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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
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 1 3
  • 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

Additional gene information for UQCC1 Gene

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

Genomics for UQCC1 Gene

Regulatory Elements for UQCC1 Gene

Enhancers for UQCC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H035436 1.2 Ensembl ENCODE 51.9 -26.0 -25955 3 ATF1 ZNF493 ARID4B GLIS2 ZNF302 ZNF416 ZNF143 ATF7 MCM3 YY2 UQCC1 RBM12 GGT7 NCOA6 RBM39 AAR2 CPNE1 PROCR ERGIC3 MMP24-AS1
GH20H035317 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 28.9 +92.4 92394 5 PKNOX1 FOXA2 ARNT FEZF1 GLIS2 FOS ATF7 SP3 YY2 TSHZ1 UQCC1 EIF6 FAM83C MMP24 FAM83C-AS1 MMP24-AS1 NCOA6 EDEM2 RBM12 MIR499A
GH20H035301 2 FANTOM5 Ensembl ENCODE dbSUPER 29.4 +106.1 106135 9 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 UQCC1 GDF5 MMP24-AS1 EDEM2 MMP24 MIR1289-1 CEP250 CPNE1 EIF6 NCOA6
GH20H035324 1.6 Ensembl ENCODE dbSUPER 28.1 +84.5 84542 5 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS DEK SP5 UQCC1 FAM83C FAM83C-AS1 EIF6 MMP24-AS1 EDEM2 GDF5OS MMP24 CPNE1 FER1L4
GH20H035410 1.1 ENCODE 28.9 +0.4 358 2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 RBM12 UQCC1 RBM39 CPNE1 AAR2 ERGIC3 PROCR TRPC4AP EIF6 RPL36P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UQCC1 on UCSC Golden Path with GeneCards custom track

Promoters for UQCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136558 242 1401 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2

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

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

Gene Families for UQCC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.

Phenotypes From GWAS Catalog for UQCC1 Gene

Gene Ontology (GO) - Molecular Function for UQCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24385928
genes like me logo Genes that share ontologies with UQCC1: view
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UQCC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UQCC1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

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,IEA 24385928
GO:0016020 membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with UQCC1: view

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
GO:0070131 positive regulation of mitochondrial translation 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UQCC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for UQCC1 Gene



Protein tissue co-expression partners for UQCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UQCC1 Gene:

UQCC1

Evidence on tissue expression from TISSUES for UQCC1 Gene

  • Nervous system(5)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with UQCC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia UQCC1 34
  • 100 (a)
OneToOne
UQCC 33
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia UQCC 33
  • 92.53 (n)
UQCC1 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UQCC 33 34
  • 92.23 (n)
mouse
(Mus musculus)
Mammalia Uqcc1 33 16 34
  • 87.68 (n)
rat
(Rattus norvegicus)
Mammalia Uqcc1 33
  • 86.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves UQCC 33 34
  • 71.91 (n)
-- 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia UQCC1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcc1 33
  • 64.28 (n)
MGC76279 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398100 33
zebrafish
(Danio rerio)
Actinopterygii uqcc1 33 34
  • 69.54 (n)
Dr.2511 33
fruit fly
(Drosophila melanogaster)
Insecta CG10075 33 34
  • 48.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007714 33
  • 47.6 (n)
worm
(Caenorhabditis elegans)
Secernentea C35D10.5 33 34
  • 44.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBP3 34 36
  • 21 (a)
OneToOne
Species where no ortholog for UQCC1 was found in the sources mined by GeneCards:
  • 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

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
VAR_036612 A breast cancer sample
rs1000034786 -- 35,390,643(+) CTGCT(A/C)AAATT intron-variant
rs1000053799 -- 35,403,332(+) GCATG(C/T)TTATG intron-variant
rs1000108172 -- 35,342,165(+) CTCAC(C/T)GAGGC intron-variant
rs1000110840 -- 35,363,570(+) CCAGG(A/G)AACTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UQCC1 Gene

Variant ID Type Subtype PubMed ID
esv3304207 CNV mobile element insertion 20981092
esv3310018 CNV mobile element insertion 20981092
esv3401269 CNV insertion 20981092
esv3403437 CNV insertion 20981092
esv3437471 CNV insertion 20981092
nsv1059168 CNV loss 25217958
nsv178542 CNV deletion 16902084
nsv179166 CNV deletion 16902084
nsv3363 CNV insertion 18451855
nsv833963 CNV gain 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 EJ … Thorburn DR (PLoS genetics 2013) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for UQCC1 Gene

Sources for UQCC1 Gene

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