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P22695 (QCR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:UQCRC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length453 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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).

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Involvement in disease

Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.

Caution

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

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CACNA1AO005552EBI-1051424,EBI-766279

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 1414Mitochondrion
Chain15 – 453439Cytochrome b-c1 complex subunit 2, mitochondrial
PRO_0000026791

Amino acid modifications

Modified residue661N6-acetyllysine By similarity
Modified residue1991N6-acetyllysine By similarity
Modified residue2501N6-acetyllysine By similarity

Natural variations

Natural variant1481R → S.
Corresponds to variant rs2228473 [ dbSNP | Ensembl ].
VAR_029336
Natural variant1831R → Q. Ref.1
Corresponds to variant rs4850 [ dbSNP | Ensembl ].
VAR_034582
Natural variant1831R → W in MC3DN5. Ref.8
VAR_069709
Natural variant2081F → Y in a colorectal cancer sample; somatic mutation. Ref.7
VAR_036479
Natural variant2541R → H.
Corresponds to variant rs11863893 [ dbSNP | Ensembl ].
VAR_034583

Experimental info

Sequence conflict3601T → R in AAA35710. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P22695 [UniParc].

Last modified July 11, 2002. Version 3.
Checksum: BFA655C24C07AF52

FASTA45348,443
        10         20         30         40         50         60 
MKLLTRAGSF SRFYSLKVAP KVKATAAPAG APPQPQDLEF TKLPNGLVIA SLENYSPVSR 

        70         80         90        100        110        120 
IGLFIKAGSR YEDFSNLGTT HLLRLTSSLT TKGASSFKIT RGIEAVGGKL SVTATRENMA 

       130        140        150        160        170        180 
YTVECLRGDV DILMEFLLNV TTAPEFRRWE VADLQPQLKI DKAVAFQNPQ THVIENLHAA 

       190        200        210        220        230        240 
AYRNALANPL YCPDYRIGKV TSEELHYFVQ NHFTSARMAL IGLGVSHPVL KQVAEQFLNM 

       250        260        270        280        290        300 
RGGLGLSGAK ANYRGGEIRE QNGDSLVHAA FVAESAVAGS AEANAFSVLQ HVLGAGPHVK 

       310        320        330        340        350        360 
RGSNTTSHLH QAVAKATQQP FDVSAFNASY SDSGLFGIYT ISQATAAGDV IKAAYNQVKT 

       370        380        390        400        410        420 
IAQGNLSNTD VQAAKNKLKA GYLMSVESSE CFLEEVGSQA LVAGSYMPPS TVLQQIDSVA 

       430        440        450 
NADIINAAKK FVSGQKSMAA SGNLGHTPFV DEL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA32629.
RefSeqNP_003357.2. NM_003366.2.
UniGeneHs.528803.

3D structure databases

ProteinModelPortalP22695.
SMRP22695. Positions 32-453.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113231. 27 interactions.
IntActP22695. 8 interactions.
MINTMINT-2801885.
STRING9606.ENSP00000268379.

Protein family/group databases

MEROPSM16.974.

PTM databases

PhosphoSiteP22695.

Polymorphism databases

DMDM21903482.

2D gel databases

REPRODUCTION-2DPAGEIPI00305383.
UCD-2DPAGEP22695.

Proteomic databases

PaxDbP22695.
PeptideAtlasP22695.
PRIDEP22695.

Protocols and materials databases

DNASU7385.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268379; ENSP00000268379; ENSG00000140740.
GeneID7385.
KEGGhsa:7385.
UCSCuc002djx.3. human.

Organism-specific databases

CTD7385.
GeneCardsGC16P021963.
HGNCHGNC:12586. UQCRC2.
HPAHPA007998.
HPA019146.
MIM191329. gene.
615160. phenotype.
neXtProtNX_P22695.
Orphanet1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBPA37217.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0612.
HOGENOMHOG000046923.
HOVERGENHBG055236.
InParanoidP22695.
KOK00415.
OMAQFVQNNF.
OrthoDBEOG79CXZF.
PhylomeDBP22695.
TreeFamTF105033.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SignaLinkP22695.

Gene expression databases

ArrayExpressP22695.
BgeeP22695.
CleanExHS_UQCRC2.
GenevestigatorP22695.

Family and domain databases

Gene3D3.30.830.10. 2 hits.
InterProIPR011249. Metalloenz_LuxS/M16.
IPR011237. Pept_M16_dom.
IPR011765. Pept_M16_N.
IPR001431. Pept_M16_Zn_BS.
IPR007863. Peptidase_M16_C.
[Graphical view]
PfamPF00675. Peptidase_M16. 1 hit.
PF05193. Peptidase_M16_C. 1 hit.
[Graphical view]
SUPFAMSSF63411. SSF63411. 3 hits.
PROSITEPS00143. INSULINASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSUQCRC2. human.
GeneWikiUQCRC2.
GenomeRNAi7385.
NextBio28916.
PROP22695.
SOURCESearch...

Entry information

Entry nameQCR2_HUMAN
AccessionPrimary (citable) accession number: P22695
Secondary accession number(s): B3KSN4, Q9BQ05
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: July 11, 2002
Last modified: April 16, 2014
This is version 143 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM