Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7384
Gene name	Ubiquinol-cytochrome c reductase core protein 1
Gene symbol	UQCRC1
Synonyms (NCBI Gene)	D3S3191PKNPYQCR1UQCR1
Chromosome	3
Chromosome location	3p21.31

Show/Hide all (76)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050603	hsa-miR-20a-5p	CLASH	23622248
MIRT048908	hsa-miR-93-5p	CLASH	23622248
MIRT048017	hsa-miR-30c-5p	CLASH	23622248
MIRT047130	hsa-miR-183-5p	CLASH	23622248
MIRT047130	hsa-miR-183-5p	CLASH	23622248
MIRT036834	hsa-miR-877-3p	CLASH	23622248
MIRT036243	hsa-miR-320b	CLASH	23622248
MIRT036152	hsa-miR-1296-5p	CLASH	23622248
MIRT2143617	hsa-miR-1290	CLIP-seq
MIRT2143618	hsa-miR-214	CLIP-seq
MIRT2143619	hsa-miR-2467-3p	CLIP-seq
MIRT2143620	hsa-miR-3619-5p	CLIP-seq
MIRT2143621	hsa-miR-4291	CLIP-seq
MIRT2143622	hsa-miR-761	CLIP-seq
MIRT2143623	hsa-miR-922	CLIP-seq
MIRT2143617	hsa-miR-1290	CLIP-seq
MIRT2143618	hsa-miR-214	CLIP-seq
MIRT2143619	hsa-miR-2467-3p	CLIP-seq
MIRT2143620	hsa-miR-3619-5p	CLIP-seq
MIRT2143621	hsa-miR-4291	CLIP-seq
MIRT2143622	hsa-miR-761	CLIP-seq
MIRT2143623	hsa-miR-922	CLIP-seq
MIRT2657649	hsa-miR-1291	CLIP-seq
MIRT2657650	hsa-miR-302a	CLIP-seq
MIRT2657651	hsa-miR-302b	CLIP-seq
MIRT2657652	hsa-miR-302c	CLIP-seq
MIRT2657653	hsa-miR-302d	CLIP-seq
MIRT2657654	hsa-miR-302e	CLIP-seq
MIRT2657655	hsa-miR-3125	CLIP-seq
MIRT2657656	hsa-miR-3144-5p	CLIP-seq
MIRT2657657	hsa-miR-3173-5p	CLIP-seq
MIRT2657658	hsa-miR-372	CLIP-seq
MIRT2657659	hsa-miR-373	CLIP-seq
MIRT2657660	hsa-miR-376c	CLIP-seq
MIRT2657661	hsa-miR-3916	CLIP-seq
MIRT2657662	hsa-miR-4290	CLIP-seq
MIRT2657663	hsa-miR-4447	CLIP-seq
MIRT2657664	hsa-miR-4472	CLIP-seq
MIRT2657665	hsa-miR-4537	CLIP-seq
MIRT2657666	hsa-miR-4707-5p	CLIP-seq
MIRT2657667	hsa-miR-512-3p	CLIP-seq
MIRT2657668	hsa-miR-520a-3p	CLIP-seq
MIRT2657669	hsa-miR-520b	CLIP-seq
MIRT2657670	hsa-miR-520c-3p	CLIP-seq
MIRT2657671	hsa-miR-520d-3p	CLIP-seq
MIRT2657672	hsa-miR-520e	CLIP-seq
MIRT2657673	hsa-miR-541	CLIP-seq
MIRT2657674	hsa-miR-654-5p	CLIP-seq
MIRT2657675	hsa-miR-877	CLIP-seq
MIRT2657649	hsa-miR-1291	CLIP-seq
MIRT2657650	hsa-miR-302a	CLIP-seq
MIRT2657651	hsa-miR-302b	CLIP-seq
MIRT2657652	hsa-miR-302c	CLIP-seq
MIRT2657653	hsa-miR-302d	CLIP-seq
MIRT2657654	hsa-miR-302e	CLIP-seq
MIRT2657655	hsa-miR-3125	CLIP-seq
MIRT2657656	hsa-miR-3144-5p	CLIP-seq
MIRT2657657	hsa-miR-3173-5p	CLIP-seq
MIRT2657658	hsa-miR-372	CLIP-seq
MIRT2657659	hsa-miR-373	CLIP-seq
MIRT2657660	hsa-miR-376c	CLIP-seq
MIRT2657661	hsa-miR-3916	CLIP-seq
MIRT2657662	hsa-miR-4290	CLIP-seq
MIRT2657663	hsa-miR-4447	CLIP-seq
MIRT2657664	hsa-miR-4472	CLIP-seq
MIRT2657665	hsa-miR-4537	CLIP-seq
MIRT2657666	hsa-miR-4707-5p	CLIP-seq
MIRT2657667	hsa-miR-512-3p	CLIP-seq
MIRT2657668	hsa-miR-520a-3p	CLIP-seq
MIRT2657669	hsa-miR-520b	CLIP-seq
MIRT2657670	hsa-miR-520c-3p	CLIP-seq
MIRT2657671	hsa-miR-520d-3p	CLIP-seq
MIRT2657672	hsa-miR-520e	CLIP-seq
MIRT2657673	hsa-miR-541	CLIP-seq
MIRT2657674	hsa-miR-654-5p	CLIP-seq
MIRT2657675	hsa-miR-877	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32161263, 32814053, 35101990
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006119	Process	Oxidative phosphorylation	TAS	8407948
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IEA
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	NAS	28844695
GO:0008121	Function	Quinol-cytochrome-c reductase activity	TAS	8407948
GO:0009060	Process	Aerobic respiration	TAS	8407948
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078
GO:0043279	Process	Response to alkaloid	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045275	Component	Respiratory chain complex III	IEA
GO:0045333	Process	Cellular respiration	NAS	28844695
GO:0046872	Function	Metal ion binding	IEA
GO:0098803	Component	Respiratory chain complex	IEA
GO:0098803	Component	Respiratory chain complex	TAS	8407948
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
191328	12585	ENSG00000010256

