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UQCRC1 Gene(Protein Coding)

Ubiquinol-Cytochrome C Reductase Core Protein I

GCID:
GC03M048598
GIFtS:
57
Genes Participants
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Aliases for UQCRC1 Gene

Aliases for UQCRC1 Gene

  • Ubiquinol-Cytochrome C Reductase Core Protein I 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Core Protein 1 3 4
  • Complex III Subunit 1 3 4
  • Core Protein I 3 4
  • Cytochrome B-C1 Complex Subunit 1, Mitochondrial 3
  • D3S3191 3
  • UQCR1 3
  • QCR1 3

External Ids for UQCRC1 Gene

Previous GeneCards Identifiers for UQCRC1 Gene

  • GC03M048426
  • GC03M047919
  • GC03M048597
  • GC03M048611
  • GC03M048636

Summaries for UQCRC1 Gene

GeneCards Summary for UQCRC1 Gene

UQCRC1 (Ubiquinol-Cytochrome C Reductase Core Protein I) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. GO annotations related to this gene include ubiquitin protein ligase binding and ubiquinol-cytochrome-c reductase activity. An important paralog of this gene is PMPCB.

UniProtKB/Swiss-Prot for UQCRC1 Gene

  • This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.

Gene Wiki entry for UQCRC1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCRC1 Gene

Genomics for UQCRC1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for UQCRC1 Gene

Enhancers for UQCRC1 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
GH03G048654 1.1 Ensembl ENCODE 11.3 -45.4 -45432 2.8 ARID4B SIN3A RAD21 ETS1 ZNF143 ZNF207 FOS CREM EGR2 SP5 WDR6 TMEM89 UQCRC1 NCKIPSD FBXW12 PRKAR2A PRKAR2A-AS1 CDC25A PIR43914 MIR4793
GH03G048612 1.3 FANTOM5 Ensembl ENCODE 0.7 -3.1 -3080 2.2 GTF2F1 TBP JUN CEBPG THRB RCOR1 FOS CHD2 GATAD2A SMARCC1 TREX1 DALRD3 ARIH2 UQCRC1 TMEM89
GH03G048608 1 ENCODE 0.7 +1.5 1506 2.0 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3 UQCRC1 COL7A1
GH03G048593 1.4 Ensembl ENCODE 0.4 +13.6 13640 7.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZNF143 ZNF207 QRICH1 WDR6 NME6 NICN1 ZNF589 CCDC71 FCF1P2 IMPDH2 ENSG00000235236 RHOA-IT1
GH03G048617 1 ENCODE 0.4 -8.0 -8014 3.6 FOXA2 ATF1 MLX ARID4B SIN3A CBX5 ZNF207 ZNF143 SP5 PPARG NICN1 ENSG00000235236 FCF1P2 ENSG00000225399 TMEM89 UQCRC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UQCRC1 on UCSC Golden Path with GeneCards custom track

Promoters for UQCRC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152126 1576 1201 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3

Transcription factor binding sites by QIAGEN in the UQCRC1 gene promoter:

Genomic Location for UQCRC1 Gene

Chromosome:
3
Start:
48,598,999 bp from pter
End:
48,610,976 bp from pter
Size:
11,978 bases
Orientation:
Minus strand

Genomic View for UQCRC1 Gene

Genes around UQCRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCRC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for UQCRC1 Gene

Proteins for UQCRC1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for UQCRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31930-QCR1_HUMAN
    Recommended name:
    Cytochrome b-c1 complex subunit 1, mitochondrial
    Protein Accession:
    P31930
    Secondary Accessions:
    • B2R7R8
    • Q96DD2

    Protein attributes for UQCRC1 Gene

    Size:
    480 amino acids
    Molecular mass:
    52646 Da
    Quaternary structure:
    • The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

neXtProt entry for UQCRC1 Gene

Protein Expression for UQCRC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for UQCRC1 Gene

  • Ubiquitination at Lys225
  • Modification sites at PhosphoSitePlus

Other Protein References for UQCRC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCRC1 Gene

Domains & Families for UQCRC1 Gene

Gene Families for UQCRC1 Gene

HGNC:

Protein Domains for UQCRC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P31930

UniProtKB/Swiss-Prot:

QCR1_HUMAN :
  • Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily.
Family:
  • Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily.
genes like me logo Genes that share domains with UQCRC1: view

Function for UQCRC1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for UQCRC1 Gene

GENATLAS Biochemistry:
ubiquinol cytochrome c reductase,core protein 1,component of complex III of mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot Function:
This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.

Gene Ontology (GO) - Molecular Function for UQCRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IBA --
GO:0008121 ubiquinol-cytochrome-c reductase activity TAS 8407948
GO:0008270 zinc ion binding IBA --
GO:0031625 ubiquitin protein ligase binding IPI 19725078
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with UQCRC1: view
genes like me logo Genes that share phenotypes with UQCRC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCRC1 Gene

Localization for UQCRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCRC1 Gene

Mitochondrion inner membrane.

