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P14854

- CX6B1_HUMAN

UniProt

P14854 - CX6B1_HUMAN

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Protein

Cytochrome c oxidase subunit 6B1

Gene

COX6B1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cytochrome-c oxidase activity Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. hydrogen ion transmembrane transport Source: GOC
  3. respiratory electron transport chain Source: Reactome
  4. small molecule metabolic process Source: Reactome
  5. substantia nigra development Source: UniProt
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_267716. Orphan transporters.

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: Chromosome 19

Organism-specific databases

HGNCiHGNC:2280. COX6B1.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Reactome
  2. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.

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.
GenevestigatoriP14854.

Organism-specific databases

HPAiHPA004192.

Interactioni

Protein-protein interaction databases

BioGridi107733. 8 interactions.
IntActiP14854. 4 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.
OMAiISRIREW.
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.

Polymorphism databases

DMDMi117115.

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 .
CCDSi CCDS12469.1.
PIRi S03287. OGHU6B.
RefSeqi NP_001854.1. NM_001863.4.
UniGenei Hs.431668.

3D structure databases

ProteinModelPortali P14854.
SMRi P14854. Positions 8-86.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107733. 8 interactions.
IntActi P14854. 4 interactions.
MINTi MINT-3008230.
STRINGi 9606.ENSP00000246554.

PTM databases

PhosphoSitei P14854.

Polymorphism databases

DMDMi 117115.

Proteomic databases

MaxQBi P14854.
PaxDbi P14854.
PRIDEi P14854.

Protocols and materials databases

DNASUi 1340.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000246554 ; ENSP00000246554 ; ENSG00000126267 .
ENST00000392201 ; ENSP00000376037 ; ENSG00000126267 .
ENST00000592141 ; ENSP00000466818 ; ENSG00000126267 .
GeneIDi 1340.
KEGGi hsa:1340.
UCSCi uc002oav.3. human.

Organism-specific databases

CTDi 1340.
GeneCardsi GC19P036140.
HGNCi HGNC:2280. COX6B1.
HPAi HPA004192.
MIMi 124089. gene.
220110. phenotype.
neXtProti NX_P14854.
Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBi PA26797.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG279294.
GeneTreei ENSGT00390000001191.
HOGENOMi HOG000165128.
HOVERGENi HBG051090.
InParanoidi P14854.
KOi K02267.
OMAi ISRIREW.
OrthoDBi EOG7WDN54.
PhylomeDBi P14854.
TreeFami TF105065.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.
REACT_267716. Orphan transporters.

Miscellaneous databases

ChiTaRSi COX6B1. human.
GeneWikii COX6B1.
GenomeRNAii 1340.
NextBioi 5443.
PROi P14854.
SOURCEi Search...

Gene expression databases

Bgeei P14854.
CleanExi HS_COX6B1.
Genevestigatori P14854.

Family and domain databases

Gene3Di 1.10.10.140. 1 hit.
InterProi IPR003213. Cyt_c_oxidase_su6B.
[Graphical view ]
Pfami PF02297. COX6B. 1 hit.
[Graphical view ]
PIRSFi PIRSF000278. Cyt_c_oxidase_6B. 1 hit.
SUPFAMi SSF47694. SSF47694. 1 hit.
ProtoNeti Search...

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. "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: November 26, 2014
This is version 141 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