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Protein

Cytochrome b-c1 complex subunit 2, mitochondrial

Gene

UQCRC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex.

GO - Molecular functioni

GO - Biological processi

  • aerobic respiration Source: ProtInc
  • mitochondrial electron transport, ubiquinol to cytochrome c Source: Reactome
  • oxidative phosphorylation Source: ProtInc
  • protein processing involved in protein targeting to mitochondrion Source: GO_Central

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiR-HSA-611105. Respiratory electron transport.
SignaLinkiP22695.

Protein family/group databases

MEROPSiM16.974.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-c1 complex subunit 2, mitochondrial
Alternative name(s):
Complex III subunit 2
Core protein II
Ubiquinol-cytochrome-c reductase complex core protein 2
Gene namesi
Name:UQCRC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000140740.10.
HGNCiHGNC:12586. UQCRC2.

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

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 5 (MC3DN5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
See also OMIM:615160
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069709183R → W in MC3DN5. 1 PublicationCorresponds to variant dbSNP:rs374661051Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi7385.
MalaCardsiUQCRC2.
MIMi615160. phenotype.
OpenTargetsiENSG00000140740.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA37217.

Chemistry databases

DrugBankiDB08453. 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE.
DB07778. FAMOXADONE.
DB07401. METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE.
DB08330. METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE.
DB08690. UBIQUINONE-2.

Polymorphism and mutation databases

BioMutaiUQCRC2.
DMDMi21903482.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 14MitochondrionAdd BLAST14
ChainiPRO_000002679115 – 453Cytochrome b-c1 complex subunit 2, mitochondrialAdd BLAST439

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei66N6-acetyllysineBy similarity1
Modified residuei199N6-acetyllysineBy similarity1
Modified residuei250N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP22695.
MaxQBiP22695.
PaxDbiP22695.
PeptideAtlasiP22695.
PRIDEiP22695.
TopDownProteomicsiP22695.

2D gel databases

REPRODUCTION-2DPAGEiIPI00305383.
UCD-2DPAGEiP22695.

PTM databases

iPTMnetiP22695.
PhosphoSitePlusiP22695.
SwissPalmiP22695.

Expressioni

Gene expression databases

BgeeiENSG00000140740.
CleanExiHS_UQCRC2.
ExpressionAtlasiP22695. baseline and differential.
GenevisibleiP22695. HS.

Organism-specific databases

HPAiHPA007998.
HPA019146.

Interactioni

Subunit structurei

The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

Binary interactionsi

WithEntry#Exp.IntActNotes
CACNA1AO005552EBI-1051424,EBI-766279

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113231. 143 interactors.
IntActiP22695. 22 interactors.
MINTiMINT-2801885.
STRINGi9606.ENSP00000268379.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTEelectron microscopy3.40K/W35-453[»]
5XTHelectron microscopy3.90AK/AW35-453[»]
5XTIelectron microscopy17.40AK/AW35-453[»]
ProteinModelPortaliP22695.
SMRiP22695.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2583. Eukaryota.
COG0612. LUCA.
GeneTreeiENSGT00550000074666.
HOGENOMiHOG000046923.
HOVERGENiHBG055236.
InParanoidiP22695.
KOiK00415.
OMAiVECLRDD.
OrthoDBiEOG091G0A7X.
PhylomeDBiP22695.
TreeFamiTF105033.

Family and domain databases

Gene3Di3.30.830.10. 2 hits.
InterProiView protein in InterPro
IPR011249. Metalloenz_LuxS/M16.
IPR011765. Pept_M16_N.
IPR001431. Pept_M16_Zn_BS.
IPR007863. Peptidase_M16_C.
PfamiView protein in Pfam
PF00675. Peptidase_M16. 1 hit.
PF05193. Peptidase_M16_C. 1 hit.
SUPFAMiSSF63411. SSF63411. 3 hits.
PROSITEiView protein in PROSITE
PS00143. INSULINASE. 1 hit.

Sequencei

Sequence statusi: Complete.

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

P22695-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLLTRAGSF SRFYSLKVAP KVKATAAPAG APPQPQDLEF TKLPNGLVIA
60 70 80 90 100
SLENYSPVSR IGLFIKAGSR YEDFSNLGTT HLLRLTSSLT TKGASSFKIT
110 120 130 140 150
RGIEAVGGKL SVTATRENMA YTVECLRGDV DILMEFLLNV TTAPEFRRWE
160 170 180 190 200
VADLQPQLKI DKAVAFQNPQ THVIENLHAA AYRNALANPL YCPDYRIGKV
210 220 230 240 250
TSEELHYFVQ NHFTSARMAL IGLGVSHPVL KQVAEQFLNM RGGLGLSGAK
260 270 280 290 300
ANYRGGEIRE QNGDSLVHAA FVAESAVAGS AEANAFSVLQ HVLGAGPHVK
310 320 330 340 350
RGSNTTSHLH QAVAKATQQP FDVSAFNASY SDSGLFGIYT ISQATAAGDV
360 370 380 390 400
IKAAYNQVKT IAQGNLSNTD VQAAKNKLKA GYLMSVESSE CFLEEVGSQA
410 420 430 440 450
LVAGSYMPPS TVLQQIDSVA NADIINAAKK FVSGQKSMAA SGNLGHTPFV

DEL
Length:453
Mass (Da):48,443
Last modified:July 11, 2002 - v3
Checksum:iBFA655C24C07AF52
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti360T → R in AAA35710 (PubMed:2547763).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029336148R → S. Corresponds to variant dbSNP:rs2228473Ensembl.1
Natural variantiVAR_034582183R → Q1 PublicationCorresponds to variant dbSNP:rs4850Ensembl.1
Natural variantiVAR_069709183R → W in MC3DN5. 1 PublicationCorresponds to variant dbSNP:rs374661051Ensembl.1
Natural variantiVAR_036479208F → Y in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_034583254R → H. Corresponds to variant dbSNP:rs11863893Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04973 mRNA. Translation: AAA35710.1.
AK094006 mRNA. Translation: BAG52796.1.
CH471249 Genomic DNA. Translation: EAW50592.1.
BC003136 mRNA. Translation: AAH03136.1.
BC000484 mRNA. Translation: AAH00484.1.
CCDSiCCDS10601.1.
PIRiA32629.
RefSeqiNP_003357.2. NM_003366.3.
UniGeneiHs.528803.

Genome annotation databases

EnsembliENST00000268379; ENSP00000268379; ENSG00000140740.
ENST00000639558; ENSP00000491124; ENSG00000284493.
GeneIDi7385.
KEGGihsa:7385.
UCSCiuc002djx.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiQCR2_HUMAN
AccessioniPrimary (citable) accession number: P22695
Secondary accession number(s): B3KSN4, Q9BQ05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: July 11, 2002
Last modified: October 25, 2017
This is version 179 of the entry and version 3 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

Caution

Does not seem to have a protease activity as it lack the zinc-binding site.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families