Aliases for UQCRC1 Gene

Aliases for UQCRC1 Gene

  • Ubiquinol-Cytochrome C Reductase Core Protein 1 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Core Protein 1 3 4
  • Cytochrome B-C1 Complex Subunit 1, Mitochondrial 3 4
  • Ubiquinol-Cytochrome C Reductase Core Protein I 2 3
  • Complex III Subunit 1 3 4
  • Core Protein I 3 4
  • 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 1) is a Protein Coding gene. Diseases associated with UQCRC1 include Leukodystrophy, Hypomyelinating, 4 and Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (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 Summary 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

Additional gene information for UQCRC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UQCRC1 Gene

Genomics for UQCRC1 Gene

GeneHancer (GH) Regulatory Elements for UQCRC1 Gene

Promoters and enhancers for UQCRC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J048608 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.4 1375 2.8 HNRNPK FOXK2 ZNF217 CTCF NRF1 POLR2G GTF2E2 PHF8 ZFX POLR2A lnc-ATRIP-9 UQCRC1 lnc-UQCRC1-1 NME6 QRICH1 RHOA-IT1 USP19 CCDC71 MRPS18AP1 ATRIP
GH03J048654 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas 11.3 -45.4 -45410 2 CTCF GABPA TRIM28 ZBTB7A SKI POLR2A TCF12 TFDP1 RAD21 SAP130 WDR6 TMEM89 UQCRC1 NCKIPSD FBXW12 PRKAR2A PRKAR2A-AS1 CDC25A piR-32915 CELSR3
GH03J048523 Enhancer 0.7 Ensembl dbSUPER 11.1 +81.2 81175 10 ZNF10 RBM25 POLR2G SPI1 POLR2A ZMYM3 HLF SHISA5 PFKFB4 UCN2 COL7A1 ATRIP ENSG00000244380 UQCRC1 TMEM89 PLXNB1 CCDC51
GH03J048593 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 +13.6 13640 7.5 TCF12 POLR2G JUND FOS ZIC2 REST RFX1 ZNF740 EP300 CTBP1 COL7A1 WDR6 TMEM89 ZNF589 LAMB2 SNORA94-001 UQCRC1
GH03J048612 Enhancer 0.8 FANTOM5 ENCODE 0.7 -3.1 -3079 2.2 FOS CUX1 EP300 SMARCC1 CEBPB CHD2 JUN RCOR1 GTF2F1 JUND piR-57460-487 TREX1 DALRD3 ARIH2 lnc-ATRIP-9 UQCRC1 lnc-UQCRC1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UQCRC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UQCRC1

Top Transcription factor binding sites by QIAGEN in the UQCRC1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA9
  • MyoD

Genomic Locations for UQCRC1 Gene

Genomic Locations for UQCRC1 Gene
chr3:48,598,999-48,610,976
(GRCh38/hg38)
Size:
11,978 bases
Orientation:
Minus strand
chr3:48,636,432-48,648,409
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for UQCRC1 Gene

Proteins for UQCRC1 Gene

  • 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).

    Three dimensional structures from OCA and Proteopedia for UQCRC1 Gene

neXtProt entry for UQCRC1 Gene

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

Protein Domains for UQCRC1 Gene

Blocks:
  • Insulinase-like peptidase, family M16
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCRC1 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquinol-cytochrome-c reductase complex core protein 1 (QCR1_HUMAN)

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

Molecular function for UQCRC1 Gene

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.
GENATLAS Biochemistry:
ubiquinol cytochrome c reductase,core protein 1,component of complex III of mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)

Phenotypes From GWAS Catalog for UQCRC1 Gene

Gene Ontology (GO) - Molecular Function for UQCRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008121 ubiquinol-cytochrome-c reductase activity TAS 8407948
GO:0031625 ubiquitin protein ligase binding IPI 19725078
GO:0044877 protein-containing complex binding IEA --
GO:0046872 metal ion 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

Clone Products

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
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UQCRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IBA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain TAS 8407948
GO:0005750 mitochondrial respiratory chain complex III IEA --
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 IEA,TAS --
GO:0009060 aerobic respiration TAS 8407948
GO:0014823 response to activity IEA --
GO:0043279 response to alkaloid IEA --
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

(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-quinolinol 1-oxide Experimental Pharma Target 0
6-Hydroxy-5-undecyl-4,7-benzothiazoledione Experimental Pharma Target 0

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

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

Transcripts for UQCRC1 Gene

mRNA/cDNA for UQCRC1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for UQCRC1 Gene

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



Protein tissue co-expression partners for UQCRC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.2)
  • 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

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 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UQCRC1 31 30
  • 88.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UQCRC1 31 30
  • 86.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcrc1 17 31 30
  • 85.76 (n)
rat
(Rattus norvegicus)
Mammalia Uqcrc1 30
  • 85.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UQCRC1 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UQCRC1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves UQCRC1 31 30
  • 70.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UQCRC1 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcrc1 30
  • 68.48 (n)
Str.7650 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53748 30
zebrafish
(Danio rerio)
Actinopterygii uqcrc1 31 30
  • 63.02 (n)
OneToOne
zgc73404 30
fruit fly
(Drosophila melanogaster)
Insecta CG3731 31 32
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ucr-1 31 30
  • 49.36 (n)
ManyToMany
ZC410.2 32
  • 43 (a)
mppb-1 31
  • 41 (a)
ManyToMany
F56D2.1 32
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS1 31
  • 35 (a)
OneToMany
COR1 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3431 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UQCRC1: view image

Paralogs for UQCRC1 Gene

Paralogs for UQCRC1 Gene

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

  • QCR1_HUMAN
  • F8WEF1_HUMAN
  • F8WER5_HUMAN
genes like me logo Genes that share paralogs with UQCRC1: view

Variants for UQCRC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UQCRC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs144710790 - p.Asn301Ser
rs17080284 - p.Asp215His

Additional dbSNP identifiers (rs#s) for UQCRC1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(3) MalaCards diseases for UQCRC1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UQCRC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UQCRC1: view

No data available for 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 GG … Greenspan DS (The Journal of biological chemistry 1993) 2 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. Proteomic analysis of mitochondria-to-nucleus retrograde response in human cancer. (PMID: 16775426) Kulawiec M … Singh KK (Cancer biology & therapy 2006) 3 23 54
  4. 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 54
  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 AV (The Biochemical journal 2004) 3 4 54

Products for UQCRC1 Gene

Sources for UQCRC1 Gene