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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 3

Gene

UQCC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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). May be involved in cytochrome b stabilization and/or assembly.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinol-cytochrome-c reductase complex assembly factor 3Imported
Alternative name(s):
Assembly factor CBP4 homolog1 Publication
Gene namesi
Name:UQCC3Imported
Synonyms:C11orf83Imported
ORF Names:UNQ655/PRO1286
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:34399. UQCC3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Mitochondrial matrix1 PublicationSequence Analysis
Transmembranei8 – 2821HelicalSequence AnalysisAdd
BLAST
Topological domaini29 – 9365Mitochondrial intermembrane1 PublicationSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 9 (MC3DN9)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. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development.

See also OMIM:616111
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201V → E in MC3DN9; reduces complex III activity. 1 Publication
VAR_071864

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616111. phenotype.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA162377760.

Polymorphism and mutation databases

BioMutaiC11orf83.
DMDMi296434449.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini24 – 9370Ubiquinol-cytochrome-c reductase complex assembly factor 3PRO_0000022611Add
BLAST

Proteomic databases

MaxQBiQ6UW78.
PaxDbiQ6UW78.
PRIDEiQ6UW78.

PTM databases

PhosphoSiteiQ6UW78.

Expressioni

Gene expression databases

BgeeiQ6UW78.
CleanExiHS_C11orf83.
GenevisibleiQ6UW78. HS.

Organism-specific databases

HPAiHPA046851.

Interactioni

Protein-protein interaction databases

BioGridi612915. 6 interactions.
STRINGi9606.ENSP00000367189.

Structurei

3D structure databases

ProteinModelPortaliQ6UW78.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UQCC3 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG82939.
GeneTreeiENSGT00390000001930.
HOGENOMiHOG000111740.
InParanoidiQ6UW78.
OMAiQAMLKEM.
OrthoDBiEOG7992TW.
PhylomeDBiQ6UW78.
TreeFamiTF339744.

Family and domain databases

InterProiIPR027896. DUF4574.
[Graphical view]
PfamiPF15141. DUF4574. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6UW78-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDSLRKMLIS VAMLGAGAGV GYALLVIVTP GERRKQEMLK EMPLQDPRSR
60 70 80 90
EEAARTQQLL LATLQEAATT QENVAWRKNW MVGGEGGAGG RSP
Length:93
Mass (Da):10,081
Last modified:May 18, 2010 - v2
Checksum:i7E65D81280196F93
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti89 – 891G → S in AAQ89294 (PubMed:12975309).Curated
Sequence conflicti89 – 891G → S in AAH90057 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201V → E in MC3DN9; reduces complex III activity. 1 Publication
VAR_071864

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358935 mRNA. Translation: AAQ89294.1.
AP001458 Genomic DNA. No translation available.
BC090057 mRNA. Translation: AAH90057.1.
CCDSiCCDS41658.1.
RefSeqiNP_001078841.1. NM_001085372.2.
UniGeneiHs.569009.

Genome annotation databases

EnsembliENST00000377953; ENSP00000367189; ENSG00000204922.
ENST00000531323; ENSP00000432692; ENSG00000204922.
GeneIDi790955.
KEGGihsa:790955.
UCSCiuc001nui.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358935 mRNA. Translation: AAQ89294.1.
AP001458 Genomic DNA. No translation available.
BC090057 mRNA. Translation: AAH90057.1.
CCDSiCCDS41658.1.
RefSeqiNP_001078841.1. NM_001085372.2.
UniGeneiHs.569009.

3D structure databases

ProteinModelPortaliQ6UW78.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi612915. 6 interactions.
STRINGi9606.ENSP00000367189.

PTM databases

PhosphoSiteiQ6UW78.

Polymorphism and mutation databases

BioMutaiC11orf83.
DMDMi296434449.

Proteomic databases

MaxQBiQ6UW78.
PaxDbiQ6UW78.
PRIDEiQ6UW78.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377953; ENSP00000367189; ENSG00000204922.
ENST00000531323; ENSP00000432692; ENSG00000204922.
GeneIDi790955.
KEGGihsa:790955.
UCSCiuc001nui.4. human.

Organism-specific databases

CTDi790955.
GeneCardsiGC11P062443.
H-InvDBHIX0035944.
HGNCiHGNC:34399. UQCC3.
HPAiHPA046851.
MIMi616097. gene.
616111. phenotype.
neXtProtiNX_Q6UW78.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA162377760.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG82939.
GeneTreeiENSGT00390000001930.
HOGENOMiHOG000111740.
InParanoidiQ6UW78.
OMAiQAMLKEM.
OrthoDBiEOG7992TW.
PhylomeDBiQ6UW78.
TreeFamiTF339744.

Miscellaneous databases

ChiTaRSiC11orf83. human.
GenomeRNAii790955.
NextBioi135718.
PROiQ6UW78.
SOURCEiSearch...

Gene expression databases

BgeeiQ6UW78.
CleanExiHS_C11orf83.
GenevisibleiQ6UW78. HS.

Family and domain databases

InterProiIPR027896. DUF4574.
[Graphical view]
PfamiPF15141. DUF4574. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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: Placenta.
  4. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 24-37, PROBABLE SUBCELLULAR LOCATION.
  5. Cited for: INVOLVEMENT IN MC3DN9, SUBCELLULAR LOCATION, VARIANT MC3DN9 GLU-20.

Entry informationi

Entry nameiUQCC3_HUMAN
AccessioniPrimary (citable) accession number: Q6UW78
Secondary accession number(s): Q5FVD5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: May 18, 2010
Last modified: July 22, 2015
This is version 84 of the entry and version 2 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

Was initially reported to be secreted (PubMed:15340161). However, it was later shown to be localized in the inner mitochondrial membrane (PubMed:25008109).2 Publications

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

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.