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

Gene ID: 440957, updated on 5-Mar-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
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52536605..52541890)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52567702..52574786)
105.20220307 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
  • 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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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 

General protein information

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Preferred Names
ubiquinol-cytochrome c reductase complex assembly factor 5; 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_2023_10

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.

Chemical Information
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Research Materials
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