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 UQCRC1 gene
Compartment Confidence
mitochondrion 5
cytosol 5

Gene Ontology (GO) - Cellular Components for UQCRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain TAS 8407948
GO:0005750 mitochondrial respiratory chain complex III IEA,IBA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with UQCRC1: view

Pathways & Interactions for UQCRC1 Gene

genes like me logo Genes that share pathways with UQCRC1: view

Gene Ontology (GO) - Biological Process for UQCRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation TAS 8407948
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0009060 aerobic respiration TAS 8407948
GO:0014823 response to activity IEA --
GO:0016485 protein processing IBA --
genes like me logo Genes that share ontologies with UQCRC1: view

No data available for SIGNOR curated interactions for UQCRC1 Gene

Drugs & Compounds for UQCRC1 Gene

Products:

  1. Drug

(10) Drugs for UQCRC1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-2 Experimental Pharma Target 0
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-NONYL-4-HYDROXYQUINOLINE N-OXIDE Experimental Pharma Target 0
5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole Experimental Pharma Target 0

(1) Additional Compounds for UQCRC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
 56275-39-9
genes like me logo Genes that share compounds with UQCRC1: view

Transcripts for UQCRC1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for UQCRC1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(71) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UQCRC1 Gene

Ubiquinol-cytochrome c reductase core protein I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UQCRC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: - -

Relevant External Links for UQCRC1 Gene

GeneLoc Exon Structure for
UQCRC1
ECgene alternative splicing isoforms for
UQCRC1

Expression for UQCRC1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UQCRC1 Gene

mRNA expression in normal human tissues for UQCRC1 Gene
mRNA expression by BioGPS for UQCRC1 GenemRNA expression by GTEx for UQCRC1 Gene

mRNA differential expression in normal tissues according to GTEx for UQCRC1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.9) and Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for UQCRC1 Gene

This gene is overexpressed in Heart (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UQCRC1 Gene



Protein tissue co-expression partners for UQCRC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UQCRC1 Gene:

UQCRC1

SOURCE GeneReport for Unigene cluster for UQCRC1 Gene:

Hs.119251

Evidence on tissue expression from TISSUES for UQCRC1 Gene

  • Nervous system(4.9)
  • Bone marrow(4.4)
  • Liver(4.4)
  • Skin(4.3)
  • Lung(3.8)
  • Intestine(3.7)
  • Muscle(3.5)
  • Heart(3)
  • Eye(2.9)
  • Kidney(2.9)
  • Stomach(2.4)
  • Pancreas(2.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with UQCRC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCRC1 Gene

Orthologs for UQCRC1 Gene

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

Orthologs for UQCRC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia UQCRC1 34 35
  • 99.49 (n)
dog
(Canis familiaris)
 Mammalia UQCRC1 34 35
  • 88.82 (n)
cow
(Bos Taurus)
 Mammalia UQCRC1 34 35
  • 86.6 (n)
mouse
(Mus musculus)
 Mammalia Uqcrc1 34 16 35
  • 85.76 (n)
rat
(Rattus norvegicus)
 Mammalia Uqcrc1 34
  • 85.49 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia UQCRC1 35
  • 80 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia UQCRC1 35
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves UQCRC1 34 35
  • 70.44 (n)
lizard
(Anolis carolinensis)
 Reptilia UQCRC1 35
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia uqcrc1 34
  • 68.48 (n)
Str.7650 34
African clawed frog
(Xenopus laevis)
 Amphibia MGC53748 34
zebrafish
(Danio rerio)
 Actinopterygii uqcrc1 34 35
  • 63.02 (n)
zgc73404 34
fruit fly
(Drosophila melanogaster)
 Insecta CG3731 36 35
  • 57 (a)
worm
(Caenorhabditis elegans)
 Secernentea ucr-1 34 35
  • 49.36 (n)
ZC410.2 36
  • 43 (a)
mppb-1 35
  • 41 (a)
 ManyToMany
F56D2.1 36
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MAS1 35
  • 35 (a)
 OneToMany
COR1 37
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3431 35
  • 50 (a)
 OneToMany
Species where no ortholog for UQCRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 UQCRC1 Gene

ENSEMBL:
Gene Tree for UQCRC1 (if available)
TreeFam:
Gene Tree for UQCRC1 (if available)

Paralogs for UQCRC1 Gene

Paralogs for UQCRC1 Gene

(2) SIMAP similar genes for UQCRC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with UQCRC1: view

Variants for UQCRC1 Gene

Sequence variations from dbSNP and Humsavar for UQCRC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000865571 -- 48,602,155(+) ACGCC(A/G)TTCTC intron-variant
rs1000954007 -- 48,607,176(+) AGCTG(C/G)AACTA intron-variant
rs1001484563 -- 48,601,913(+) TACAG(A/G)GCTGT intron-variant
rs1001714750 -- 48,607,884(+) CAGTG(A/G)CTCCA intron-variant
rs1001744249 -- 48,608,208(+) ACGTA(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UQCRC1 Gene

Variant ID Type Subtype PubMed ID
nsv1004383 CNV loss 25217958
nsv3811 CNV deletion 18451855
nsv523981 CNV loss 19592680
nsv590246 CNV loss 21841781
nsv818138 CNV gain 17921354
nsv822074 CNV gain 20364138
nsv834685 CNV loss 17160897
nsv954484 CNV deletion 24416366

Variation tolerance for UQCRC1 Gene

Residual Variation Intolerance Score: 29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UQCRC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCRC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCRC1 Gene

Disorders for UQCRC1 Gene

Relevant External Links for UQCRC1

Genetic Association Database (GAD)
UQCRC1
Human Genome Epidemiology (HuGE) Navigator
UQCRC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UQCRC1

No disorders were found for UQCRC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UQCRC1 Gene

Publications for UQCRC1 Gene

  1. Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol- cytochrome c reductase. (PMID: 8407948) Hoffman G.G. … Greenspan D.S. (J. Biol. Chem. 1993) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Proteomic analysis of mitochondria-to-nucleus retrograde response in human cancer. (PMID: 16775426) Kulawiec M. … Singh K.K. (Cancer Biol. Ther. 2006) 3 22 64
  4. 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 64
  5. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PMID: 15242332) Aboulaich N. … Vener A.V. (Biochem. J. 2004) 3 4 64

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