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Aliases for UQCC3 Gene

Aliases for UQCC3 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3 2 3 5
  • Assembly Factor CBP4 Homolog 3 4
  • C11orf83 3 4
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 3 3
  • Chromosome 11 Open Reading Frame 83 2
  • UPF0723 Protein C11orf83 3
  • CCDS41658.1 3
  • MC3DN9 3
  • UNQ655 3

External Ids for UQCC3 Gene

Previous HGNC Symbols for UQCC3 Gene

  • C11orf83

Summaries for UQCC3 Gene

Entrez Gene Summary for UQCC3 Gene

  • Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]

GeneCards Summary for UQCC3 Gene

UQCC3 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3) is a Protein Coding gene. Diseases associated with UQCC3 include Mitochondrial Complex Iii Deficiency, Nuclear Type 9 and Mitochondrial Respiratory Chain Complex Iii Deficiency, Uqcc3-Related.

UniProtKB/Swiss-Prot for UQCC3 Gene

  • Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.

Additional gene information for UQCC3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCC3 Gene

Genomics for UQCC3 Gene

Regulatory Elements for UQCC3 Gene

Enhancers for UQCC3 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
GH11H062551 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -113.1 -113097 12 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF207 EML3 TUT1 MTA2 TAF6L NXF1 LOC105369332 WDR74 STX5 INTS5 TTC9C
GH11H062041 1.4 ENCODE dbSUPER 10.8 -624.8 -624846 8 PKNOX1 ARNT ZFP64 FEZF1 ZNF766 FOS SP3 ZC3H11A REST SREBF1 METTL12 CPSF7 SNHG1 GANAB LOC105369332 NXF1 TMEM138 TUT1 INTS5 MTA2
GH11H062712 1 ENCODE dbSUPER 11.1 +43.7 43653 3 FOXA2 MAX RAD21 YY1 FOSL1 ZNF316 ZNF600 NFE2 FOXA1 ZNF592 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3 EML3 ROM1
GH11H062694 0.7 ENCODE 11.7 +24.6 24592 1 CTCF RB1 BACH1 RAD21 CC2D1A POLR2A EGR1 SMC3 ZNF143 NFE2 BSCL2 TTC9C LBHD1 ENSG00000255432 METTL12 SNORA57 INTS5 GANAB UQCC3 EML3
GH11H062565 0.6 dbSUPER 10.5 -103.5 -103490 2 PAF1 ELF1 HNF1A ZNF316 POLR2A IKZF1 ZBTB33 IKZF2 SPI1 EML3 ENSG00000255508 TUT1 ENSG00000254964 MTA2 ENSG00000257058 ENSG00000250659 LOC102723765 SCGB1A1 ENSG00000255126
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UQCC3 on UCSC Golden Path with GeneCards custom track

Promoters for UQCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040458 1627 1801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF143 DEK

Genomic Location for UQCC3 Gene

Chromosome:
11
Start:
62,670,273 bp from pter
End:
62,673,690 bp from pter
Size:
3,418 bases
Orientation:
Plus strand

Genomic View for UQCC3 Gene

Genes around UQCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCC3 Gene

Proteins for UQCC3 Gene

  • Protein details for UQCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UW78-UQCC3_HUMAN
    Recommended name:
    Ubiquinol-cytochrome-c reductase complex assembly factor 3
    Protein Accession:
    Q6UW78
    Secondary Accessions:
    • Q5FVD5

    Protein attributes for UQCC3 Gene

    Size:
    93 amino acids
    Molecular mass:
    10081 Da
    Quaternary structure:
    • Associates with the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex).

neXtProt entry for UQCC3 Gene

Post-translational modifications for UQCC3 Gene

Other Protein References for UQCC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCC3 Gene

Domains & Families for UQCC3 Gene

Gene Families for UQCC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for UQCC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UW78

UniProtKB/Swiss-Prot:

UQCC3_HUMAN :
  • Belongs to the UQCC3 family.
Family:
  • Belongs to the UQCC3 family.
genes like me logo Genes that share domains with UQCC3: view

Function for UQCC3 Gene

Molecular function for UQCC3 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), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.

