UniProtKB - Q9BRT2 (UQCC2_HUMAN)
Protein
Ubiquinol-cytochrome-c reductase complex assembly factor 2
Gene
UQCC2
Organism
Homo sapiens (Human)
Status
Functioni
Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.2 Publications
GO - Biological processi
- mitochondrial respiratory chain complex III assembly Source: UniProtKB
- positive regulation of cellular protein catabolic process Source: UniProtKB
- positive regulation of mitochondrial translation Source: UniProtKB
- regulation of insulin secretion Source: UniProtKB
- regulation of oxidative phosphorylation Source: UniProtKB
- regulation of skeletal muscle cell differentiation Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9BRT2 |
Names & Taxonomyi
Protein namesi | Recommended name: Ubiquinol-cytochrome-c reductase complex assembly factor 2Alternative name(s): Breast cancer-associated protein SGA-81M Mitochondrial nucleoid factor 1 Mitochondrial protein M19 |
Gene namesi | Name:UQCC2 Synonyms:C6orf125, MNF1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21237, UQCC2 |
MIMi | 614461, gene |
neXtProti | NX_Q9BRT2 |
VEuPathDBi | HostDB:ENSG00000137288.9 |
Subcellular locationi
Mitochondrion
- mitochondrion nucleoid
- Mitochondrion
- Mitochondrion intermembrane space By similarity
- Mitochondrion matrix By similarity
- Mitochondrion inner membrane By similarity
Note: Predominantly expressed in the mitochondrial inner membrane.By similarity
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrial intermembrane space Source: UniProtKB
- mitochondrial matrix Source: UniProtKB
- mitochondrial nucleoid Source: UniProtKB
- mitochondrion Source: UniProtKB
Nucleus
- nuclear body Source: HPA
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoidPathology & Biotechi
Involvement in diseasei
Mitochondrial complex III deficiency, nuclear 7 (MC3DN7)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.
Related information in OMIMKeywords - Diseasei
Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 84300 |
MalaCardsi | UQCC2 |
MIMi | 615824, phenotype |
OpenTargetsi | ENSG00000137288 |
Orphaneti | 1460, Isolated complex III deficiency |
PharmGKBi | PA134970806 |
Miscellaneous databases
Pharosi | Q9BRT2, Tbio |
Genetic variation databases
BioMutai | UQCC2 |
DMDMi | 73917719 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 13 | MitochondrionBy similarityAdd BLAST | 13 | |
ChainiPRO_0000089526 | 14 – 126 | Ubiquinol-cytochrome-c reductase complex assembly factor 2Add BLAST | 113 |
Proteomic databases
EPDi | Q9BRT2 |
jPOSTi | Q9BRT2 |
MassIVEi | Q9BRT2 |
MaxQBi | Q9BRT2 |
PaxDbi | Q9BRT2 |
PeptideAtlasi | Q9BRT2 |
PRIDEi | Q9BRT2 |
ProteomicsDBi | 78827 |
TopDownProteomicsi | Q9BRT2 |
PTM databases
iPTMneti | Q9BRT2 |
PhosphoSitePlusi | Q9BRT2 |
SwissPalmi | Q9BRT2 |
Expressioni
Tissue specificityi
Pancreas, skeletal muscle, kidney, liver and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000137288, Expressed in apex of heart and 211 other tissues |
ExpressionAtlasi | Q9BRT2, baseline and differential |
Genevisiblei | Q9BRT2, HS |
Organism-specific databases
HPAi | ENSG00000137288, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with UQCC1.
