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P14854 (CX6B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome c oxidase subunit 6B1
Alternative name(s):
Cytochrome c oxidase subunit VIb isoform 1
Short name=COX VIb-1
Gene names
Name:COX6B1
Synonyms:COX6B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length86 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Mitochondrion intermembrane space By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Sequence similarities

Belongs to the cytochrome c oxidase subunit 6B family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.12
Chain2 – 8685Cytochrome c oxidase subunit 6B1
PRO_0000194912

Amino acid modifications

Modified residue21N-acetylalanine Ref.12
Disulfide bond30 ↔ 65 By similarity
Disulfide bond40 ↔ 54 By similarity

Natural variations

Natural variant201R → H in MT-C4D. Ref.13
VAR_046775

Sequences

Sequence LengthMass (Da)Tools
P14854 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 15C8B056491FB248

FASTA8610,192
        10         20         30         40         50         60 
MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV 

        70         80 
YQSLCPTSWV TDWDEQRAEG TFPGKI 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIROGHU6B. S03287.
RefSeqNP_001854.1. NM_001863.4.
UniGeneHs.431668.

3D structure databases

ProteinModelPortalP14854.
SMRP14854. Positions 8-86.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107733. 5 interactions.
IntActP14854. 4 interactions.
MINTMINT-3008230.
STRING9606.ENSP00000246554.

PTM databases

PhosphoSiteP14854.

Polymorphism databases

DMDM117115.

Proteomic databases

PaxDbP14854.
PRIDEP14854.

Protocols and materials databases

DNASU1340.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000246554; ENSP00000246554; ENSG00000126267.
ENST00000392201; ENSP00000376037; ENSG00000126267.
ENST00000592141; ENSP00000466818; ENSG00000126267.
GeneID1340.
KEGGhsa:1340.
UCSCuc002oav.3. human.

Organism-specific databases

CTD1340.
GeneCardsGC19P036140.
HGNCHGNC:2280. COX6B1.
HPAHPA004192.
MIM124089. gene.
220110. phenotype.
neXtProtNX_P14854.
Orphanet254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBPA26797.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG279294.
HOGENOMHOG000165128.
HOVERGENHBG051090.
InParanoidP14854.
KOK02267.
OMAFKFVTGG.
OrthoDBEOG7WDN54.
PhylomeDBP14854.
TreeFamTF105065.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressP14854.
BgeeP14854.
CleanExHS_COX6B1.
GenevestigatorP14854.

Family and domain databases

Gene3D1.10.10.140. 1 hit.
InterProIPR003213. Cyt_c_oxidase_su6B.
[Graphical view]
PfamPF02297. COX6B. 1 hit.
[Graphical view]
PIRSFPIRSF000278. Cyt_c_oxidase_6B. 1 hit.
SUPFAMSSF47694. SSF47694. 1 hit.
ProtoNetSearch...

Other

ChiTaRSCOX6B1. human.
GeneWikiCOX6B1.
GenomeRNAi1340.
NextBio5443.
PROP14854.
SOURCESearch...

Entry information

Entry nameCX6B1_HUMAN
AccessionPrimary (citable) accession number: P14854
Secondary accession number(s): B2R5C9, Q6IBL4
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM