Aliases for UQCRH Gene

Aliases for UQCRH Gene

  • Ubiquinol-Cytochrome C Reductase Hinge Protein 2 3 5
  • Ubiquinol-Cytochrome C Reductase, Complex III Subunit VIII 2 3
  • Ubiquinol-Cytochrome C Reductase Complex 11 KDa Protein 3 4
  • Cytochrome B-C1 Complex Subunit 6, Mitochondrial 3 4
  • Cytochrome C1 Non-Heme 11 KDa Protein 3 4
  • Mitochondrial Hinge Protein 3 4
  • Complex III Subunit 6 3 4
  • Complex III Subunit VIII 4
  • UQCR8 3
  • QCR6 3

External Ids for UQCRH Gene

Previous GeneCards Identifiers for UQCRH Gene

  • GC01P046463
  • GC01P045726
  • GC01P046155
  • GC01P046139
  • GC01P046481
  • GC01P046541
  • GC01P046769
  • GC01P044885

Summaries for UQCRH Gene

GeneCards Summary for UQCRH Gene

UQCRH (Ubiquinol-Cytochrome C Reductase Hinge Protein) 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 Metabolism. Gene Ontology (GO) annotations related to this gene include ubiquinol-cytochrome-c reductase activity. An important paralog of this gene is UQCRHL.

UniProtKB/Swiss-Prot Summary for UQCRH 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 UQCRH Gene

Additional gene information for UQCRH Gene

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

Genomics for UQCRH Gene

GeneHancer (GH) Regulatory Elements for UQCRH Gene

Promoters and enhancers for UQCRH 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
GH01J046299 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -0.4 -426 6.4 RXRA FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF NRF1 POLR2G USF1 LRRC41 UQCRH LURAP1 NASP TOE1 MUTYH GPBP1L1 IPP EFCAB14 ZSWIM5
GH01J046338 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +37.9 37935 5.5 RXRA HNRNPK ZBTB40 ZNF217 EP300 CTCF NRF1 TCF12 MYC POLR2G NSUN4 lnc-LRRC41-3-001 lnc-LRRC41-3-002 LRRC41 GPBP1L1 LURAP1 UQCRH EFCAB14-AS1 PIK3R3 CYP4B1
GH01J046330 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 13.1 +28.4 28350 4.5 ZBTB40 CTCF ZIC2 REST RFX1 RCOR1 RAD21 CTBP1 TRIM22 POLR2A LRRC41 piR-52261-009 LURAP1 UQCRH FAAH lnc-LRRC41-2
GH01J046347 Enhancer 1.1 Ensembl ENCODE 11.6 +45.4 45388 2.8 ZNF217 CTCF AFF1 TARDBP REST TOE1 MYC RAD21 CTBP1 SKI NSUN4 LRRC41 UQCRH EFCAB14-AS1 CYP4B1 LURAP1 FAAH FAAHP1 piR-41501 piR-57138-011
GH01J046325 Enhancer 0.9 Ensembl ENCODE 12.8 +22.2 22216 1.1 ZBTB40 ARNT MEF2B NBN SMARCA5 ELF1 IKZF1 NR2F1 NFATC3 ATF2 NSUN4 LURAP1 LRRC41 UQCRH piR-31527-001 piR-42907-004
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UQCRH on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the UQCRH gene promoter:
  • AREB6
  • c-Myb
  • E47
  • ER-alpha
  • GATA-2
  • p53
  • Pax-6
  • RREB-1
  • Tal-1
  • YY1

Genomic Locations for UQCRH Gene

Genomic Locations for UQCRH Gene
chr1:46,303,613-46,316,777
(GRCh38/hg38)
Size:
13,165 bases
Orientation:
Plus strand
chr1:46,769,303-46,782,448
(GRCh37/hg19)
Size:
13,146 bases
Orientation:
Plus strand

Genomic View for UQCRH Gene

Genes around UQCRH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UQCRH Gene

Proteins for UQCRH Gene

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

    Protein Symbol:
    P07919-QCR6_HUMAN
    Recommended name:
    Cytochrome b-c1 complex subunit 6, mitochondrial
    Protein Accession:
    P07919
    Secondary Accessions:
    • B2R4V9
    • D3DQ18
    • Q5TDF6
    • Q6LDB8
    • Q9BQ91

    Protein attributes for UQCRH Gene

    Size:
    91 amino acids
    Molecular mass:
    10739 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 UQCRH Gene

neXtProt entry for UQCRH Gene

Post-translational modifications for UQCRH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UQCRH Gene

No data available for DME Specific Peptides for UQCRH Gene

Domains & Families for UQCRH Gene

Gene Families for UQCRH Gene

Protein Domains for UQCRH Gene

Blocks:
  • Ubiquinol-cytochrome C reductase hinge protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCRH Gene

GenScript: Design optimal peptide antigens:
  • Ubiquinol-cytochrome c reductase hinge protein, isoform CRA_c (Q567R0_HUMAN)
  • Ubiquinol-cytochrome c reductase complex 11 kDa protein (QCR6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07919

UniProtKB/Swiss-Prot:

QCR6_HUMAN :
  • Belongs to the UQCRH/QCR6 family.
Family:
  • Belongs to the UQCRH/QCR6 family.
genes like me logo Genes that share domains with UQCRH: view

Function for UQCRH Gene

Molecular function for UQCRH 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.

