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Q8N8Q8 (COX18_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial inner membrane protein COX18

Short name=COX18Hs
Alternative name(s):
Cytochrome c oxidase assembly protein 18
Gene names
Name:COX18
Synonyms:OXA1L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length333 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of the C-terminal part of the COX2 protein into the mitochondrial intermembrane space. Ref.4

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.1.

Sequence similarities

Belongs to the OXA1/ALB3/YidC family.

Sequence caution

The sequence AAH71812.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N8Q8-1)

Also known as: Hs1;

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: Q8N8Q8-2)

Also known as: Hs2;

The sequence of this isoform differs from the canonical sequence as follows:
     112-127: VENLQPEIKTIARHLN → LGGKFAARNKNYCQAS
     128-333: Missing.
Isoform 3 (identifier: Q8N8Q8-3)

Also known as: Hs3;

The sequence of this isoform differs from the canonical sequence as follows:
     112-129: VENLQPEIKTIARHLNQE → AHLSKEYEEANFRAICAR
     130-333: Missing.
Isoform 4 (identifier: Q8N8Q8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     113-147: ENLQPEIKTIARHLNQEVAVRANQLGWSKRDARLT → VSMGKKNRKQNRNGISSNIKAVSHFTGRMSTGQEQ
     148-333: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 333Mitochondrial inner membrane protein COX18PRO_0000020354

Regions

Transmembrane168 – 18821Helical; Potential
Transmembrane224 – 24421Helical; Potential
Transmembrane263 – 28321Helical; Potential

Natural variations

Alternative sequence112 – 12918VENLQ…HLNQE → AHLSKEYEEANFRAICAR in isoform 3.
VSP_022311
Alternative sequence112 – 12716VENLQ…ARHLN → LGGKFAARNKNYCQAS in isoform 2.
VSP_022312
Alternative sequence113 – 14735ENLQP…DARLT → VSMGKKNRKQNRNGISSNIK AVSHFTGRMSTGQEQ in isoform 4.
VSP_022313
Alternative sequence128 – 333206Missing in isoform 2.
VSP_022314
Alternative sequence130 – 333204Missing in isoform 3.
VSP_022315
Alternative sequence148 – 333186Missing in isoform 4.
VSP_022316

Experimental info

Sequence conflict3111K → R in CAJ20055. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Hs1) [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 4F2C18C7E78C08EE

FASTA33337,063
        10         20         30         40         50         60 
MLCRLGGRWL RPLPALQLWA RDLPLAPVPT SGAKRPTLPV WAVAPVSAVH ANGWYEALAA 

        70         80         90        100        110        120 
SSPVRVAEEV LLGVHAATGL PWWGSILLST VALRGAVTLP LAAYQHYILA KVENLQPEIK 

       130        140        150        160        170        180 
TIARHLNQEV AVRANQLGWS KRDARLTYLK NMRRLISELY VRDNCHPFKA TVLVWIQLPM 

       190        200        210        220        230        240 
WIFMSFALRN LSTGAAHSEG FSVQEQLATG GILWFPDLTA PDSTWILPIS VGVINLLIVE 

       250        260        270        280        290        300 
ICALQKIGMS RFQTYITYFV RAMSVLMIPI AATVPSSIVL YWLCSSFVGL SQNLLLRSPG 

       310        320        330 
FRQLCRIPST KSDSETPYKD IFAAFNTKFI SRK 

« Hide

Isoform 2 (Hs2) [UniParc].

Checksum: 61DFF76DFF75C2AD
Show »

FASTA12713,573
Isoform 3 (Hs3) [UniParc].

Checksum: 46E17277116D3A94
Show »

FASTA12913,953
Isoform 4 [UniParc].

Checksum: 87C295B3F8F4F91E
Show »

FASTA14715,822

References

« Hide 'large scale' references
[1]"hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly."
Sacconi S., Trevisson E., Pistollato F., Baldoin M.C., Rezzonico R., Bourget I., Desnuelle C., Tenconi R., Basso G., DiMauro S., Salviati L.
Biochem. Biophys. Res. Commun. 337:832-839(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
[2]"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] (ISOFORM 1).
Tissue: Teratocarcinoma.
[3]"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] (ISOFORMS 1 AND 4).
Tissue: Cerebellum.
[4]"The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast."
Gaisne M., Bonnefoy N.
FEMS Yeast Res. 6:869-882(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-333 (ISOFORMS 1; 2 AND 3), FUNCTION.
Tissue: Skeletal muscle.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY957564 mRNA. Translation: AAY35060.1.
AY957565 mRNA. Translation: AAY35061.1.
AK096310 mRNA. Translation: BAC04758.1.
BC071812 mRNA. Translation: AAH71812.1. Sequence problems.
BC101684 mRNA. Translation: AAI01685.1.
AM055750 mRNA. Translation: CAJ20055.1.
AM055751 mRNA. Translation: CAJ20056.1.
AM055752 mRNA. Translation: CAJ20057.1.
RefSeqNP_776188.1. NM_173827.2.
UniGeneHs.356697.

3D structure databases

ProteinModelPortalQ8N8Q8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid130132. 1 interaction.
STRING9606.ENSP00000295890.

PTM databases

PhosphoSiteQ8N8Q8.

Polymorphism databases

DMDM38372495.

Proteomic databases

PaxDbQ8N8Q8.
PRIDEQ8N8Q8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295890; ENSP00000295890; ENSG00000163626. [Q8N8Q8-1]
ENST00000449739; ENSP00000394583; ENSG00000163626. [Q8N8Q8-3]
ENST00000510031; ENSP00000424978; ENSG00000163626. [Q8N8Q8-2]
GeneID285521.
KEGGhsa:285521.
UCSCuc003hgm.1. human. [Q8N8Q8-1]

Organism-specific databases

CTD285521.
GeneCardsGC04M073920.
HGNCHGNC:26801. COX18.
HPAHPA046772.
HPA049489.
MIM610428. gene.
neXtProtNX_Q8N8Q8.
PharmGKBPA145008543.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0706.
HOVERGENHBG081304.
InParanoidQ8N8Q8.
KOK17797.
OrthoDBEOG7S4X6H.
PhylomeDBQ8N8Q8.
TreeFamTF323948.

Gene expression databases

ArrayExpressQ8N8Q8.
BgeeQ8N8Q8.
CleanExHS_COX18.
GenevestigatorQ8N8Q8.

Family and domain databases

InterProIPR001708. Membrane_insert_OXA1/ALB3/YidC.
[Graphical view]
PANTHERPTHR12428. PTHR12428. 1 hit.
PfamPF02096. 60KD_IMP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi285521.
NextBio95575.
PROQ8N8Q8.
SOURCESearch...

Entry information

Entry nameCOX18_HUMAN
AccessionPrimary (citable) accession number: Q8N8Q8
Secondary accession number(s): Q2PB66 expand/collapse secondary AC list , Q2PB67, Q2PB68, Q49B97, Q6IPP9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 83 of the entry and version 1 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 chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM