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Protein

Cytochrome c oxidase subunit 6B1

Gene

COX6B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Connects the two COX monomers into the physiological dimeric form.By similarity

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit 6B1
Alternative name(s):
Cytochrome c oxidase subunit VIb isoform 1
Short name:
COX VIb-1
Gene namesi
Name:COX6B1
Synonyms:COX6B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000126267.8
HGNCiHGNC:2280 COX6B1
MIMi124089 gene
neXtProtiNX_P14854

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.
See also OMIM:220110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04677520R → H in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs121909602EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi1340
MalaCardsiCOX6B1
MIMi220110 phenotype
OpenTargetsiENSG00000126267
Orphaneti254905 Isolated cytochrome C oxidase deficiency
70474 Leigh syndrome with cardiomyopathy
PharmGKBiPA26797

Chemistry databases

DrugBankiDB02659 Cholic Acid
DB04464 N-Formylmethionine

Polymorphism and mutation databases

BioMutaiCOX6B1
DMDMi117115

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001949122 – 86Cytochrome c oxidase subunit 6B1Add BLAST85

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Disulfide bondi30 ↔ 65PROSITE-ProRule annotation
Disulfide bondi40 ↔ 54PROSITE-ProRule annotation

Keywords - PTMi

Acetylation, Disulfide bond

Proteomic databases

EPDiP14854
MaxQBiP14854
PaxDbiP14854
PeptideAtlasiP14854
PRIDEiP14854
ProteomicsDBi53084
TopDownProteomicsiP14854

PTM databases

iPTMnetiP14854
PhosphoSitePlusiP14854

Expressioni

Gene expression databases

BgeeiENSG00000126267 Expressed in 237 organ(s), highest expression level in apex of heart
CleanExiHS_COX6B1
ExpressionAtlasiP14854 baseline and differential
GenevisibleiP14854 HS

Organism-specific databases

HPAiHPA004192

Interactioni

Protein-protein interaction databases

BioGridi107733, 52 interactors
IntActiP14854, 26 interactors
MINTiP14854
STRINGi9606.ENSP00000246554

Structurei

3D structure databases

ProteinModelPortaliP14854
SMRiP14854
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 73CHCHPROSITE-ProRule annotationAdd BLAST47

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi30 – 40Cx9C motifPROSITE-ProRule annotationAdd BLAST11
Motifi54 – 65Cx10C motifPROSITE-ProRule annotationAdd BLAST12

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3057 Eukaryota
ENOG41121WM LUCA
GeneTreeiENSGT00390000001191
HOGENOMiHOG000165128
HOVERGENiHBG051090
InParanoidiP14854
KOiK02267
OMAiAPCKQFK
OrthoDBiEOG091G0UIB
PhylomeDBiP14854
TreeFamiTF105065

Family and domain databases

CDDicd00926 Cyt_c_Oxidase_VIb, 1 hit
Gene3Di1.10.10.140, 1 hit
InterProiView protein in InterPro
IPR003213 Cyt_c_oxidase_su6B
IPR036549 Cyt_c_oxidase_su6B_sf
PANTHERiPTHR11387 PTHR11387, 1 hit
PfamiView protein in Pfam
PF02297 COX6B, 1 hit
PIRSFiPIRSF000278 Cyt_c_oxidase_6B, 1 hit
SUPFAMiSSF47694 SSF47694, 1 hit
PROSITEiView protein in PROSITE
PS51808 CHCH, 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 1 potential isoform that is computationally mapped.iShow all

P14854-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD
60 70 80
ISVCEWYQRV YQSLCPTSWV TDWDEQRAEG TFPGKI
Length:86
Mass (Da):10,192
Last modified:January 23, 2007 - v2
Checksum:i15C8B056491FB248
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EQD3K7EQD3_HUMAN
Cytochrome c oxidase subunit 6B1
COX6B1
40Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04677520R → H in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs121909602EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X13923 mRNA Translation: CAA32114.1
X54473 mRNA Translation: CAA38352.1
AK312140 mRNA Translation: BAG35076.1
BT006945 mRNA Translation: AAP35591.1
CR456789 mRNA Translation: CAG33070.1
CR542137 mRNA Translation: CAG46934.1
AC002115 Genomic DNA Translation: AAB57628.1
BC001015 mRNA Translation: AAH01015.1
BC002478 mRNA Translation: AAH02478.1
X58139 Genomic DNA Translation: CAA41147.1
CCDSiCCDS12469.1
PIRiS03287 OGHU6B
RefSeqiNP_001854.1, NM_001863.4
UniGeneiHs.431668

Genome annotation databases

EnsembliENST00000246554; ENSP00000246554; ENSG00000126267
ENST00000392201; ENSP00000376037; ENSG00000126267
ENST00000592141; ENSP00000466818; ENSG00000126267
GeneIDi1340
KEGGihsa:1340
UCSCiuc002oav.4 human

Similar proteinsi

Entry informationi

Entry nameiCX6B1_HUMAN
AccessioniPrimary (citable) accession number: P14854
Secondary accession number(s): B2R5C9, Q6IBL4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 172 of the entry and version 2 of the sequence. See 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, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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