Phenotypes From GWAS Catalog for UQCRH Gene

Gene Ontology (GO) - Molecular Function for UQCRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008121 contributes_to ubiquinol-cytochrome-c reductase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with UQCRH: view
genes like me logo Genes that share phenotypes with UQCRH: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRH

Clone Products

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

Localization for UQCRH Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCRH 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 UQCRH gene
Compartment Confidence
mitochondrion 4
extracellular 3
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for UQCRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,HDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain TAS 2826252
GO:0005750 mitochondrial respiratory chain complex III IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with UQCRH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UQCRH Gene

Pathways & Interactions for UQCRH Gene

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

Gene Ontology (GO) - Biological Process for UQCRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation TAS 2826252
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c IEA,TAS --
GO:0009060 aerobic respiration TAS,IBA 21873635
GO:0055114 oxidation-reduction process TAS 2826252
genes like me logo Genes that share ontologies with UQCRH: view

No data available for SIGNOR curated interactions for UQCRH Gene

Drugs & Compounds for UQCRH Gene

(10) Drugs for UQCRH 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 UQCRH 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 UQCRH: view

Transcripts for UQCRH Gene

mRNA/cDNA for UQCRH Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRH

Clone Products

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

No ASD Table

Relevant External Links for UQCRH Gene

GeneLoc Exon Structure for
UQCRH

Expression for UQCRH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for UQCRH Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.1), Islet of Langerhans (9.2), Brain (8.6), and Heart (6.3).

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



Protein tissue co-expression partners for UQCRH Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for UQCRH Gene:

Hs.481571

Evidence on tissue expression from TISSUES for UQCRH Gene

  • Lung(4.6)
  • Pancreas(4.3)
  • Nervous system(4.2)
  • Liver(3.6)
  • Muscle(2.9)
  • Heart(2.7)
  • Skin(2.7)
  • Eye(2.6)
  • Intestine(2.4)
  • Kidney(2.4)
  • Spleen(2.1)
  • Bone marrow(2)
  • Lymph node(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with UQCRH: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCRH Gene

Orthologs for UQCRH Gene

This gene was present in the common ancestor of animals.

Orthologs for UQCRH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UQCRHL 31
  • 99 (a)
OneToOne
UQCRH 30
  • 98.9 (n)
mouse
(Mus musculus)
Mammalia Uqcrh 31
  • 92 (a)
OneToOne
Gm9763 30
  • 81.27 (n)
Uqcrh-ps1 17
dog
(Canis familiaris)
Mammalia UQCRH 31 30
  • 91.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UQCRH 31 30
  • 91.21 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UQCRH 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves UQCRH 31 30
  • 76.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UQCRH 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492979 30
  • 70.2 (n)
Str.603 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4986 30
zebrafish
(Danio rerio)
Actinopterygii uqcrh 31 30
  • 69.8 (n)
OneToOne
Dr.24476 30
fruit fly
(Drosophila melanogaster)
Insecta CG30354 31
  • 40 (a)
OneToMany
Ucrh 31
  • 39 (a)
OneToMany
Species where no ortholog for UQCRH 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UQCRH Gene

ENSEMBL:
Gene Tree for UQCRH (if available)
TreeFam:
Gene Tree for UQCRH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UQCRH: view image

Paralogs for UQCRH Gene

Paralogs for UQCRH Gene

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

Variants for UQCRH Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs34813470 - p.Glu51Gln

Additional dbSNP identifiers (rs#s) for UQCRH Gene

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

Variant ID Type Subtype PubMed ID
esv2761743 CNV gain 21179565
nsv470711 CNV gain 18288195
nsv829748 CNV loss 17160897

Variation tolerance for UQCRH Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UQCRH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UQCRH Gene

Additional Disease Information for UQCRH

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

No disorders were found for UQCRH Gene.

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

Publications for UQCRH Gene

  1. Elevated expression of the human mitochondrial hinge protein gene in cancer. (PMID: 7684318) Liu AY … Bradner RC (Cancer research 1993) 3 4 23 54
  2. An extremely acidic amino-terminal presequence of the precursor for the human mitochondrial hinge protein. (PMID: 2826252) Ohta S … Kagawa Y (FEBS letters 1987) 2 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for UQCRH Gene

Sources for UQCRH Gene