UQCRB - ubiquinol-cytochrome c reductase binding protein Gene

Homo sapiens

Also known as QPC; QCR7; QP-C; UQBC; UQBP; UQPC; UQCR6; MC3DN3

Gene ID: 7381 | Gene type: protein coding

About UQCRB

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:96,222,947-96,235,545 (from NCBI)

This gene has 9 transcripts (splice variants), 273 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 51.3), kidney (RPKM 32.2) and 25 other tissues.

Summary

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

UQCRB Products(3)

mRNA	Protein	Name
NM_001199975.3	NP_001186904.1	cytochrome b-c1 complex subunit 7 isoform 2
NM_001254752.2	NP_001241681.1	cytochrome b-c1 complex subunit 7 isoform 3
NM_006294.5	NP_006285.1	cytochrome b-c1 complex subunit 7 isoform 1

UQCRB Protein Structure

UCR_14kD

0
100
111 a.a.

Protein Preferred Names

Protein Names

cytochrome b-c1 complex subunit 7

complex III subunit 7

Related Diseases

Diseases

Alias

Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 3	MC3DN3
Mitochondrial Complex Iii Deficiency, Nuclear 3

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency
Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Mitochondrial Complex Iii Deficiency, Nuclear Type 1

MC1DN3	Mitochondrial Complex Iii Deficiency Nuclear Type 1
MC3DN1	Mitochondrial Complex I Deficiency, Nuclear Type 3
Mitochondrial Complex 1 Deficiency, Nuclear Type 3	Nuclear Type Mitochondrial Complex I Deficiency 3
Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome	Mitochondrial Complex Iii Deficiency, Nuclear 1
Complex 3 Mitochondrial Respiratory Chain Deficiency	Complex Iii Mitochondrial Respiratory Chain Deficiency
Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ]

Isolated Complex Iii Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency	Isolated Coenzyme Q-Cytochrome C Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency	Isolated Ubiquinone-Cytochrome C Reductase Deficiency

Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome	Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
Flnms	Fellman Syndrome
Fellman Disease	Finnish Lactic Acidosis With Hepatic Hemosiderosis
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome	Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis	Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
GRACILE

Bjornstad Syndrome

BJS	Pili Torti And Nerve Deafness
Ptd	Pili Torti-Deafness Syndrome
Deafness-Pili Torti-Hypogonadism Syndrome	Deafness And Pili Torti, Bjornstad Type
Pili Torti-Sensorineural Hearing Loss	Björnstad Syndrome
Ptnd	Hearing Loss-Pili Torti-Hypogonadism Syndrome
Bjoernstad Syndrome

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15498	UQCRB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UQCRB	MGD	MGI:1914780
Rattus norvegicus	UQCRB	RGD	RGD:1311971
Bos taurus	UQCRB	VGNC	VGNC:36694
Macaca mulatta	UQCRB	VGNC	VGNC:84134

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