1 PublicationBinary interactionsi
Hide detailsQ9BRT2
Protein-protein interaction databases
BioGRIDi | 124026, 42 interactors |
IntActi | Q9BRT2, 33 interactors |
STRINGi | 9606.ENSP00000476140 |
Miscellaneous databases
RNActi | Q9BRT2, protein |
Family & Domainsi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | ENOG502S2M4, Eukaryota |
GeneTreei | ENSGT00510000048041 |
HOGENOMi | CLU_162766_0_0_1 |
InParanoidi | Q9BRT2 |
OMAi | QQSMDEE |
OrthoDBi | 1508191at2759 |
PhylomeDBi | Q9BRT2 |
TreeFami | TF333267 |
Family and domain databases
InterProi | View protein in InterPro IPR037698, UQCC2 |
PANTHERi | PTHR34260, PTHR34260, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9BRT2-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAASRYRRFL KLCEEWPVDE TKRGRDLGAY LRQRVAQAFR EGENTQVAEP
60 70 80 90 100
EACDQMYESL ARLHSNYYKH KYPRPRDTSF SGLSLEEYKL ILSTDTLEEL
110 120
KEIDKGMWKK LQEKFAPKGP EEDHKA
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5TAQ0 | Q5TAQ0_HUMAN | Mitochondrial nucleoid factor 1 | UQCC2 | 101 | Annotation score: | ||
V5IRT4 | V5IRT4_HUMAN | Mitochondrial nucleoid factor 1 | UQCC2 | 126 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY568085 mRNA Translation: AAS68365.1 AK311835 mRNA Translation: BAG34777.1 AL139044 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03745.1 BC006007 mRNA Translation: AAH06007.1 |
CCDSi | CCDS4784.1 |
RefSeqi | NP_115716.1, NM_032340.3 |
Genome annotation databases
Ensembli | ENST00000607484; ENSP00000476140; ENSG00000137288 |
GeneIDi | 84300 |
KEGGi | hsa:84300 |
UCSCi | uc003ofa.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY568085 mRNA Translation: AAS68365.1 AK311835 mRNA Translation: BAG34777.1 AL139044 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03745.1 BC006007 mRNA Translation: AAH06007.1 |
CCDSi | CCDS4784.1 |
RefSeqi | NP_115716.1, NM_032340.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124026, 42 interactors |
IntActi | Q9BRT2, 33 interactors |
STRINGi | 9606.ENSP00000476140 |
PTM databases
iPTMneti | Q9BRT2 |
PhosphoSitePlusi | Q9BRT2 |
SwissPalmi | Q9BRT2 |
Genetic variation databases
BioMutai | UQCC2 |
DMDMi | 73917719 |
Proteomic databases
EPDi | Q9BRT2 |
jPOSTi | Q9BRT2 |
MassIVEi | Q9BRT2 |
MaxQBi | Q9BRT2 |
PaxDbi | Q9BRT2 |
PeptideAtlasi | Q9BRT2 |
PRIDEi | Q9BRT2 |
ProteomicsDBi | 78827 |
TopDownProteomicsi | Q9BRT2 |
Protocols and materials databases
Antibodypediai | 64241, 51 antibodies |
Genome annotation databases
Ensembli | ENST00000607484; ENSP00000476140; ENSG00000137288 |
GeneIDi | 84300 |
KEGGi | hsa:84300 |
UCSCi | uc003ofa.3, human |
Organism-specific databases
CTDi | 84300 |
DisGeNETi | 84300 |
GeneCardsi | UQCC2 |
HGNCi | HGNC:21237, UQCC2 |
HPAi | ENSG00000137288, Low tissue specificity |
MalaCardsi | UQCC2 |
MIMi | 614461, gene 615824, phenotype |
neXtProti | NX_Q9BRT2 |
OpenTargetsi | ENSG00000137288 |
Orphaneti | 1460, Isolated complex III deficiency |
PharmGKBi | PA134970806 |
VEuPathDBi | HostDB:ENSG00000137288.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S2M4, Eukaryota |
GeneTreei | ENSGT00510000048041 |
HOGENOMi | CLU_162766_0_0_1 |
InParanoidi | Q9BRT2 |
OMAi | QQSMDEE |
OrthoDBi | 1508191at2759 |
PhylomeDBi | Q9BRT2 |
TreeFami | TF333267 |
Enzyme and pathway databases
PathwayCommonsi | Q9BRT2 |
Miscellaneous databases
BioGRID-ORCSi | 84300, 99 hits in 866 CRISPR screens |
ChiTaRSi | UQCC2, human |
GenomeRNAii | 84300 |
Pharosi | Q9BRT2, Tbio |
PROi | PR:Q9BRT2 |
RNActi | Q9BRT2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137288, Expressed in apex of heart and 211 other tissues |
ExpressionAtlasi | Q9BRT2, baseline and differential |
Genevisiblei | Q9BRT2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR037698, UQCC2 |
PANTHERi | PTHR34260, PTHR34260, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | UQCC2_HUMAN | |
Accessioni | Q9BRT2Primary (citable) accession number: Q9BRT2 Secondary accession number(s): B2R4I0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 30, 2005 |
Last sequence update: | June 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 139 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot