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Q8N8Q8

- COX18_HUMAN

UniProt

Q8N8Q8 - COX18_HUMAN

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Protein

Mitochondrial inner membrane protein COX18

Gene

COX18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

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.1 Publication

GO - Molecular functioni

  1. protein transporter activity Source: UniProtKB

GO - Biological processi

  1. protein insertion into mitochondrial membrane Source: UniProtKB
  2. protein transport Source: GOC
  3. respiratory chain complex IV assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial inner membrane protein COX18
Short name:
COX18Hs
Alternative name(s):
Cytochrome c oxidase assembly protein 18
Gene namesi
Name:COX18
Synonyms:OXA1L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:26801. COX18.

Subcellular locationi

Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. integral component of mitochondrial inner membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145008543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 333Mitochondrial inner membrane protein COX18PRO_0000020354
Transit peptidei1 – ?MitochondrionSequence Analysis

Proteomic databases

MaxQBiQ8N8Q8.
PaxDbiQ8N8Q8.
PRIDEiQ8N8Q8.

PTM databases

PhosphoSiteiQ8N8Q8.

Expressioni

Gene expression databases

BgeeiQ8N8Q8.
CleanExiHS_COX18.
ExpressionAtlasiQ8N8Q8. baseline and differential.
GenevestigatoriQ8N8Q8.

Organism-specific databases

HPAiHPA046772.
HPA049489.

Interactioni

Protein-protein interaction databases

BioGridi130132. 1 interaction.
STRINGi9606.ENSP00000295890.

Structurei

3D structure databases

ProteinModelPortaliQ8N8Q8.
SMRiQ8N8Q8. Positions 85-283.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei168 – 18821HelicalSequence AnalysisAdd
BLAST
Transmembranei224 – 24421HelicalSequence AnalysisAdd
BLAST
Transmembranei263 – 28321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the OXA1/ALB3/YidC family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0706.
GeneTreeiENSGT00530000063506.
HOVERGENiHBG081304.
InParanoidiQ8N8Q8.
KOiK17797.
OrthoDBiEOG7S4X6H.
PhylomeDBiQ8N8Q8.
TreeFamiTF323948.

Family and domain databases

InterProiIPR001708. Membrane_insert_OXA1/ALB3/YidC.
[Graphical view]
PANTHERiPTHR12428. PTHR12428. 1 hit.
PfamiPF02096. 60KD_IMP. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N8Q8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MLCRLGGRWL RPLPALQLWA RDLPLAPVPT SGAKRPTLPV WAVAPVSAVH
60 70 80 90 100
ANGWYEALAA SSPVRVAEEV LLGVHAATGL PWWGSILLST VALRGAVTLP
110 120 130 140 150
LAAYQHYILA KVENLQPEIK TIARHLNQEV AVRANQLGWS KRDARLTYLK
160 170 180 190 200
NMRRLISELY VRDNCHPFKA TVLVWIQLPM WIFMSFALRN LSTGAAHSEG
210 220 230 240 250
FSVQEQLATG GILWFPDLTA PDSTWILPIS VGVINLLIVE ICALQKIGMS
260 270 280 290 300
RFQTYITYFV RAMSVLMIPI AATVPSSIVL YWLCSSFVGL SQNLLLRSPG
310 320 330
FRQLCRIPST KSDSETPYKD IFAAFNTKFI SRK
Length:333
Mass (Da):37,063
Last modified:October 1, 2002 - v1
Checksum:i4F2C18C7E78C08EE
GO
Isoform 2 (identifier: Q8N8Q8-2) [UniParc]FASTAAdd to Basket

Also known as: Hs2

The sequence of this isoform differs from the canonical sequence as follows:
     112-127: VENLQPEIKTIARHLN → LGGKFAARNKNYCQAS
     128-333: Missing.

Show »
Length:127
Mass (Da):13,573
Checksum:i61DFF76DFF75C2AD
GO
Isoform 3 (identifier: Q8N8Q8-3) [UniParc]FASTAAdd to Basket

Also known as: Hs3

The sequence of this isoform differs from the canonical sequence as follows:
     112-129: VENLQPEIKTIARHLNQE → AHLSKEYEEANFRAICAR
     130-333: Missing.

Show »
Length:129
Mass (Da):13,953
Checksum:i46E17277116D3A94
GO
Isoform 4 (identifier: Q8N8Q8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-147: ENLQPEIKTIARHLNQEVAVRANQLGWSKRDARLT → VSMGKKNRKQNRNGISSNIKAVSHFTGRMSTGQEQ
     148-333: Missing.

