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] See more...

Aliases for UQCC3 Gene

Aliases for UQCC3 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 3 3 4
  • Assembly Factor CBP4 Homolog 3 4
  • C11orf83 3 4
  • 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 Isolated Complex Iii Deficiency.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for UQCC3 Gene

Genomics for UQCC3 Gene

GeneHancer (GH) Regulatory Elements for UQCC3 Gene

Promoters and enhancers for UQCC3 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
GH11J062669 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +1.2 1216 4.2 GTF3C2 SIN3A SP1 ZBTB40 FOXA1 RBPJ POLR2A NR2F6 HCFC1 ZNF362 LBHD1 UQCC3 lnc-C11orf98-2 WDR74 NXF1 EML3 GANAB CSKMT INTS5 ENSG00000256690
GH11J062550 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -113.2 -113173 14.2 SIN3A ZBTB40 SP1 CTCF ZBTB6 SMARCE1 POLR2A ZNF217 CREB1 MIXL1 AHNAK EML3 NXF1 MTA2 WDR74 UBXN1 INTS5 CSKMT TUT1 GANAB
GH11J062712 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 11.1 +43.8 43812 3.8 FOXA1 SP1 CBFA2T2 MLLT1 PRDM1 RXRA FOXA2 ZNF316 NR2C1 JUND piR-45619 HNRNPUL2 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3
GH11J062041 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.8 -624.9 -624872 8.4 ZBTB40 SREBF1 SMARCE1 POLR2A ZNF217 RUNX1 CC2D1A ELF1 L3MBTL2 DACH1 CSKMT SNHG1 CPSF7 GANAB TAF6L ENSG00000256690 MTA2 TMEM138 NXF1 TUT1
GH11J062694 Enhancer 0.9 Ensembl ENCODE 11.7 +24.6 24592 1.1 CTCF CC2D1A RAD21 EGR1 ARID2 REST BACH1 TRIM22 ZNF143 ZNF561 BSCL2 TTC9C LBHD1 SNORA57 CSKMT ENSG00000255432 INTS5 GANAB UQCC3 EML3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UQCC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for UQCC3 Gene

Genomic Locations for UQCC3 Gene
chr11:62,670,273-62,673,690
(GRCh38/hg38)
Size:
3,418 bases
Orientation:
Plus strand
chr11:62,437,745-62,441,162
(GRCh37/hg19)
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

  • Probably cleaved by OMA1 under mitochondrial stress conditions.
  • Glycosylation at Thr56, Thr63, Thr69, and Thr70
  • Ubiquitination at Lys40
  • Modification sites at PhosphoSitePlus

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:
  • UPF0723 protein C11orf83 (CK083_HUMAN)

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

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

Clone Products

  • Addgene plasmids for UQCC3

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 2
nucleus 2
cytosol 2
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

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,IBA 25008109
genes like me logo Genes that share ontologies with UQCC3: view

Pathways & Interactions for UQCC3 Gene

PathCards logo

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
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 :
(7) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for UQCC3

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 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
Regions:
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

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 33
  • 100 (a)
OneToOne
C11H11orf83 32
  • 100 (n)
dog
(Canis familiaris)
Mammalia C18H11orf83 32
  • 82.58 (n)
C11orf83 33
  • 68 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C29H11orf83 32
  • 79.42 (n)
C11orf83 33
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690344 32
  • 69.92 (n)
mouse
(Mus musculus)
Mammalia AI462493 33 32
  • 69.11 (n)
OneToOne
Uqcc3 17
oppossum
(Monodelphis domestica)
Mammalia C11orf83 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UQCC3: view image

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 Variation AA Info Type
rs143509965 likely-benign, benign, not provided, not specified 62,672,058(+) T/G coding_sequence_variant, missense_variant
rs606231426 pathogenic, Mitochondrial complex III deficiency, nuclear type 9, Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111] 62,671,804(+) T/A coding_sequence_variant, missense_variant
rs1057523079 likely-benign, not specified 62,672,125(+) G/A 3_prime_UTR_variant
rs776099710 likely-benign, not specified 62,671,705(+) G/A/C/T 5_prime_UTR_variant
rs13941 benign, not specified 62,672,097(+) G/A coding_sequence_variant, missense_variant

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)

Additional Variant Information for UQCC3 Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 9
  • mc3dn9
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
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.

Additional Disease Information for 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 56
  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 56
  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 56
  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 56
  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 56

Products for UQCC3 Gene

Sources for UQCC3 Gene