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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

  1. metal ion binding Source: InterPro
  2. metalloendopeptidase activity Source: InterPro

GO - Biological processi

  1. aerobic respiration Source: ProtInc
  2. cellular metabolic process Source: Reactome
  3. oxidative phosphorylation Source: ProtInc
  4. respiratory electron transport chain Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. 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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:12586. UQCRC2.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrial respiratory chain complex III Source: Ensembl
  4. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 51 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831R → W in MC3DN5. 1 Publication
VAR_069709

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1414MitochondrionAdd
BLAST
Chaini15 – 453439Cytochrome b-c1 complex subunit 2, mitochondrialPRO_0000026791Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei66 – 661N6-acetyllysineBy similarity
Modified residuei199 – 1991N6-acetyllysineBy similarity
Modified residuei250 – 2501N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP22695.
PaxDbiP22695.
PeptideAtlasiP22695.
PRIDEiP22695.

2D gel databases

REPRODUCTION-2DPAGEIPI00305383.
UCD-2DPAGEP22695.

PTM databases

PhosphoSiteiP22695.

Expressioni

Gene expression databases

BgeeiP22695.
CleanExiHS_UQCRC2.
ExpressionAtlasiP22695. baseline and differential.
GenevestigatoriP22695.

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

Protein-protein interaction databases

BioGridi113231. 33 interactions.
IntActiP22695. 9 interactions.
MINTiMINT-2801885.
STRINGi9606.ENSP00000268379.

Structurei

3D structure databases

ProteinModelPortaliP22695.
SMRiP22695. Positions 32-453.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0612.
GeneTreeiENSGT00550000074666.
HOGENOMiHOG000046923.
HOVERGENiHBG055236.
InParanoidiP22695.
KOiK00415.
OMAiMKGIRGI.
OrthoDBiEOG79CXZF.
PhylomeDBiP22695.
TreeFamiTF105033.

Family and domain databases

Gene3Di3.30.830.10. 2 hits.
InterProiIPR011249. Metalloenz_LuxS/M16.
IPR011237. Pept_M16_dom.
IPR011765. Pept_M16_N.
IPR001431. Pept_M16_Zn_BS.
IPR007863. Peptidase_M16_C.
[Graphical view]
PfamiPF00675. Peptidase_M16. 1 hit.
PF05193. Peptidase_M16_C. 1 hit.
[Graphical view]
SUPFAMiSSF63411. SSF63411. 3 hits.
PROSITEiPS00143. INSULINASE. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti360 – 3601T → R in AAA35710. (PubMed:2547763)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481R → S.
Corresponds to variant rs2228473 [ dbSNP | Ensembl ].
VAR_029336
Natural varianti183 – 1831R → Q.1 Publication
Corresponds to variant rs4850 [ dbSNP | Ensembl ].
VAR_034582
Natural varianti183 – 1831R → W in MC3DN5. 1 Publication
VAR_069709
Natural varianti208 – 2081F → Y in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036479
Natural varianti254 – 2541R → H.
Corresponds to variant rs11863893 [ dbSNP | Ensembl ].
VAR_034583

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_003366.2.
UniGeneiHs.528803.

Genome annotation databases

EnsembliENST00000268379; ENSP00000268379; ENSG00000140740.
GeneIDi7385.
KEGGihsa:7385.
UCSCiuc002djx.3. human.

Polymorphism databases

DMDMi21903482.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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_003366.2.
UniGeneiHs.528803.

3D structure databases

ProteinModelPortaliP22695.
SMRiP22695. Positions 32-453.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113231. 33 interactions.
IntActiP22695. 9 interactions.
MINTiMINT-2801885.
STRINGi9606.ENSP00000268379.

Protein family/group databases

MEROPSiM16.974.

PTM databases

PhosphoSiteiP22695.

Polymorphism databases

DMDMi21903482.

2D gel databases

REPRODUCTION-2DPAGEIPI00305383.
UCD-2DPAGEP22695.

Proteomic databases

MaxQBiP22695.
PaxDbiP22695.
PeptideAtlasiP22695.
PRIDEiP22695.

Protocols and materials databases

DNASUi7385.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268379; ENSP00000268379; ENSG00000140740.
GeneIDi7385.
KEGGihsa:7385.
UCSCiuc002djx.3. human.

Organism-specific databases

CTDi7385.
GeneCardsiGC16P021963.
HGNCiHGNC:12586. UQCRC2.
HPAiHPA007998.
HPA019146.
MIMi191329. gene.
615160. phenotype.
neXtProtiNX_P22695.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA37217.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0612.
GeneTreeiENSGT00550000074666.
HOGENOMiHOG000046923.
HOVERGENiHBG055236.
InParanoidiP22695.
KOiK00415.
OMAiMKGIRGI.
OrthoDBiEOG79CXZF.
PhylomeDBiP22695.
TreeFamiTF105033.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
SignaLinkiP22695.

Miscellaneous databases

ChiTaRSiUQCRC2. human.
GeneWikiiUQCRC2.
GenomeRNAii7385.
NextBioi28916.
PROiP22695.
SOURCEiSearch...

Gene expression databases

BgeeiP22695.
CleanExiHS_UQCRC2.
ExpressionAtlasiP22695. baseline and differential.
GenevestigatoriP22695.

Family and domain databases

Gene3Di3.30.830.10. 2 hits.
InterProiIPR011249. Metalloenz_LuxS/M16.
IPR011237. Pept_M16_dom.
IPR011765. Pept_M16_N.
IPR001431. Pept_M16_Zn_BS.
IPR007863. Peptidase_M16_C.
[Graphical view]
PfamiPF00675. Peptidase_M16. 1 hit.
PF05193. Peptidase_M16_C. 1 hit.
[Graphical view]
SUPFAMiSSF63411. SSF63411. 3 hits.
PROSITEiPS00143. INSULINASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart."
    Hosokawa Y., Suzuki H., Toda H., Nishikimi M., Ozawa T.
    J. Biol. Chem. 264:13483-13488(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-183.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung and Skin.
  5. Lubec G., Vishwanath V.
    Submitted (MAR-2007) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 43-60; 71-84 AND 200-217, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain and Cajal-Retzius cell.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] TYR-208.
  8. "Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation."
    Miyake N., Yano S., Sakai C., Hatakeyama H., Matsushima Y., Shiina M., Watanabe Y., Bartley J., Abdenur J.E., Wang R.Y., Chang R., Tsurusaki Y., Doi H., Nakashima M., Saitsu H., Ogata K., Goto Y., Matsumoto N.
    Hum. Mutat. 34:446-452(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MC3DN5 TRP-183.

Entry informationi

Entry nameiQCR2_HUMAN
AccessioniPrimary (citable) accession number: P22695
Secondary accession number(s): B3KSN4, Q9BQ05
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: July 11, 2002
Last modified: January 7, 2015
This is version 150 of the entry and version 3 of the sequence. [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

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. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.