UniProtKB - Q9BRT2 (UQCC2_HUMAN)

BLAST

>sp|Q9BRT2|UQCC2_HUMAN Ubiquinol-cytochrome-c reductase complex assembly factor 2 OS=Homo sapiens OX=9606 GN=UQCC2 PE=1 SV=1
MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESL
ARLHSNYYKHKYPRPRDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGP
EEDHKA

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History
Entry version 124 (07 Nov 2018)
Sequence version 1 (01 Jun 2001)
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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 2

Gene

UQCC2

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -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). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.2 Publications

GO - Biological processⁱ

mitochondrial respiratory chain complex III assembly
Source: UniProtKB
Inferred from direct assayⁱ
- 24385928
positive regulation of cellular protein catabolic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 24385928
positive regulation of mitochondrial translation
Source: UniProtKB
Inferred from direct assayⁱ
- 24385928
regulation of insulin secretion Source: UniProtKB
regulation of oxidative phosphorylation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 22363741
regulation of skeletal muscle cell differentiation Source: UniProtKB

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Ubiquinol-cytochrome-c reductase complex assembly factor 2 Alternative name(s): Breast cancer-associated protein SGA-81M Mitochondrial nucleoid factor 1 Mitochondrial protein M19
Gene namesⁱ	Name:UQCC2 Synonyms:C6orf125, MNF1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000137288.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:21237 UQCC2
MIMⁱ	614461 gene
neXtProtⁱ	NX_Q9BRT2

Keywords - Cellular componentⁱ

Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoid

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Mitochondrial complex III deficiency, nuclear 7 (MC3DN7)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. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.

Keywords - Diseaseⁱ

Primary mitochondrial disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	84300
MalaCards human disease database More...MalaCardsⁱ	UQCC2
MIMⁱ	615824 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000137288
Orphanetⁱ	1460 Isolated complex III deficiency
PharmGKBⁱ	PA134970806

Polymorphism and mutation databases

DMDMⁱ	73917719

DMDMⁱ

73917719

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transit peptideⁱ	1 – 13	MitochondrionBy similarityAdd BLAST		13
ChainⁱPRO_0000089526	14 – 126	Ubiquinol-cytochrome-c reductase complex assembly factor 2Add BLAST		113

Proteomic databases

EPDⁱ	Q9BRT2
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BRT2
PaxDbⁱ	Q9BRT2
PeptideAtlas More...PeptideAtlasⁱ	Q9BRT2
PRIDEⁱ	Q9BRT2
ProteomicsDBⁱ	78827
TopDownProteomicsⁱ	Q9BRT2

PTM databases

iPTMnetⁱ	Q9BRT2
PhosphoSitePlusⁱ	Q9BRT2
SwissPalmⁱ	Q9BRT2

Expressionⁱ

Tissue specificityⁱ

Pancreas, skeletal muscle, kidney, liver and heart.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000137288 Expressed in 195 organ(s), highest expression level in apex of heart
CleanExⁱ	HS_C6orf125
ExpressionAtlasⁱ	Q9BRT2 baseline and differential
Genevisibleⁱ	Q9BRT2 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA039111

HPAⁱ

HPA039111

Interactionⁱ

Subunit structureⁱ

Protein-protein interaction databases

BioGridⁱ	124026, 29 interactors
IntActⁱ	Q9BRT2, 18 interactors
STRINGⁱ	9606.ENSP00000363348

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BRT2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Keywords - Domainⁱ

Transit peptide

Phylogenomic databases

eggNOGⁱ	ENOG410IWE9 Eukaryota ENOG4111QCC LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00510000048041
HOGENOMⁱ	HOG000007950
HOVERGENⁱ	HBG058554
InParanoidⁱ	Q9BRT2
KEGG Orthology (KO) More...KOⁱ	K17682
OMAⁱ	KCDQMYE
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G146S
PhylomeDBⁱ	Q9BRT2
TreeFamⁱ	TF333267

Family and domain databases

InterProⁱ	View protein in InterPro IPR037698 UQCC2
PANTHERⁱ	PTHR34260 PTHR34260, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

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

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show all Align All

Q9BRT2-1 [UniParc]FASTA Add to basket

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        10         20         30         40         50
MAASRYRRFL KLCEEWPVDE TKRGRDLGAY LRQRVAQAFR EGENTQVAEP 
        60         70         80         90        100
EACDQMYESL ARLHSNYYKH KYPRPRDTSF SGLSLEEYKL ILSTDTLEEL 
       110        120 
KEIDKGMWKK LQEKFAPKGP EEDHKA

Length:126

Mass (Da):14,875

Last modified:June 1, 2001 - v1

Checksum:ⁱ7B840C1AAC74D797

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

Q5TAQ0	Q5TAQ0_HUMAN	Ubiquinol-cytochrome-c reductase co... Ubiquinol-cytochrome-c reductase complex assembly factor 2	UQCC2	101	Annotation score:
V5IRT4	V5IRT4_HUMAN	Ubiquinol-cytochrome-c reductase co... Ubiquinol-cytochrome-c reductase complex assembly factor 2	UQCC2	126	Annotation score:

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY568085 mRNA Translation: AAS68365.1 AK311835 mRNA Translation: BAG34777.1 AL139044 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03745.1 BC006007 mRNA Translation: AAH06007.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4784.1
NCBI Reference Sequences More...RefSeqⁱ	NP_115716.1, NM_032340.3
UniGeneⁱ	Hs.732448 Hs.745020

Genome annotation databases

Ensemblⁱ	ENST00000607484; ENSP00000476140; ENSG00000137288
GeneIDⁱ	84300
KEGGⁱ	hsa:84300
UCSC genome browser More...UCSCⁱ	uc003ofa.3 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BRT2	Ubiquinol-cytochrome-c reductase complex assembly factor 2		BOVIN		136	UniRef90_Q9BRT2
Uncharacterized protein		PIG		136
ubiquinol-cytochrome-c reductase complex assembly factor 2-like		BALAS		136
ubiquinol-cytochrome-c reductase complex assembly factor 2		DELLE		136
ubiquinol-cytochrome-c reductase complex assembly factor 2		PHYCD		136
+19

Protein	Similar proteins		Species	Score	Length	Source
Q9BRT2	Ubiquinol-cytochrome-c reductase complex assembly factor 2		BOVIN		136	UniRef50_Q9BRT2
ubiquinol-cytochrome-c reductase complex assembly factor 2		DELLE		136
ubiquinol-cytochrome-c reductase complex assembly factor 2		Florida manatee		136
ubiquinol-cytochrome-c reductase complex assembly factor 2-like		LIPVE		136
ubiquinol-cytochrome-c reductase complex assembly factor 2		TURTR		136
+33

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY568085 mRNA Translation: AAS68365.1 AK311835 mRNA Translation: BAG34777.1 AL139044 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03745.1 BC006007 mRNA Translation: AAH06007.1
CCDSⁱ	CCDS4784.1
RefSeqⁱ	NP_115716.1, NM_032340.3
UniGeneⁱ	Hs.732448 Hs.745020

3D structure databases

ProteinModelPortalⁱ	Q9BRT2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124026, 29 interactors
IntActⁱ	Q9BRT2, 18 interactors
STRINGⁱ	9606.ENSP00000363348

PTM databases

iPTMnetⁱ	Q9BRT2
PhosphoSitePlusⁱ	Q9BRT2
SwissPalmⁱ	Q9BRT2

Polymorphism and mutation databases

DMDMⁱ	73917719

DMDMⁱ

73917719

Proteomic databases

EPDⁱ	Q9BRT2
MaxQBⁱ	Q9BRT2
PaxDbⁱ	Q9BRT2
PeptideAtlasⁱ	Q9BRT2
PRIDEⁱ	Q9BRT2
ProteomicsDBⁱ	78827
TopDownProteomicsⁱ	Q9BRT2

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000607484; ENSP00000476140; ENSG00000137288
GeneIDⁱ	84300
KEGGⁱ	hsa:84300
UCSCⁱ	uc003ofa.3 human

Organism-specific databases

CTDⁱ	84300
DisGeNETⁱ	84300
EuPathDBⁱ	HostDB:ENSG00000137288.9
GeneCardsⁱ	UQCC2
H-InvDBⁱ	HIX0005782
HGNCⁱ	HGNC:21237 UQCC2
HPAⁱ	HPA039111
MalaCardsⁱ	UQCC2
MIMⁱ	614461 gene 615824 phenotype
neXtProtⁱ	NX_Q9BRT2
OpenTargetsⁱ	ENSG00000137288
Orphanetⁱ	1460 Isolated complex III deficiency
PharmGKBⁱ	PA134970806
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IWE9 Eukaryota ENOG4111QCC LUCA
GeneTreeⁱ	ENSGT00510000048041
HOGENOMⁱ	HOG000007950
HOVERGENⁱ	HBG058554
InParanoidⁱ	Q9BRT2
KOⁱ	K17682
OMAⁱ	KCDQMYE
OrthoDBⁱ	EOG091G146S
PhylomeDBⁱ	Q9BRT2
TreeFamⁱ	TF333267

Miscellaneous databases

ChiTaRSⁱ	UQCC2 human
GenomeRNAiⁱ	84300
Protein Ontology More...PROⁱ	PR:Q9BRT2
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000137288 Expressed in 195 organ(s), highest expression level in apex of heart
CleanExⁱ	HS_C6orf125
ExpressionAtlasⁱ	Q9BRT2 baseline and differential
Genevisibleⁱ	Q9BRT2 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR037698 UQCC2
PANTHERⁱ	PTHR34260 PTHR34260, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	UQCC2_HUMAN
Accessionⁱ	Q9BRT2Primary (citable) accession number: Q9BRT2 Secondary accession number(s): B2R4I0
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
	Last sequence update:	June 1, 2001
	Last modified:	November 7, 2018
	This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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, Reference proteome

Documents

MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM

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UniProtKB - Q9BRT2 (UQCC2_HUMAN)

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Ubiquinol-cytochrome-c reductase complex assembly factor 2

UQCC2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Mitochondrion

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