Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O14949

- QCR8_HUMAN

UniProt

O14949 - QCR8_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Cytochrome b-c1 complex subunit 8

Gene

UQCRQ

Organism
Homo sapiens (Human)
Status
Reviewed - 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. This subunit, together with cytochrome b, binds to ubiquinone.

GO - Molecular functioni

  1. ubiquinol-cytochrome-c reductase activity Source: InterPro

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. cerebellar Purkinje cell layer development Source: Ensembl
  3. hippocampus development Source: Ensembl
  4. hypothalamus development Source: Ensembl
  5. midbrain development Source: Ensembl
  6. pons development Source: Ensembl
  7. pyramidal neuron development Source: Ensembl
  8. respiratory electron transport chain Source: Reactome
  9. small molecule metabolic process Source: Reactome
  10. subthalamus development Source: Ensembl
  11. thalamus development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-c1 complex subunit 8
Alternative name(s):
Complex III subunit 8
Complex III subunit VIII
Ubiquinol-cytochrome c reductase complex 9.5 kDa protein
Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C
Gene namesi
Name:UQCRQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:29594. UQCRQ.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Reactome
  2. mitochondrion Source: HPA
  3. respiratory chain Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451S → F in MC3DN4. 1 Publication
Corresponds to variant rs11544803 [ dbSNP | Ensembl ].
VAR_045911

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615159. phenotype.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA142670637.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 8281Cytochrome b-c1 complex subunit 8PRO_0000193544Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei33 – 331N6-acetyllysine; alternateBy similarity
Modified residuei33 – 331N6-succinyllysine; alternateBy similarity
Cross-linki33 – 33Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternateBy similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiO14949.
PaxDbiO14949.
PRIDEiO14949.

PTM databases

PhosphoSiteiO14949.

Expressioni

Gene expression databases

BgeeiO14949.
CleanExiHS_UQCRQ.
GenevestigatoriO14949.

Organism-specific databases

HPAiHPA046693.
HPA053323.

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).

Protein-protein interaction databases

BioGridi117991. 19 interactions.
IntActiO14949. 4 interactions.
MINTiMINT-1417930.
STRINGi9606.ENSP00000367934.

Structurei

3D structure databases

ProteinModelPortaliO14949.
SMRiO14949. Positions 2-80.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UQCRQ/QCR8 family.Curated

Phylogenomic databases

eggNOGiNOG253869.
GeneTreeiENSGT00390000004029.
HOGENOMiHOG000205681.
HOVERGENiHBG001468.
InParanoidiO14949.
KOiK00418.
OMAiNVWRRFS.
OrthoDBiEOG7K3TPV.
PhylomeDBiO14949.
TreeFamiTF300281.

Family and domain databases

Gene3Di1.20.5.210. 1 hit.
InterProiIPR004205. Cyt_bc1_su8.
[Graphical view]
PANTHERiPTHR12119. PTHR12119. 1 hit.
PfamiPF02939. UcrQ. 1 hit.
[Graphical view]
ProDomiPD331499. UcrQ. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF81508. SSF81508. 1 hit.

Sequencei

Sequence statusi: Complete.

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

O14949-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV
60 70 80
PQFVVFYLIY TWGTEEFERS KRKNPAAYEN DK
Length:82
Mass (Da):9,906
Last modified:January 23, 2007 - v4
Checksum:i5ED13ABDD2990DD2
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti73 – 8210KNPAAYENDK → RIQLPMKMTNEQRIRMTVPC L in BAA23321. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451S → F in MC3DN4. 1 Publication
Corresponds to variant rs11544803 [ dbSNP | Ensembl ].
VAR_045911

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D50369 mRNA. Translation: BAA23321.1.
BC001390 mRNA. Translation: AAH01390.1.
BC090048 mRNA. Translation: AAH90048.1.
CCDSiCCDS34237.1.
RefSeqiNP_055217.2. NM_014402.4.
UniGeneiHs.146602.

Genome annotation databases

EnsembliENST00000378665; ENSP00000367934; ENSG00000164405.
ENST00000378667; ENSP00000367936; ENSG00000164405.
ENST00000378670; ENSP00000367939; ENSG00000164405.
GeneIDi27089.
KEGGihsa:27089.
UCSCiuc003kya.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D50369 mRNA. Translation: BAA23321.1 .
BC001390 mRNA. Translation: AAH01390.1 .
BC090048 mRNA. Translation: AAH90048.1 .
CCDSi CCDS34237.1.
RefSeqi NP_055217.2. NM_014402.4.
UniGenei Hs.146602.

3D structure databases

ProteinModelPortali O14949.
SMRi O14949. Positions 2-80.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117991. 19 interactions.
IntActi O14949. 4 interactions.
MINTi MINT-1417930.
STRINGi 9606.ENSP00000367934.

PTM databases

PhosphoSitei O14949.

Proteomic databases

MaxQBi O14949.
PaxDbi O14949.
PRIDEi O14949.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378665 ; ENSP00000367934 ; ENSG00000164405 .
ENST00000378667 ; ENSP00000367936 ; ENSG00000164405 .
ENST00000378670 ; ENSP00000367939 ; ENSG00000164405 .
GeneIDi 27089.
KEGGi hsa:27089.
UCSCi uc003kya.1. human.

Organism-specific databases

CTDi 27089.
GeneCardsi GC05P132204.
HGNCi HGNC:29594. UQCRQ.
HPAi HPA046693.
HPA053323.
MIMi 612080. gene.
615159. phenotype.
neXtProti NX_O14949.
Orphaneti 1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBi PA142670637.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253869.
GeneTreei ENSGT00390000004029.
HOGENOMi HOG000205681.
HOVERGENi HBG001468.
InParanoidi O14949.
KOi K00418.
OMAi NVWRRFS.
OrthoDBi EOG7K3TPV.
PhylomeDBi O14949.
TreeFami TF300281.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi UQCRQ. human.
GenomeRNAii 27089.
NextBioi 49705.
PROi O14949.
SOURCEi Search...

Gene expression databases

Bgeei O14949.
CleanExi HS_UQCRQ.
Genevestigatori O14949.

Family and domain databases

Gene3Di 1.20.5.210. 1 hit.
InterProi IPR004205. Cyt_bc1_su8.
[Graphical view ]
PANTHERi PTHR12119. PTHR12119. 1 hit.
Pfami PF02939. UcrQ. 1 hit.
[Graphical view ]
ProDomi PD331499. UcrQ. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SUPFAMi SSF81508. SSF81508. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a human homologue of bovine low molecular mass ubiquinone-binding protein gene."
    Fujiwara T., Kawai A., Shimizu F., Shinomiya K., Hirano H., Okuno S., Ozaki K., Katagiri T., Takeda S., Kuga Y., Shimada Y., Nagata M., Takaichi A., Watanabe T., Horie M., Nakamura Y., Takahashi E., Hirai Y.
    Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. "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: Pituitary and Skin.
  3. "Ubiquinol-cytochrome-c reductase from human and bovine mitochondria."
    Schaegger H., Brandt U., Gencic S., von Jagow G.
    Methods Enzymol. 260:82-96(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-16.
    Tissue: Heart and Liver.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ."
    Barel O., Shorer Z., Flusser H., Ofir R., Narkis G., Finer G., Shalev H., Nasasra A., Saada A., Birk O.S.
    Am. J. Hum. Genet. 82:1211-1216(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MC3DN4 PHE-45.

Entry informationi

Entry nameiQCR8_HUMAN
AccessioniPrimary (citable) accession number: O14949
Secondary accession number(s): Q5FVE2, Q9BV88, Q9T2V7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 129 of the entry and version 4 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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3