UQCC1 - ubiquinol-cytochrome c reductase complex assembly factor 1 Gene

Also Known as BFZB; CBP3; UQCC; C20orf44

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55245

About UQCC1

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,302,578-35,411,973 (from NCBI)

This gene has 23 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in heart (RPKM 16.7), adrenal (RPKM 11.6) and 25 other tissues.

Summary

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, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

UQCC1 Products (3)

mRNA	Protein	Name
NM_001184977.2	NP_001171906.1	ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform c
NM_018244.5	NP_060714.3	ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform a
NM_199487.3	NP_955781.2	ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24385928	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex III assembly	IDA IDA: Inferred from direct assay	24385928	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	24385928	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

UQCC1 Protein Structure

Ubiq_cyt_C_chap

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
ubiquinol-cytochrome-c reductase complex assembly factor 1	bFGF-repressed Zic-binding protein

UQCC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UQCC1	Q9NVA1	ATN1	Homo sapiens	Q86V38	Validated Y2H	32814053
Intra	UQCC1	Q9NVA1	ATN1	Homo sapiens	Q86V38	Y2H Pooling	32814053
Intra	UQCC1	Q9NVA1	ATN1	Homo sapiens	Q86V38	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Acromesomelic Dysplasia 2c	Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia 2c, Hunter-Thompson Type AMD2C Acromesomelic Dwarfism Amdh Acromesomelic Dwarfism Acromesomelic Dysplasia-2c Acromesomelic Dysplasia Hunter Thompson Type Acromesomelic Chondrodysplasia, Hunter-Thompson Type Amdh Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson Acromesomelic Dysplasia Hunter-Thompson Type
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
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
Inverted Papilloma	Inverted Papilloma, Squamous Cell Papilloma Inverted Papilloma, Inverted Inverted Squamous Cell Papilloma
Acromesomelic Dysplasia 2b	Fibular Hypoplasia And Complex Brachydactyly Du Pan Syndrome AMD2B Dupans Acromesomelic Dysplasia-2b Fibular Aplasia-Complex Brachydactyly 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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15493	UQCC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21802	Uqcc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28318	Uqcc1 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	UQCC1	VGNC	VGNC:81255
Rattus norvegicus	UQCC1	RGD	RGD:1585681
Bos taurus	UQCC1	VGNC	VGNC:36691
Macaca mulatta	UQCC1	VGNC	VGNC:78989
Canis familiaris	UQCC1	VGNC	VGNC:48159
Mus musculus	UQCC1	MGD	MGI:1929472
Others	UQCC1	NCBI