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Aliases for UQCRQ Gene

Aliases for UQCRQ Gene

  • Ubiquinol-Cytochrome C Reductase Complex III Subunit VII 2 3 5
  • Complex III Subunit 8 2 3 4
  • Ubiquinol-Cytochrome C Reductase Complex Ubiquinone-Binding Protein QP-C 3 4
  • Ubiquinol-Cytochrome C Reductase, Complex III Subunit VII, 9.5kDa 2 3
  • Ubiquinol-Cytochrome C Reductase Complex 9.5 KDa Protein 3 4
  • Complex III Subunit VIII 3 4
  • Ubiquinol-Cytochrome C Reductase, Complex III Subunit VII 2
  • Low Molecular Mass Ubiquinone-Binding Protein (9.5kD) 3
  • Cytochrome B-C1 Complex Subunit 8 3
  • MC3DN4 3
  • UQCR7 3
  • QP-C 3
  • QCR8 3
  • QPC 3

External Ids for UQCRQ Gene

Previous GeneCards Identifiers for UQCRQ Gene

  • GC05P132231
  • GC05P127395
  • GC05P132204

Summaries for UQCRQ Gene

Entrez Gene Summary for UQCRQ Gene

  • This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

GeneCards Summary for UQCRQ Gene

UQCRQ (Ubiquinol-Cytochrome C Reductase Complex III Subunit VII) is a Protein Coding gene. Diseases associated with UQCRQ include Mitochondrial Complex Iii Deficiency, Nuclear Type 4 and Mitochondrial Complex Iii Deficiency. 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 ubiquinol-cytochrome-c reductase activity.

UniProtKB/Swiss-Prot for UQCRQ 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 subunit, together with cytochrome b, binds to ubiquinone.

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

Genomics for UQCRQ Gene

Regulatory Elements for UQCRQ Gene

Enhancers for UQCRQ 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
GH05G132818 1.5 Ensembl ENCODE dbSUPER 11 -46.8 -46758 2.2 HDGF FOXA2 ATF1 ARNT WRNIP1 ARID4B ZNF2 YY1 ZNF143 ZNF263 GDF9 RNU7-15P RNA5SP192 UQCRQ CCNI2 KIF3A IL4 ENSG00000230612 SHROOM1 ENSG00000272203
GH05G132812 1.2 ENCODE dbSUPER 11 -51.0 -50958 5.4 CBX3 BMI1 YY1 GLIS2 EGR2 ZNF263 ZNF202 ZNF362 ZNF280D CEBPB GDF9 RNU7-15P RNA5SP192 CCNI2 UQCRQ KIF3A TH2LCRR IL13 IL4 ENSG00000230612
GH05G132848 1.1 ENCODE dbSUPER 0.4 -17.0 -16986 1.3 ELF3 RAD21 RARA YY1 FOS CREM NFYC CEBPB ZNF518A POLR2H GDF9 SLC22A4 RNA5SP192 UQCRQ
GH05G132853 0.7 ENCODE 0.4 -13.0 -13047 0.2 SAP130 TAF1 FOXA3 MAX RAD21 FOXA1 RARA ZKSCAN1 GABPA YY1 SHROOM1 RNA5SP192 UQCRQ
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UQCRQ on UCSC Golden Path with GeneCards custom track

Promoters for UQCRQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186910 240 1601 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for UQCRQ Gene

Chromosome:
5
Start:
132,866,560 bp from pter
End:
132,868,844 bp from pter
Size:
2,285 bases
Orientation:
Plus strand

Genomic View for UQCRQ Gene

Genes around UQCRQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UQCRQ Gene

Proteins for UQCRQ Gene

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

    Protein Symbol:
    O14949-QCR8_HUMAN
    Recommended name:
    Cytochrome b-c1 complex subunit 8
    Protein Accession:
    O14949
    Secondary Accessions:
    • Q5FVE2
    • Q9BV88
    • Q9T2V7

    Protein attributes for UQCRQ Gene

    Size:
    82 amino acids
    Molecular mass:
    9906 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 UQCRQ Gene

Post-translational modifications for UQCRQ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UQCRQ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCRQ Gene

Domains & Families for UQCRQ Gene

Protein Domains for UQCRQ Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCRQ Gene

Graphical View of Domain Structure for InterPro Entry

O14949

UniProtKB/Swiss-Prot:

QCR8_HUMAN :
  • Belongs to the UQCRQ/QCR8 family.
Family:
  • Belongs to the UQCRQ/QCR8 family.
genes like me logo Genes that share domains with UQCRQ: view

Function for UQCRQ Gene

Molecular function for UQCRQ 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 subunit, together with cytochrome b, binds to ubiquinone.

