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Aliases for UQCC3 Gene

Aliases for UQCC3 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3 2 3 5
  • Assembly Factor CBP4 Homolog 3 4
  • C11orf83 3 4
  • 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. Diseases associated with UQCC3 include mitochondrial complex iii deficiency, nuclear type 9 and mitochondrial complex iii deficiency.

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), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.

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

Regulatory Elements for UQCC3 Gene

Promoters for UQCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UQCC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for UQCC3 Gene

Chromosome:
11
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

Genes around UQCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • Associates with the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex).

neXtProt entry for UQCC3 Gene

Proteomics data for UQCC3 Gene at MOPED

Post-translational modifications for UQCC3 Gene

Other Protein References for UQCC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCC3 Gene

Domains & Families for UQCC3 Gene

Protein Domains for UQCC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UW78

UniProtKB/Swiss-Prot:

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

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), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.

Human Phenotype Ontology for UQCC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for UQCC3

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 Targets 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for UQCC3 Gene

Pathways & Interactions for UQCC3 Gene

SuperPathways for UQCC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UQCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034551 mitochondrial respiratory chain complex III assembly IMP 25605331
genes like me logo Genes that share ontologies with UQCC3: view

No data available for Pathways by source and SIGNOR curated interactions for UQCC3 Gene

Drugs & Compounds for UQCC3 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for UQCC3 Gene

This gene is overexpressed in Pancreas (28.8), Breast (22.2), and Bone (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UQCC3 Gene



Primer Products

In Situ Assay Products

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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia C29H11orf83 35
  • 79.42 (n)
  • 74.07 (a)
C11orf83 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C18H11orf83 35
  • 82.58 (n)
  • 75 (a)
C11orf83 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AI462493 35
  • 69.11 (n)
  • 59.76 (a)
Uqcc3 16
AI462493 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690344 35
  • 69.92 (n)
  • 59.76 (a)
oppossum
(Monodelphis domestica)
Mammalia C11orf83 36
  • 52 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C11ORF83 36
  • 100 (a)
OneToOne
C11H11orf83 35
  • 100 (n)
  • 100 (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
VAR_071864 Mitochondrial complex III deficiency, nuclear 9 (MC3DN9)
rs72927301 -- 62,674,081(+) TTTCT(C/T)CTAGT downstream-variant-500B
rs139154471 -- 62,673,817(+) GGTGC(A/G)CCACT downstream-variant-500B
rs149922990 -- 62,673,837(+) TAATC(C/T)TTGTA downstream-variant-500B
rs148752788 -- 62,674,004(+) CCCAG(A/G)TATAA downstream-variant-500B

Variation tolerance for UQCC3 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.50% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(2) MalaCards diseases for UQCC3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 9
  • mitochondrial complex iii deficiency nuclear type 9
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
- elite association - COSMIC cancer census association via MalaCards
Search UQCC3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for UQCC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UQCC3
genes like me logo Genes that share disorders with UQCC3: view

No data available for Genatlas for UQCC3 Gene

Publications for UQCC3 Gene

  1. 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 67
  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
  3. 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. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  5. [Bioinformatics analysis and function prediction of the novel gene AY358935]. (PMID: 20159687) Xiong S.Q. … Long Q.D. (Nan Fang Yi Ke Da Xue Xue Bao 2010) 3

Products for UQCC3 Gene

Sources for UQCC3 Gene

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