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    UQCC5 ubiquinol-cytochrome c reductase complex assembly factor 5 [ Homo sapiens (human) ]

    Gene ID: 440957, updated on 3-Nov-2024

    Summary

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    Official Symbol
    UQCC5provided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase complex assembly factor 5provided by HGNC
    Primary source
    HGNC:HGNC:37257
    See related
    Ensembl:ENSG00000168273 MIM:620435; AllianceGenome:HGNC:37257
    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
    SMIM4; C3orf78
    Summary
    Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 18.7), fat (RPKM 10.8) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See UQCC5 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52536605..52541890)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52567702..52574786)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52570621..52575906)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52490599-52491274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52505250-52505750 Neighboring gene nischarin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52538009-52538514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52538515-52539020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52540387-52540986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52540987-52541588 Neighboring gene stabilin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52553072-52553680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52553681-52554287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14448 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52570940-52571473 Neighboring gene 5'-nucleotidase domain containing 2 Neighboring gene RNA, U6 small nuclear 856, pseudogene Neighboring gene RNA, U6atac small nuclear 16, pseudogene Neighboring gene polybromo 1

    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. 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 microproteins link metabolic cues to respiratory chain biogenesis. Liang C, et al. Cell Rep, 2022 Aug 16. PMID 35977508
    3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    4. CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Smits DJ, et al. Hum Genet, 2023 Mar. PMID 36538041, Free PMC Article
    5. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. Maio N, et al. Cell Metab, 2017 Apr 4. PMID 28380382

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors.
      Title: Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors.
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrial ribosome binding IDA
    Inferred from Direct Assay
    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 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 mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    ubiquinol-cytochrome c reductase complex assembly factor 5
    Names
    UPF0640 protein C3orf78
    small integral membrane protein 4

    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_001124767.2 → NP_001118239.1  ubiquinol-cytochrome c reductase complex assembly factor 5

      See identical proteins and their annotated locations for NP_001118239.1

      Status: VALIDATED

      Source sequence(s)
      AC112215, AK095910, BG031013, BM674004
      Consensus CDS
      CCDS46844.1
      UniProtKB/Swiss-Prot
      Q8WVI0
      Related
      ENSP00000417806.1, ENST00000477703.6
      Conserved Domains (1) summary
      pfam15114
      Location:3 → 68
      UPF0640; Uncharacterized protein family UPF0640

    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
      52536605..52541890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52567702..52574786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346573.1 → XP_054202548.1  ubiquinol-cytochrome c reductase complex assembly factor 5 isoform X1

      UniProtKB/Swiss-Prot
      Q8WVI0

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_003192.1: Suppressed sequence

      Description
      NR_003192.1: 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
    Q8WVI0.2 GenPept UniProtKB/Swiss-Prot:Q8WVI0

    Gene LinkOut

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

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