UQCRC1 - ubiquinol-cytochrome c reductase core protein 1 Gene

Also Known as QCR1; PKNPY; UQCR1; D3S3191

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7384

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
Molecular Function GO Annotation Evidence References 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 References 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 References
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

UQCRC1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84257 UQCRC1 Antibody (YA3954) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat
HY-P84257A UQCRC1 Antibody (YA3954)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat

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
Others UQCRC1 NCBI