Note: No experimental confirmation available.

Show »
Length:147
Mass (Da):15,822
Checksum:i87C295B3F8F4F91E
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti311 – 3111K → R in CAJ20055. (PubMed:16911509)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei112 – 12918VENLQ…HLNQE → AHLSKEYEEANFRAICAR in isoform 3. 1 PublicationVSP_022311Add
BLAST
Alternative sequencei112 – 12716VENLQ…ARHLN → LGGKFAARNKNYCQAS in isoform 2. 1 PublicationVSP_022312Add
BLAST
Alternative sequencei113 – 14735ENLQP…DARLT → VSMGKKNRKQNRNGISSNIK AVSHFTGRMSTGQEQ in isoform 4. 1 PublicationVSP_022313Add
BLAST
Alternative sequencei128 – 333206Missing in isoform 2. 1 PublicationVSP_022314Add
BLAST
Alternative sequencei130 – 333204Missing in isoform 3. 1 PublicationVSP_022315Add
BLAST
Alternative sequencei148 – 333186Missing in isoform 4. 1 PublicationVSP_022316Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3554.1. [Q8N8Q8-1]
RefSeqiNP_776188.1. NM_173827.3. [Q8N8Q8-1]
UniGeneiHs.356697.

Genome annotation databases

EnsembliENST00000295890; ENSP00000295890; ENSG00000163626. [Q8N8Q8-1]
ENST00000449739; ENSP00000394583; ENSG00000163626. [Q8N8Q8-3]
ENST00000510031; ENSP00000424978; ENSG00000163626. [Q8N8Q8-2]
GeneIDi285521.
KEGGihsa:285521.
UCSCiuc003hgm.1. human. [Q8N8Q8-1]

Polymorphism databases

DMDMi38372495.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3554.1. [Q8N8Q8-1 ]
RefSeqi NP_776188.1. NM_173827.3. [Q8N8Q8-1 ]
UniGenei Hs.356697.

3D structure databases

ProteinModelPortali Q8N8Q8.
SMRi Q8N8Q8. Positions 85-283.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 130132. 1 interaction.
STRINGi 9606.ENSP00000295890.

PTM databases

PhosphoSitei Q8N8Q8.

Polymorphism databases

DMDMi 38372495.

Proteomic databases

MaxQBi Q8N8Q8.
PaxDbi Q8N8Q8.
PRIDEi Q8N8Q8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295890 ; ENSP00000295890 ; ENSG00000163626 . [Q8N8Q8-1 ]
ENST00000449739 ; ENSP00000394583 ; ENSG00000163626 . [Q8N8Q8-3 ]
ENST00000510031 ; ENSP00000424978 ; ENSG00000163626 . [Q8N8Q8-2 ]
GeneIDi 285521.
KEGGi hsa:285521.
UCSCi uc003hgm.1. human. [Q8N8Q8-1 ]

Organism-specific databases

CTDi 285521.
GeneCardsi GC04M073920.
HGNCi HGNC:26801. COX18.
HPAi HPA046772.
HPA049489.
MIMi 610428. gene.
neXtProti NX_Q8N8Q8.
PharmGKBi PA145008543.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0706.
GeneTreei ENSGT00530000063506.
HOVERGENi HBG081304.
InParanoidi Q8N8Q8.
KOi K17797.
OrthoDBi EOG7S4X6H.
PhylomeDBi Q8N8Q8.
TreeFami TF323948.

Miscellaneous databases

GenomeRNAii 285521.
NextBioi 95575.
PROi Q8N8Q8.
SOURCEi Search...

Gene expression databases

Bgeei Q8N8Q8.
CleanExi HS_COX18.
ExpressionAtlasi Q8N8Q8. baseline and differential.
Genevestigatori Q8N8Q8.

Family and domain databases

InterProi IPR001708. Membrane_insert_OXA1/ALB3/YidC.
[Graphical view ]
PANTHERi PTHR12428. PTHR12428. 1 hit.
Pfami PF02096. 60KD_IMP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.

Entry informationi

Entry nameiCOX18_HUMAN
AccessioniPrimary (citable) accession number: Q8N8Q8
Secondary accession number(s): Q2PB66
, Q2PB67, Q2PB68, Q49B97, Q6IPP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 87 of the entry and version 1 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3