UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55245
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquinol-cytochrome c reductase complex assembly factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UQCC1
Synonyms (NCBI Gene) Gene synonyms aliases
BFZB, C20orf44, CBP3, UQCC
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymo
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT741970 hsa-miR-665 HITS-CLIP 23824327
MIRT741971 hsa-miR-590-3p HITS-CLIP 23824327
MIRT741972 hsa-miR-885-5p HITS-CLIP 23824327
MIRT741973 hsa-miR-4775 HITS-CLIP 23824327
MIRT741974 hsa-miR-587 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24385928, 32814053, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 24385928
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611797 15891 ENSG00000101019
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NVA1
Protein name Ubiquinol-cytochrome c reductase complex assembly factor 1 (Basic FGF-repressed Zic-binding protein) (bFGF-repressed Zic-binding protein) (bFZb) (Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog)
Protein function Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03981 Ubiq_cyt_C_chap 135 → 275 Ubiquinol-cytochrome C chaperone Family
Sequence 
MALLVRVLRNQTSISQWVPVCSRLIPVSPTQGQGDRALSRTSQWPQMSQSRACGGSEQIP
GIDIQLNRKYHTTRKLSTTKDSPQPVEEKVGAFTKIIEAMGFTGPLKYSKWKIKIAALRM
YTSCVEKTDFEEFFLRCQMPDTFNSWFLITLLHVWMCLVRMKQEGRSGKYMCRIIVHFMW
EDVQQRGRVMGVNPYILKKNMILMTNHFYAAILGYDEGILSDDHGLAAALWRTFFNRKCE
DPRHLELLVEYVRKQIQYLDSMNGEDLLLTGEVSWRPLVEKNPQSILKPHSPTYNDEGL
Sequence length 299
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 23207799
Developmental Dysplasia of the Hip Associate 25848760
Mitochondrial Complex III Deficiency Associate 24385928
Neoplasms Associate 25424858
Osteoarthritis Associate 37579195
Testicular Germ Cell Tumor Associate 21233139