Phenotypes From GWAS Catalog for UQCC3 Gene

Gene Ontology (GO) - Molecular Function for UQCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070300 phosphatidic acid binding IDA 25605331
GO:1901612 cardiolipin binding IDA 25605331
genes like me logo Genes that share ontologies with UQCC3: view

Phenotypes for UQCC3 Gene

GenomeRNAi human phenotypes for UQCC3:
genes like me logo Genes that share phenotypes with UQCC3: view

Human Phenotype Ontology for UQCC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for UQCC3

CRISPR Products

miRNA for UQCC3 Gene

miRTarBase miRNAs that target UQCC3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UQCC3
  • Applied Biological Materials Clones for UQCC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCC3 Gene

Localization for UQCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCC3 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

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 UQCC3 gene
Compartment Confidence
mitochondrion 5
extracellular 3
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for UQCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0005750 colocalizes_with mitochondrial respiratory chain complex III IDA 25605331
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 25008109
genes like me logo Genes that share ontologies with UQCC3: view

Pathways & Interactions for UQCC3 Gene

SuperPathways for UQCC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UQCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c IMP 25008109
GO:0006754 ATP biosynthetic process IEA --
GO:0034551 mitochondrial respiratory chain complex III assembly IMP 25605331
GO:0042407 cristae formation IMP 25605331
GO:0097033 mitochondrial respiratory chain complex III biogenesis IMP 25008109
genes like me logo Genes that share ontologies with UQCC3: view

No data available for Pathways by source and SIGNOR curated interactions for UQCC3 Gene

Drugs & Compounds for UQCC3 Gene

No Compound Related Data Available

Transcripts for UQCC3 Gene

mRNA/cDNA for UQCC3 Gene

(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UQCC3
  • Applied Biological Materials Clones for UQCC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UQCC3 Gene

No ASD Table

Relevant External Links for UQCC3 Gene

GeneLoc Exon Structure for
UQCC3
ECgene alternative splicing isoforms for
UQCC3

Expression for UQCC3 Gene

Protein differential expression in normal tissues from HIPED for UQCC3 Gene

This gene is overexpressed in Pancreas (28.8), Breast (22.2), and Bone (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UQCC3 Gene



NURSA nuclear receptor signaling pathways regulating expression of UQCC3 Gene:

UQCC3

Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCC3 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

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for UQCC3 Gene

Orthologs for UQCC3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for UQCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11ORF83 34
  • 100 (a)
OneToOne
C11H11orf83 33
  • 100 (n)
dog
(Canis familiaris)
Mammalia C18H11orf83 33
  • 82.58 (n)
C11orf83 34
  • 68 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C29H11orf83 33
  • 79.42 (n)
C11orf83 34
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690344 33
  • 69.92 (n)
mouse
(Mus musculus)
Mammalia AI462493 33 34
  • 69.11 (n)
Uqcc3 16
oppossum
(Monodelphis domestica)
Mammalia C11orf83 34
  • 52 (a)
OneToOne
Species where no ortholog for UQCC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for UQCC3 Gene

ENSEMBL:
Gene Tree for UQCC3 (if available)
TreeFam:
Gene Tree for UQCC3 (if available)

Paralogs for UQCC3 Gene

No data available for Paralogs for UQCC3 Gene

Variants for UQCC3 Gene

Sequence variations from dbSNP and Humsavar for UQCC3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs606231426 Pathogenic, Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111] 62,671,804(+) TGGCG(A/T)GGGCT upstream-variant-2KB, reference, missense
rs1001545821 -- 62,672,222(+) CATGC(C/T)AGGAC upstream-variant-2KB, utr-variant-3-prime
rs1002205940 -- 62,672,661(+) ACCAA(C/G)CCCAG upstream-variant-2KB, utr-variant-3-prime
rs1002570642 -- 62,672,533(+) AGACG(C/G)AGTCA upstream-variant-2KB, utr-variant-3-prime
rs1002810598 -- 62,673,958(+) CCGCC(A/G)TGCCT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for UQCC3 Gene

Variant ID Type Subtype PubMed ID
nsv555174 CNV gain 21841781
nsv832182 CNV gain+loss 17160897

Variation tolerance for UQCC3 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UQCC3 Gene

Human Gene Mutation Database (HGMD)
UQCC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCC3 Gene

Disorders for UQCC3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UQCC3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 9
  • mitochondrial complex iii deficiency nuclear type 9
mitochondrial respiratory chain complex iii deficiency, uqcc3-related
  • mitochondrial complex iii deficiency, nuclear type 9
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
- elite association - COSMIC cancer census association via MalaCards
Search UQCC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UQCC3_HUMAN
  • Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. {ECO:0000269 PubMed:25008109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UQCC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UQCC3
genes like me logo Genes that share disorders with UQCC3: view

No data available for Genatlas for UQCC3 Gene

Publications for UQCC3 Gene

  1. C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization. (PMID: 25605331) Desmurs M … Lane L (Molecular and cellular biology 2015) 2 3 4 60
  2. A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. (PMID: 25008109) Wanschers BF … Huynen MA (Human molecular genetics 2014) 2 3 4 60
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 60
  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 60
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 60

Products for UQCC3 Gene

  • Addgene plasmids for UQCC3

Sources for UQCC3 Gene

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