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

    Gene ID: 440957, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001124767.2NP_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:368
      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_054346573.1XP_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.