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    UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 [ Homo sapiens (human) ]

    Gene ID: 283951, updated on 26-Jun-2024

    Summary

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    Official Symbol
    UQCC4provided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase complex assembly factor 4provided by HGNC
    Primary source
    HGNC:HGNC:27558
    See related
    Ensembl:ENSG00000174109 MIM:620578; AllianceGenome:HGNC:27558
    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
    URLC5; gs103; CCSMST1; C16orf91
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 6.1), brain (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UQCC4 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1419752..1420747, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1434364..1435359, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1469753..1470748, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene unk like zinc finger Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1425173-1425672 Neighboring gene tight junction protein 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6976 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1458173-1458350 Neighboring gene uncharacterized LOC101929440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1463606-1464180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1464181-1464755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1464756-1465330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1465331-1465904 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:1470039-1470894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:1470895-1471748 Neighboring gene uncharacterized LOC105371044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6985 Neighboring gene intestine-critical region regulatory element Neighboring gene proline and glutamate rich with coiled coil 1 Neighboring gene coiled-coil domain containing 154

    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. Mitochondrial microproteins link metabolic cues to respiratory chain biogenesis. Liang C, et al. Cell Rep, 2022 Aug 16. PMID 35977508
    2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels RJ, et al. Hum Mol Genet, 2001 Feb 15. PMID 11157797
    3. Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. Gordon DE, et al. Science, 2020 Dec 4. PMID 33060197, Free PMC Article
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) 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

    • MGC104723

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex III assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of respirasome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ubiquinol-cytochrome c reductase complex assembly factor 4
    Names
    cattle cerebrum and skeletal muscle-specific protein 1 family member
    up-regulated in lung cancer 5

    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_001272051.2 → NP_001258980.1  ubiquinol-cytochrome c reductase complex assembly factor 4 precursor

      See identical proteins and their annotated locations for NP_001258980.1

      Status: VALIDATED

      Source sequence(s)
      AW014549, BC023590, BQ962326
      Consensus CDS
      CCDS61789.1
      UniProtKB/Swiss-Prot
      Q4G0I0, Q96RZ0
      UniProtKB/TrEMBL
      A0A0A8K8N9
      Related
      ENSP00000413100.2, ENST00000442039.3
      Conserved Domains (1) summary
      pfam15013
      Location:47 → 119
      CCSMST1; CCSMST1 family

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1419752..1420747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1434364..1435359 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010878.1: Suppressed sequence

      Description
      NM_001010878.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4G0I0.1 GenPept UniProtKB/Swiss-Prot:Q4G0I0

    Gene LinkOut

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

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