P31930

Protein name

Cytochrome b-c1 complex subunit 1, mitochondrial (Complex III subunit 1) (Core protein I) (Ubiquinol-cytochrome-c reductase complex core protein 1)

Protein function

Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complex

PDB

5XTE , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00675	Peptidase_M16	58 → 205	Insulinase (Peptidase family M16)	Family
PF05193	Peptidase_M16_C	210 → 395	Peptidase M16 inactive domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, including substantia nigra, striatum, cortex and cerebellum, and in spinal cord, heart, kidney, liver and muscle. {ECO:0000269|PubMed:33141179}.

Sequence

MAASVVCRAATAGAQVLLRARRSPALLRTPALRSTATFAQALQFVPETQVSLLDNGLRVA
SEQSSQPTCTVGVWIDVGSRFETEKNNGAGYFLEHLAFKGTKNRPGSALEKEVESMGAHL
NAYSTREHTAYYIKALSKDLPKAVELLGDIVQNCSLEDSQIEKERDVILREMQENDASMR
DVVFNYLHATAFQGTPLAQAVEGPSENVRKLSRADLTEYLSTHYKAPRMVLAAAGGVEHQ
QLLDLAQKHLGGIPWTYAEDAVPTLTPCRFTGSEIRHRDDALPFAHVAIAVEGPGWASPD
NVALQVANAIIGHYDCTYGGGVHLSSPLASGAVANKLCQSFQTFSICYAETGLLGAHFVC
DRMKIDDMMFVLQGQWMRLCTSATESEVARGKNILRNALVSHLDGTTPVCEDIGRSLLTY
GRRIPLAEWESRIAEVDASVVREICSKYIYDQCPAVAGYGPIEQLPDYNRIRSGMFWLRF

Sequence length

480

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction Thermogenesis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypertrophic cardiomyopathy	Likely pathogenic	rs201911056	RCV001199396	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonism with polyneuropathy	Pathogenic; Likely pathogenic	rs780978963, rs2107843274, rs2531442889	RCV001374692 RCV001374693 RCV003236751	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UQCRC1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	26125932, 31377428, 35788655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27845902	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30842031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38378070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27845902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16637013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36782329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16775426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32302684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27941907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27845902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27845902, 33576442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	39752790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31276465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31276465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16775426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16775426	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34439877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33248804, 36593912, 39752790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	30788857, 33070102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30788857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	33070102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	33070102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265, 19165527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27941907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27941907	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

UQCRC1 (ubiquinol-cytochrome c reductase core protein 1)