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Aliases for UQCC3 Gene

Aliases for UQCC3 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3 2 3
  • Assembly Factor CBP4 Homolog 3 4
  • C11orf83 3 4
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 3 3
  • Chromosome 11 Open Reading Frame 83 2
  • UPF0723 Protein C11orf83 3
  • CCDS41658.1 3
  • MC3DN9 3
  • UNQ655 3

External Ids for UQCC3 Gene

Previous HGNC Symbols for UQCC3 Gene

  • C11orf83

Summaries for UQCC3 Gene

Entrez Gene Summary for UQCC3 Gene

  • Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]

GeneCards Summary for UQCC3 Gene

UQCC3 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3) is a Protein Coding gene.

UniProtKB/Swiss-Prot for UQCC3 Gene

  • Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). May be involved in cytochrome b stabilization and/or assembly.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCC3 Gene

Genomics for UQCC3 Gene

Genomic Location for UQCC3 Gene

Start:
62,670,273 bp from pter
End:
62,673,690 bp from pter
Size:
3,418 bases
Orientation:
Plus strand

Genomic View for UQCC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UQCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCC3 Gene

No data available for Regulatory Elements for UQCC3 Gene

Proteins for UQCC3 Gene

  • Protein details for UQCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UW78-UQCC3_HUMAN
    Recommended name:
    Ubiquinol-cytochrome-c reductase complex assembly factor 3
    Protein Accession:
    Q6UW78
    Secondary Accessions:
    • Q5FVD5

    Protein attributes for UQCC3 Gene

    Size:
    93 amino acids
    Molecular mass:
    10081 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UQCC3 Gene

Proteomics data for UQCC3 Gene at MOPED

Post-translational modifications for UQCC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UQCC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCC3 Gene

Domains for UQCC3 Gene

Protein Domains for UQCC3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6UW78

UniProtKB/Swiss-Prot:

UQCC3_HUMAN :
  • Q6UW78
Family:
  • Belongs to the UQCC3 family.
genes like me logo Genes that share domains with UQCC3: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for UQCC3 Gene

Function for UQCC3 Gene

Molecular function for UQCC3 Gene

UniProtKB/Swiss-Prot Function: Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). May be involved in cytochrome b stabilization and/or assembly.

miRNA for UQCC3 Gene

miRTarBase miRNAs that target UQCC3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for UQCC3 Gene

Localization for UQCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCC3 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for UQCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UQCC3: view

No data available for Subcellular locations from COMPARTMENTS for UQCC3 Gene

Pathways for UQCC3 Gene

SuperPathways for UQCC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UQCC3 Gene

None

No data available for Pathways by source for UQCC3 Gene

Transcripts for UQCC3 Gene

mRNA/cDNA for UQCC3 Gene

(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for UQCC3 Gene

No ASD Table

Relevant External Links for UQCC3 Gene

GeneLoc Exon Structure for
UQCC3
ECgene alternative splicing isoforms for
UQCC3

Expression for UQCC3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for UQCC3 Gene

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UQCC3 Gene

Orthologs for UQCC3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for UQCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf83 35
  • 100 (n)
  • 100 (a)
C11ORF83 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11orf83 36
  • 72 (a)
OneToOne
C29H11orf83 35
  • 79.42 (n)
  • 74.07 (a)
dog
(Canis familiaris)
Mammalia C11orf83 36
  • 68 (a)
OneToOne
C18H11orf83 35
  • 82.58 (n)
  • 75 (a)
mouse
(Mus musculus)
Mammalia AI462493 35
  • 69.11 (n)
  • 59.76 (a)
AI462493 16
AI462493 36
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C11orf83 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690344 35
  • 69.92 (n)
  • 59.76 (a)
Species with no ortholog for UQCC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for UQCC3 Gene

ENSEMBL:
Gene Tree for UQCC3 (if available)
TreeFam:
Gene Tree for UQCC3 (if available)

Paralogs for UQCC3 Gene

No data available for Paralogs for UQCC3 Gene

Variants for UQCC3 Gene

Sequence variations from dbSNP and Humsavar for UQCC3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs72927301 -- 62,674,081(+) TTTCT(C/T)CTAGT downstream-variant-500B
rs139154471 -- 62,673,817(+) GGTGC(A/G)CCACT downstream-variant-500B
rs144011895 -- 62,673,950(+) AGCAT(A/G)ACCCG downstream-variant-500B
rs148752788 -- 62,674,004(+) CCCAG(A/G)TATAA downstream-variant-500B
rs149922990 -- 62,673,837(+) TAATC(C/T)TTGTA downstream-variant-500B

Relevant External Links for UQCC3 Gene

HapMap Linkage Disequilibrium report
UQCC3
Human Gene Mutation Database (HGMD)
UQCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UQCC3 Gene

Disorders for UQCC3 Gene

UniProtKB/Swiss-Prot

UQCC3_HUMAN
  • Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. {ECO:0000269 PubMed:25008109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

No disorders were found for UQCC3 Gene.

Publications for UQCC3 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. (PMID: 25008109) Wanschers B.F. … Huynen M.A. (Hum. Mol. Genet. 2014) 2 3 4
  3. C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization. (PMID: 25605331) Desmurs M. … Lane L. (Mol. Cell. Biol. 2015) 2 3
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for UQCC3 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate UQCC3
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for UQCC3
    • Block miRNA regulation of UQCC3 using miScript Target Protectors

    Sources for UQCC3 Gene

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