P14854 (CX6B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	86 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Defects in COX6B1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. 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, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. Ref.12
Sequence similarities	Belongs to the cytochrome c oxidase subunit 6B family.

Ontologies

Keywords
Cellular component	Mitochondrion
Disease	Disease mutation
PTM	Acetylation Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	respiratory electron transport chain Traceable author statement. Source: Reactome
Cellular component	mitochondrial inner membrane Traceable author statement. Source: Reactome mitochondrial intermembrane space Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	cytochrome-c oxidase activity Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 86	85	Cytochrome c oxidase subunit 6B1		PRO_0000194912
Amino acid modifications
	Modified residue	2	1	N-acetylalanine By similarity
	Disulfide bond	30 ↔ 65		By similarity
	Disulfide bond	40 ↔ 54		By similarity
Natural variations
	Natural variant	20	1	R → H in MT-C4D. Ref.12		VAR_046775

Sequences

	Sequence		Length	Mass (Da)
	P14854 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 15C8B056491FB248	FASTA	86	10,192
	10 20 30 40 50 60 MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV 70 80 YQSLCPTSWV TDWDEQRAEG TFPGKI

References

	« Hide 'large scale' referencesShow '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: 2537962] [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: 2172092] [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: 1651883] [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: 14702039] [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: 15057824] [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: 15489334] [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: 1647217] [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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]	"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: 18499082] [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.
IPI	IPI00797738.
PIR	OGHU6B. S03287.
RefSeq	NP_001854.1. NM_001863.4.
UniGene	Hs.431668.
3D structure databases
ProteinModelPortal	P14854.
SMR	P14854. Positions 8-86.
ModBase	Search...
Protein-protein interaction databases
IntAct	P14854. 1 interaction.
STRING	P14854.
PTM databases
PhosphoSite	P14854.
Polymorphism databases
DMDM	117115.
Proteomic databases
PRIDE	P14854.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000246554; ENSP00000246554; ENSG00000126267. ENST00000392201; ENSP00000376037; ENSG00000126267.
GeneID	1340.
KEGG	hsa:1340.
UCSC	uc002oav.1. human.
Organism-specific databases
CTD	1340.
GeneCards	GC19P036140.
H-InvDB	HIX0015034.
HGNC	HGNC:2280. COX6B1.
HPA	HPA004192.
MIM	124089. gene. 220110. phenotype.
neXtProt	NX_P14854.
Orphanet	254905. Isolated cytochrome C oxidase deficiency. 70474. Leigh syndrome with myopathy.
PharmGKB	PA26797.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20562.
GeneTree	ENSGT00390000001191.
HOGENOM	HBG330644.
HOVERGEN	HBG051090.
InParanoid	P14854.
OrthoDB	EOG4QNMXS.
PhylomeDB	P14854.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P14854.
Bgee	P14854.
CleanEx	HS_COX6B1.
Genevestigator	P14854.
GermOnline	ENSG00000126267. Homo sapiens.
Family and domain databases
InterPro	IPR003213. Cyt_c_oxidase_su6B. [Graphical view]
Gene3D	G3DSA:1.10.10.140. Cyt_c_oxidase_6B. 1 hit.
KO	K02267.
Pfam	PF02297. COX6B. 1 hit. [Graphical view]
PIRSF	PIRSF000278. Cyt_c_oxidase_6B. 1 hit.
SUPFAM	SSF47694. Cyt_c_oxidase_6B. 1 hit.
ProtoNet	Search...
Other
NextBio	5443.
SOURCE	Search...

Entry information

Entry name

CX6B1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.