Skip Header

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

Cytochrome c oxidase subunit 6B1

Gene

COX6B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_355377. TP53 Regulates Metabolic Genes.

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
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:2280. COX6B1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201R → H in MT-C4D. 1 Publication
VAR_046775

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi220110. phenotype.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA26797.

Chemistry

DrugBankiDB02659. Cholic Acid.

Polymorphism and mutation databases

BioMutaiCOX6B1.
DMDMi117115.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 8685Cytochrome c oxidase subunit 6B1PRO_0000194912Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Disulfide bondi30 ↔ 65By similarity
Disulfide bondi40 ↔ 54By similarity

Keywords - PTMi

Acetylation, Disulfide bond

Proteomic databases

MaxQBiP14854.
PaxDbiP14854.
PRIDEiP14854.

PTM databases

PhosphoSiteiP14854.

Expressioni

Gene expression databases

BgeeiP14854.
CleanExiHS_COX6B1.
ExpressionAtlasiP14854. baseline and differential.
GenevisibleiP14854. HS.

Organism-specific databases

HPAiHPA004192.

Interactioni

Protein-protein interaction databases

BioGridi107733. 7 interactions.
IntActiP14854. 5 interactions.
MINTiMINT-3008230.
STRINGi9606.ENSP00000246554.

Structurei

3D structure databases

ProteinModelPortaliP14854.
SMRiP14854. Positions 8-86.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG279294.
GeneTreeiENSGT00390000001191.
HOGENOMiHOG000165128.
HOVERGENiHBG051090.
InParanoidiP14854.
KOiK02267.
OMAiLDFHRCQ.
OrthoDBiEOG7WDN54.
PhylomeDBiP14854.
TreeFamiTF105065.

Family and domain databases

Gene3Di1.10.10.140. 1 hit.
InterProiIPR003213. Cyt_c_oxidase_su6B.
[Graphical view]
PfamiPF02297. COX6B. 1 hit.
[Graphical view]
PIRSFiPIRSF000278. Cyt_c_oxidase_6B. 1 hit.
SUPFAMiSSF47694. SSF47694. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201R → H in MT-C4D. 1 Publication
VAR_046775

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.3. human.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP14854.
SMRiP14854. Positions 8-86.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107733. 7 interactions.
IntActiP14854. 5 interactions.
MINTiMINT-3008230.
STRINGi9606.ENSP00000246554.

Chemistry

DrugBankiDB02659. Cholic Acid.

PTM databases

PhosphoSiteiP14854.

Polymorphism and mutation databases

BioMutaiCOX6B1.
DMDMi117115.

Proteomic databases

MaxQBiP14854.
PaxDbiP14854.
PRIDEiP14854.

Protocols and materials databases

DNASUi1340.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000246554; ENSP00000246554; ENSG00000126267.
ENST00000392201; ENSP00000376037; ENSG00000126267.
ENST00000592141; ENSP00000466818; ENSG00000126267.
GeneIDi1340.
KEGGihsa:1340.
UCSCiuc002oav.3. human.

Organism-specific databases

CTDi1340.
GeneCardsiGC19P036140.
HGNCiHGNC:2280. COX6B1.
HPAiHPA004192.
MIMi124089. gene.
220110. phenotype.
neXtProtiNX_P14854.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA26797.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG279294.
GeneTreeiENSGT00390000001191.
HOGENOMiHOG000165128.
HOVERGENiHBG051090.
InParanoidiP14854.
KOiK02267.
OMAiLDFHRCQ.
OrthoDBiEOG7WDN54.
PhylomeDBiP14854.
TreeFamiTF105065.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_355377. TP53 Regulates Metabolic Genes.

Miscellaneous databases

ChiTaRSiCOX6B1. human.
GeneWikiiCOX6B1.
GenomeRNAii1340.
NextBioi5443.
PROiP14854.
SOURCEiSearch...

Gene expression databases

BgeeiP14854.
CleanExiHS_COX6B1.
ExpressionAtlasiP14854. baseline and differential.
GenevisibleiP14854. HS.

Family and domain databases

Gene3Di1.10.10.140. 1 hit.
InterProiIPR003213. Cyt_c_oxidase_su6B.
[Graphical view]
PfamiPF02297. COX6B. 1 hit.
[Graphical view]
PIRSFiPIRSF000278. Cyt_c_oxidase_6B. 1 hit.
SUPFAMiSSF47694. SSF47694. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase."
    Taanman J.-W., Schrage C., Ponne N.J., Bolhuis P.A., de Vries H., Agsteribbe E.
    Nucleic Acids Res. 17:1766-1766(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skeletal muscle.
  2. "Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues."
    Taanman J.-W., Schrage C., Ponne N.J., Das A.T., Bolhuis P.A., de Vries H., Agsteribbe E.
    Gene 93:285-291(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family."
    Carrero-Valenzuela R.D., Quan F., Lightowlers R.N., Kennaway N.G., Litt M., Forte M.A.
    Gene 102:229-236(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cerebellum.
  5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  8. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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: Eye and Kidney.
  10. "Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions."
    Taanman J.-W., Schrage C., Bokma E., Reuvekamp P., Agsteribbe E., de Vries H.
    Biochim. Biophys. Acta 1089:283-285(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-86.
    Tissue: Lymphocyte.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  14. "Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase."
    Massa V., Fernandez-Vizarra E., Alshahwan S., Bakhsh E., Goffrini P., Ferrero I., Mereghetti P., D'Adamo P., Gasparini P., Zeviani M.
    Am. J. Hum. Genet. 82:1281-1289(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MT-C4D HIS-20.

Entry informationi

Entry nameiCX6B1_HUMAN
AccessioniPrimary (citable) accession number: P14854
Secondary accession number(s): B2R5C9, Q6IBL4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 23, 2007
Last modified: July 22, 2015
This is version 148 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

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

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.