Gene Ontology (GO) - Molecular Function for UQCRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008121 contributes_to ubiquinol-cytochrome-c reductase activity IBA,IEA --
genes like me logo Genes that share ontologies with UQCRQ: view
genes like me logo Genes that share phenotypes with UQCRQ: view

Human Phenotype Ontology for UQCRQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCRQ Gene

Localization for UQCRQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCRQ 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 UQCRQ gene
Compartment Confidence
mitochondrion 5
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UQCRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IBA --
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with UQCRQ: view

Pathways & Interactions for UQCRQ Gene

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

Gene Ontology (GO) - Biological Process for UQCRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0021539 subthalamus development IEA --
GO:0021548 pons development IEA --
GO:0021680 cerebellar Purkinje cell layer development IEA --
GO:0021766 hippocampus development IEA --
genes like me logo Genes that share ontologies with UQCRQ: view

No data available for SIGNOR curated interactions for UQCRQ Gene

Drugs & Compounds for UQCRQ Gene

(9) Drugs for UQCRQ 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 UQCRQ 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 UQCRQ: view

Transcripts for UQCRQ Gene

Unigene Clusters for UQCRQ Gene

Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
SP1: -
SP2: -
SP3:
SP4: - -
SP5: -

Relevant External Links for UQCRQ Gene

GeneLoc Exon Structure for
UQCRQ
ECgene alternative splicing isoforms for
UQCRQ

Expression for UQCRQ Gene

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

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

This gene is overexpressed in Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for UQCRQ Gene

This gene is overexpressed in Nasal epithelium (26.6) and Heart (8.8).

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



Protein tissue co-expression partners for UQCRQ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UQCRQ Gene:

UQCRQ

SOURCE GeneReport for Unigene cluster for UQCRQ Gene:

Hs.146602

Evidence on tissue expression from TISSUES for UQCRQ Gene

  • Heart(4.7)
  • Nervous system(4.7)
  • Liver(4.6)
  • Skin(4.3)
  • Muscle(2.7)
  • Kidney(2.2)
  • Adrenal gland(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCRQ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with UQCRQ: view

Primer Products

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

Orthologs for UQCRQ Gene

This gene was present in the common ancestor of animals.

Orthologs for UQCRQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UQCRQ 34 35
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia UQCRQ 34 35
  • 84.96 (n)
dog
(Canis familiaris)
Mammalia UQCRQ 34 35
  • 84.15 (n)
rat
(Rattus norvegicus)
Mammalia Uqcrq 34
  • 80.08 (n)
mouse
(Mus musculus)
Mammalia Uqcrq 34 16 35
  • 78.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UQCRQ 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UQCRQ 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858114 34
  • 65.45 (n)
-- 35
  • 62 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia UQCRQ 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcrq 34
  • 66.26 (n)
zebrafish
(Danio rerio)
Actinopterygii uqcrq 34 35
  • 62.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7580 34 35
  • 53.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010337 34
  • 53.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for UQCRQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UQCRQ Gene

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

Paralogs for UQCRQ Gene

Pseudogenes.org Pseudogenes for UQCRQ Gene

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

No data available for Paralogs for UQCRQ Gene

Variants for UQCRQ Gene

Sequence variations from dbSNP and Humsavar for UQCRQ Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs11544803 Pathogenic, Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159] 132,867,015(+) GGAGT(C/T)TTTCT upstream-variant-2KB, reference, missense
rs144996711 Likely benign 132,868,226(+) CTGTG(C/T)GCCTC upstream-variant-2KB, utr-variant-3-prime
rs17166297 Likely benign 132,868,305(+) TACAC(A/G)AATGA upstream-variant-2KB, utr-variant-3-prime
rs17624157 Likely benign 132,868,339(+) TTAAC(A/G)TATCC upstream-variant-2KB, utr-variant-3-prime
rs4415070 Likely benign 132,867,916(+) TTGGC(C/T)CTCTG upstream-variant-2KB, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv3606811 CNV gain 21293372
nsv5003 CNV deletion 18451855
nsv5004 CNV insertion 18451855
nsv830489 CNV loss 17160897

Variation tolerance for UQCRQ Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UQCRQ Gene

Human Gene Mutation Database (HGMD)
UQCRQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCRQ

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

Disorders for UQCRQ Gene

MalaCards: The human disease database

(4) MalaCards diseases for UQCRQ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 4
  • mitochondrial complex iii deficiency nuclear type 4
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial respiratory chain complex iii deficiency, uqcrq related
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search UQCRQ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

QCR8_HUMAN
  • Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:18439546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UQCRQ

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

No data available for Genatlas for UQCRQ Gene

Publications for UQCRQ Gene

  1. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (PMID: 18439546) Barel O. … Birk O.S. (Am. J. Hum. Genet. 2008) 3 4 22 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. 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
  4. Oxidative modification of mitochondrial respiratory complexes in response to the stress of Trypanosoma cruzi infection. (PMID: 15544925) Wen J.J. … Garg N. (Free Radic. Biol. Med. 2004) 2 3 64
  5. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. (PMID: 8592474) Schaegger H. … von Jagow G. (Methods Enzymol. 1995) 3 4 64

Products for UQCRQ Gene

Sources for UQCRQ Gene

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