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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 2

Gene

UQCC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinol-cytochrome-c reductase complex assembly factor 2
Alternative name(s):
Breast cancer-associated protein SGA-81M
Mitochondrial nucleoid factor 1
Mitochondrial protein M19
Gene namesi
Name:UQCC2
Synonyms:C6orf125, MNF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000137288.9
HGNCiHGNC:21237 UQCC2
MIMi614461 gene
neXtProtiNX_Q9BRT2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoid

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 7 (MC3DN7)1 Publication
The disease is caused by mutations 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.
See also OMIM:615824

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNETi84300
MalaCardsiUQCC2
MIMi615824 phenotype
OpenTargetsiENSG00000137288
Orphaneti1460 Isolated CoQ-cytochrome C reductase deficiency
PharmGKBiPA134970806

Polymorphism and mutation databases

DMDMi73917719

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 13MitochondrionBy similarityAdd BLAST13
ChainiPRO_000008952614 – 126Ubiquinol-cytochrome-c reductase complex assembly factor 2Add BLAST113

Proteomic databases

EPDiQ9BRT2
MaxQBiQ9BRT2
PaxDbiQ9BRT2
PeptideAtlasiQ9BRT2
PRIDEiQ9BRT2
TopDownProteomicsiQ9BRT2

PTM databases

iPTMnetiQ9BRT2
PhosphoSitePlusiQ9BRT2
SwissPalmiQ9BRT2

Expressioni

Tissue specificityi

Pancreas, skeletal muscle, kidney, liver and heart.1 Publication

Gene expression databases

BgeeiENSG00000137288
CleanExiHS_C6orf125
ExpressionAtlasiQ9BRT2 baseline and differential
GenevisibleiQ9BRT2 HS

Organism-specific databases

HPAiHPA039111

Interactioni

Subunit structurei

Interacts with UQCC1.1 Publication

Protein-protein interaction databases

BioGridi124026, 29 interactors
IntActiQ9BRT2, 6 interactors
STRINGi9606.ENSP00000363348

Structurei

3D structure databases

ProteinModelPortaliQ9BRT2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IWE9 Eukaryota
ENOG4111QCC LUCA
GeneTreeiENSGT00510000048041
HOGENOMiHOG000007950
HOVERGENiHBG058554
InParanoidiQ9BRT2
KOiK17682
OMAiKCDQMYE
OrthoDBiEOG091G146S
PhylomeDBiQ9BRT2
TreeFamiTF333267

Family and domain databases

InterProiView protein in InterPro
IPR037698 UQCC2
PANTHERiPTHR34260 PTHR34260, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9BRT2-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:126
Mass (Da):14,875
Last modified:June 1, 2001 - v1
Checksum:i7B840C1AAC74D797
GO

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
CCDSiCCDS4784.1
RefSeqiNP_115716.1, NM_032340.3
UniGeneiHs.732448
Hs.745020

Genome annotation databases

EnsembliENST00000607484; ENSP00000476140; ENSG00000137288
GeneIDi84300
KEGGihsa:84300
UCSCiuc003ofa.3 human

Similar proteinsi

Entry informationi

Entry nameiUQCC2_HUMAN
AccessioniPrimary (citable) accession number: Q9BRT2
Secondary accession number(s): B2R4I0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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