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Aliases for UQCC1 Gene

Aliases for UQCC1 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 1 2 3 5
  • Basic FGF-Repressed Zic-Binding Protein 2 3 4
  • Ubiquinol-Cytochrome C Reductase Complex Chaperone CBP3 Homolog 3 4
  • BFGF-Repressed Zic-Binding Protein 3 4
  • C20orf44 3 4
  • BFZB 3 4
  • UQCC 3 4
  • Cytochrome B Protein Synthesis 3 Homolog (S. Cerevisiae) 2
  • Ubiquinol-Cytochrome C Reductase Complex Chaperone 2
  • Cytochrome B Protein Synthesis 3 Homolog 3
  • Chromosome 20 Open Reading Frame 44 2
  • CBP3 3
  • BZFB 4

External Ids for UQCC1 Gene

Previous HGNC Symbols for UQCC1 Gene

  • C20orf44
  • UQCC

Previous GeneCards Identifiers for UQCC1 Gene

  • GC20M033891

Summaries for UQCC1 Gene

Entrez Gene Summary for UQCC1 Gene

  • This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for UQCC1 Gene

UQCC1 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for UQCC1 Gene

  • Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability.

Gene Wiki entry for UQCC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCC1 Gene

Genomics for UQCC1 Gene

Regulatory Elements for UQCC1 Gene

Promoters for UQCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UQCC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UQCC1 Gene

Chromosome:
20
Start:
35,302,566 bp from pter
End:
35,412,142 bp from pter
Size:
109,577 bases
Orientation:
Minus strand

Genomic View for UQCC1 Gene

Genes around UQCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCC1 Gene

Proteins for UQCC1 Gene

  • Protein details for UQCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVA1-UQCC1_HUMAN
    Recommended name:
    Ubiquinol-cytochrome-c reductase complex assembly factor 1
    Protein Accession:
    Q9NVA1
    Secondary Accessions:
    • B1AKV5
    • Q0VF37
    • Q5T348
    • Q5T351
    • Q5T353
    • Q86YU3
    • Q86YU4
    • Q96H66
    • Q9H438
    • Q9H452
    • Q9H9K8
    • Q9H9R5

    Protein attributes for UQCC1 Gene

    Size:
    299 amino acids
    Molecular mass:
    34600 Da
    Quaternary structure:
    • Interacts with UQCC2.
    SequenceCaution:
    • Sequence=AAL13119.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14156.1; Type=Erroneous termination; Positions=240; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAB14217.1; Type=Miscellaneous discrepancy; Note=Erroneous CDS prediction.; Evidence={ECO:0000305};

    Alternative splice isoforms for UQCC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UQCC1 Gene

Proteomics data for UQCC1 Gene at MOPED

Post-translational modifications for UQCC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UQCC1 Gene

Domains & Families for UQCC1 Gene

Protein Domains for UQCC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVA1

UniProtKB/Swiss-Prot:

UQCC1_HUMAN :
  • Belongs to the CBP3 family.
Family:
  • Belongs to the CBP3 family.
genes like me logo Genes that share domains with UQCC1: view

Function for UQCC1 Gene

Molecular function for UQCC1 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). Involved in cytochrome b translation and/or stability.
genes like me logo Genes that share phenotypes with UQCC1: view

Animal Model Products

CRISPR Products

miRNA for UQCC1 Gene

miRTarBase miRNAs that target UQCC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCC1 Gene

Localization for UQCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCC1 Gene

Mitochondrion inner membrane. Cytoplasmic vesicle. Note=Cytoplasmic vesicular structures. {ECO:0000250}.

