1. Gene
  2. UQCRC1 - ubiquinol-cytochrome c reductase core protein 1 Gene

UQCRC1 - ubiquinol-cytochrome c reductase core protein 1 Gene

Homo sapiens

Also known as QCR1; PKNPY; UQCR1; D3S3191

Gene ID: 7384 | Gene type: protein coding

About UQCRC1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,599,002-48,609,646 (from NCBI)

This gene has 10 transcripts (splice variants), 212 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues.

Summary

Enables ubiquitin protein Ligase binding activity. Predicted to be involved in Oxidative Phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]

UQCRC1 Products(1)

mRNA Protein Name
NM_003365.3 NP_003356.2 cytochrome b-c1 complex subunit 1, mitochondrial precursor
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32161263 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
19725078 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UQCRC1 Protein Structure

Peptidase_M16

Peptidase_M16: Insulinase (Peptidase family M16) (58 - 204)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (210 - 395)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 480 a.a.
Protein Preferred Names Protein Names

cytochrome b-c1 complex subunit 1, mitochondrial

complex III subunit 1

UQCRC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
UQCRC1 P31930 C2orf15 Homo sapiens Q8WU43 32814053
Intra
UQCRC1 P31930 C2orf15 Homo sapiens Q8WU43 32814053
Intra
UQCRC1 P31930 C2orf15 Homo sapiens Q8WU43 32814053
Intra
UQCRC1 P31930 THAP3 Homo sapiens Q8WTV1 32814053
Intra
UQCRC1 P31930 THAP3 Homo sapiens Q8WTV1 32814053
Intra
UQCRC1 P31930 THAP3 Homo sapiens Q8WTV1 32814053
Intra
UQCRC1 P31930 CCNJL Homo sapiens Q8IV13 32814053
Intra
UQCRC1 P31930 CCNJL Homo sapiens Q8IV13 32814053
Intra
UQCRC1 P31930 CCNJL Homo sapiens Q8IV13 32814053
Intra
UQCRC1 P31930 MIER1 Homo sapiens Q8N108-16 32814053
Intra
UQCRC1 P31930 MIER1 Homo sapiens Q8N108-16 32814053
Intra
UQCRC1 P31930 MIER1 Homo sapiens Q8N108-16 32814053
Intra
UQCRC1 P31930 NPHP1 Homo sapiens C9J082 32814053
Intra
UQCRC1 P31930 NPHP1 Homo sapiens C9J082 32814053
Intra
UQCRC1 P31930 NPHP1 Homo sapiens C9J082 32814053
Intra
UQCRC1 P31930 ARHGDIB Homo sapiens P52566 32814053
Intra
UQCRC1 P31930 ARHGDIB Homo sapiens P52566 32814053
Intra
UQCRC1 P31930 ARHGDIB Homo sapiens P52566 32814053
Intra
UQCRC1 P31930 PRMT5 Homo sapiens O14744 32814053
Intra
UQCRC1 P31930 PRMT5 Homo sapiens O14744 32814053
Intra
UQCRC1 P31930 PRMT5 Homo sapiens O14744 32814053
Intra
UQCRC1 P31930 ZNF232 Homo sapiens Q9UNY5 32814053
Intra
UQCRC1 P31930 ZNF232 Homo sapiens Q9UNY5 32814053
Intra
UQCRC1 P31930 ZNF232 Homo sapiens Q9UNY5 32814053
Intra
UQCRC1 P31930 BECN1 Homo sapiens Q14457 32814053
Intra
UQCRC1 P31930 BECN1 Homo sapiens Q14457 32814053
Intra
UQCRC1 P31930 BECN1 Homo sapiens Q14457 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Parkinsonism With Polyneuropathy

PKNPY

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Polyneuropathy

Polyneuropathies

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5

MC5DN3

Mitochondrial Complex Iii Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency Nuclear Type 3

MC3DN5

Mitochondrial Complex V Deficiency, Atp5e Type

Mitochondrial Complex Iii Deficiency, Nuclear 5

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex V Deficiency Atp5e Type

Mitochondrial Complex V Deficiency Type 3

Mitochondrial Complex V Deficiency, Nuclear, Type 3

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type

Mitochondrial Complex V Deficiency Nuclear Type 4

Cytochrome C Oxidase Deficiency, French Canadian Type

Lsfc

Cox Deficiency, French Canadian Type

MC5DN4

MC4DN5

Cox Deficiency, Saguenay-Lac-Saint-Jean Type

Leigh Syndrome, Saguenay-Lac-Saint-Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

French Canadian Leigh Disease

Leigh Syndrome, French-Canadian Type

Leigh Syndrome , French Canadian Type

Mitochondrial Complex V Deficiency, Atp5a1 Type

French Canadian Type Cox Deficiency

French Canadian Type Cytochrome C Oxidase Deficiency

French Canadian Type Leigh Syndrome

Saguenay Lac Saint Jean Type Cox Deficiency

Saguenay Lac Saint Jean Type Leigh Syndrome

Cox Deficiency, Saguenay Lac Saint Jean Type

Leigh Syndrome, Saguenay Lac Saint Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

Mitochondrial Complex V Deficiency Atp5a1 Type

Mitochondrial Complex V Deficiency Type 4

Mitochondrial Complex V Deficiency, Nuclear, Type 4

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus UQCRC1 RGD RGD:1303314
Macaca mulatta UQCRC1 VGNC VGNC:78729
Mus musculus UQCRC1 MGD MGI:107876
Felis catus UQCRC1 VGNC VGNC:66848
Bos taurus UQCRC1 VGNC VGNC:36695
Canis familiaris UQCRC1 VGNC VGNC:48163