UQCC3 (ubiquinol-cytochrome c reductase complex assembly factor 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 790955
Gene name Ubiquinol-cytochrome c reductase complex assembly factor 3
Gene symbol UQCC3
Synonyms (NCBI Gene)
C11orf83CCDS41658.1MC3DN9UNQ655
Chromosome 11
Chromosome location 11q12.3
Summary 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 deficienc
miRNA miRNA information provided by mirtarbase database.
206
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (206)
miRTarBase ID miRNA Experiments Reference
MIRT753910 hsa-miR-1287-5p PAR-CLIP 26701625
MIRT753902 hsa-miR-1915-3p PAR-CLIP 26701625
MIRT753911 hsa-miR-25-5p PAR-CLIP 26701625
MIRT755162 hsa-miR-302f PAR-CLIP 26701625
MIRT753909 hsa-miR-3135b PAR-CLIP 26701625
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616097 34399 ENSG00000204922
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UW78
Protein name Ubiquinol-cytochrome-c reductase complex assembly factor 3 (Assembly factor CBP4 homolog)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15141 UQCC3 1 → 91 Ubiquinol-cytochrome-c reductase complex assembly factor 3 Family
Sequence
Sequence length 93
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex III deficiency nuclear type 9 Pathogenic rs606231426 RCV000148301
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 — Disgenet, HPO
Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Global developmental delay Developmental Delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Isolated complex III deficiency Isolated Complex III Deficiency Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) Mitochondrial Complex Deficiency CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 Mitochondrial Complex Deficiency UNIPROT_DG 25008109
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 Mitochondrial Complex Deficiency GENOMICS_ENGLAND_DG 25008109, 28804536
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 Mitochondrial Complex Deficiency CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations