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

Gene ID: 283951, updated on 2-Nov-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 involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 6.1), brain (RPKM 5.9) and 25 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1419752..1420747, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1434364..1435359, complement)
RS_2024_09 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. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
  5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

See all (7) 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)

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion HTP PubMed 

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_2024_08

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

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