Gene Ontology (GO) - Cellular Components for UQCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IDA 24385928
genes like me logo Genes that share ontologies with UQCC1: view

No data available for Subcellular locations from COMPARTMENTS for UQCC1 Gene

Pathways & Interactions for UQCC1 Gene

SuperPathways for UQCC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UQCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034551 mitochondrial respiratory chain complex III assembly IDA 24385928
genes like me logo Genes that share ontologies with UQCC1: view

No data available for Pathways by source and SIGNOR curated interactions for UQCC1 Gene

Drugs & Compounds for UQCC1 Gene

No Compound Related Data Available

Transcripts for UQCC1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for UQCC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16 ^ 17a · 17b ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - -
SP7: - - - - - - - - -
SP8: - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - -
SP12: - - - - - - - - - - - - -
SP13: - - - -
SP14:
SP15:
SP16:
SP17:

ExUns: 17c ^ 18a · 18b · 18c · 18d · 18e · 18f · 18g
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17: -

Relevant External Links for UQCC1 Gene

GeneLoc Exon Structure for
UQCC1
ECgene alternative splicing isoforms for
UQCC1

Expression for UQCC1 Gene

mRNA expression in normal human tissues for UQCC1 Gene

Protein differential expression in normal tissues from HIPED for UQCC1 Gene

This gene is overexpressed in Bone (15.6) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UQCC1 Gene



genes like me logo Genes that share expression patterns with UQCC1: view

Protein tissue co-expression partners for UQCC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UQCC1 Gene

Orthologs for UQCC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UQCC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UQCC 35
  • 92.23 (n)
  • 91.22 (a)
UQCC 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UQCC 35
  • 92.53 (n)
  • 90.3 (a)
UQCC1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcc1 35
  • 87.68 (n)
  • 88.81 (a)
Uqcc1 16
Uqcc1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UQCC 35
  • 99.89 (n)
  • 99.67 (a)
UQCC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uqcc1 35
  • 86.29 (n)
  • 86.29 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves UQCC 35
  • 71.91 (n)
  • 66.89 (a)
-- 36
  • 57 (a)
OneToMany
UQCC 36
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia UQCC1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76279 35
uqcc1 35
  • 64.28 (n)
  • 64.51 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398100 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2511 35
uqcc1 35
  • 69.54 (n)
  • 68.53 (a)
uqcc1 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007714 35
  • 47.6 (n)
  • 40.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10075 35
  • 48.74 (n)
  • 39.2 (a)
CG10075 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C35D10.5 35
  • 44.79 (n)
  • 31.29 (a)
C35D10.5 36
  • 24 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBP3 36
  • 21 (a)
OneToOne
CBP3 38
Species with no ortholog for UQCC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for UQCC1 Gene

ENSEMBL:
Gene Tree for UQCC1 (if available)
TreeFam:
Gene Tree for UQCC1 (if available)

Paralogs for UQCC1 Gene

genes like me logo Genes that share paralogs with UQCC1: view

No data available for Paralogs for UQCC1 Gene

Variants for UQCC1 Gene

Sequence variations from dbSNP and Humsavar for UQCC1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs4911494 - 35,384,111(+) ATGCT(C/T)GGGAC intron-variant, reference, missense, utr-variant-5-prime
rs6088810 - 35,381,997(+) CAACA(A/G)GCTGT intron-variant, reference, missense, utr-variant-5-prime
VAR_036612 A breast cancer sample
rs745931 -- 35,368,201(+) AGGGG(A/T)CACTA intron-variant
rs941664 -- 35,352,170(+) TTGAA(C/G)AGGTT intron-variant

Variation tolerance for UQCC1 Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UQCC1 Gene

HapMap Linkage Disequilibrium report
UQCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UQCC1 Gene

Disorders for UQCC1 Gene

Relevant External Links for UQCC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UQCC1

No disorders were found for UQCC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UQCC1 Gene

Publications for UQCC1 Gene

  1. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. (PMID: 24385928) Tucker E.J. … Thorburn D.R. (PLoS Genet. 2013) 3 4 67
  2. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. 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) 3
  5. Genome-wide association study identified UQCC locus for spine bone size in humans. (PMID: 23207799) Deng F.Y. … Deng H.W. (Bone 2013) 3

Products for UQCC1 Gene

Sources for UQCC1 Gene

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