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