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Protein

Cytochrome c oxidase subunit 6B1

Gene

COX6B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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.

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:rs121909602Ensembl.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.
TopDownProteomicsiP14854.

PTM databases

iPTMnetiP14854.
PhosphoSitePlusiP14854.

Expressioni

Gene expression databases

BgeeiENSG00000126267.
CleanExiHS_COX6B1.
ExpressionAtlasiP14854. baseline and differential.
GenevisibleiP14854. HS.

Organism-specific databases

HPAiHPA004192.

Interactioni

Protein-protein interaction databases

BioGridi107733. 52 interactors.
IntActiP14854. 20 interactors.
MINTiMINT-3008230.
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.
InterProiView protein in InterPro
IPR003213. Cyt_c_oxidase_su6B.
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.

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04677520R → H in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs121909602Ensembl.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 27, 2017
This is version 167 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

Documents

  1. Human chromosome 19
    Human chromosome 19: 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