Q5JTJ3 (COA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cytochrome c oxidase assembly factor 6 homolog

Gene names

Name:	COA6
Synonyms:	C1orf31

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	125 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with COA1. Ref.4
Subcellular location	Mitochondrion By similarity.
Sequence similarities	Belongs to the cytochrome c oxidase subunit 6B family.
Sequence caution	The sequence AAH25793.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAH25793.1 differs from that shown. Reason: Contaminating sequence.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	cytochrome-c oxidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5JTJ3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q5JTJ3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MGPGGPLLSP...GPHTPVSTAL → MVARKGQKSP...KEAGRGRAES

Note: Gene prediction based on EST data.

Isoform 3 (identifier: Q5JTJ3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.

Note: Gene prediction based on EST data.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 125	125	Cytochrome c oxidase assembly factor 6 homolog		PRO_0000280399
Amino acid modifications
	Disulfide bond	58 ↔ 90		By similarity
	Disulfide bond	68 ↔ 79		By similarity
Natural variations
	Alternative sequence	1 – 46	46	Missing in isoform 3.		VSP_023655
	Alternative sequence	1 – 40	40	MGPGG…VSTAL → MVARKGQKSPRFRRVSCFLR LGRSTLLELEPAGRPCSGRT RHRALHRRLVACVTVSSRRH RKEAGRGRAES in isoform 2.		VSP_023656

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 15, 2005. Version 1. Checksum: 69192034A460F462	FASTA	125	14,116
	10 20 30 40 50 60 MGPGGPLLSP SRGFLLCKTG WHSNRLLGDC GPHTPVSTAL SFIAVGMAAP SMKERQVCWG 70 80 90 100 110 120 ARDEYWKCLD ENLEDASQCK KLRSSFESSC PQQWIKYFDK RRDYLKFKEK FEAGQFEPSE TTAKS
	Isoform 2 [UniParc]. Checksum: 9D5D3FA9B17E51E7	FASTA	156	18,094
	10 20 30 40 50 60 MVARKGQKSP RFRRVSCFLR LGRSTLLELE PAGRPCSGRT RHRALHRRLV ACVTVSSRRH 70 80 90 100 110 120 RKEAGRGRAE SSFIAVGMAA PSMKERQVCW GARDEYWKCL DENLEDASQC KKLRSSFESS 130 140 150 CPQQWIKYFD KRRDYLKFKE KFEAGQFEPS ETTAKS
	Isoform 3 [UniParc]. Checksum: E743974EE94DA3FE	FASTA	79	9,428
	10 20 30 40 50 60 MAAPSMKERQ VCWGARDEYW KCLDENLEDA SQCKKLRSSF ESSCPQQWIK YFDKRRDYLK 70 FKEKFEAGQF EPSETTAKS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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] (ISOFORM 1). Tissue: Ovary and Testis.
[3]	"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].
[4]	"Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase." Szklarczyk R., Wanschers B.F., Cuypers T.D., Esseling J.J., Riemersma M., van den Brand M.A., Gloerich J., Lasonder E., van den Heuvel L.P., Nijtmans L.G., Huynen M.A. Genome Biol. 13:RESEARCH0012.1-RESEARCH0012.14(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH COA1.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL355472 Genomic DNA. Translation: CAI22928.1. AL355472 Genomic DNA. Translation: CAI22929.1. AL355472 Genomic DNA. Translation: CAI22930.1. BC025793 mRNA. Translation: AAH25793.1. Sequence problems. BC116455 mRNA. Translation: AAI16456.1.
IPI	IPI00045660. IPI00646750. IPI00830136.
RefSeq	NP_001013003.1. NM_001012985.2. NP_001193570.1. NM_001206641.1.
UniGene	Hs.23198.
3D structure databases
ProteinModelPortal	Q5JTJ3.
SMR	Q5JTJ3. Positions 39-111.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5JTJ3. 2 interactions.
STRING	9606.ENSP00000355572.
PTM databases
PhosphoSite	Q5JTJ3.
Polymorphism databases
DMDM	74742178.
Proteomic databases
PaxDb	Q5JTJ3.
PRIDE	Q5JTJ3.
Protocols and materials databases
DNASU	388753.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366612; ENSP00000355571; ENSG00000168275. ENST00000366613; ENSP00000355572; ENSG00000168275. ENST00000366615; ENSP00000355574; ENSG00000168275.
GeneID	388753.
KEGG	hsa:388753.
UCSC	uc001hwb.3. human.
Organism-specific databases
CTD	388753.
GeneCards	GC01P234509.
HGNC	HGNC:18025. COA6.
HPA	HPA028588.
MIM	614772. gene.
neXtProt	NX_Q5JTJ3.
PharmGKB	PA25617.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG80742.
HOGENOM	HOG000196422.
HOVERGEN	HBG056284.
OMA	RDEYWRC.
Gene expression databases
Bgee	Q5JTJ3.
CleanEx	HS_C1orf31.
Genevestigator	Q5JTJ3.
Family and domain databases
Gene3D	1.10.10.140. 1 hit.
InterPro	IPR003213. Cyt_c_oxidase_su6B. [Graphical view]
Pfam	PF02297. COX6B. 1 hit. [Graphical view]
SUPFAM	SSF47694. Cyt_c_oxidase_6B. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	388753.
NextBio	102341.
SOURCE	Search...

Entry information

Entry name

COA6_HUMAN

Accession

Primary (citable) accession number: Q5JTJ3
Secondary accession number(s): Q5JTJ2, Q5JTJ4, Q8TA88

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	February 15, 2005
Last modified:	April 3, 2013
This is version 68 of the entry and version 1 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.