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Q96I36

- COX14_HUMAN

UniProt

Q96I36 - COX14_HUMAN

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Protein

Cytochrome c oxidase assembly protein COX14

Gene
COX14, C12orf62
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1.2 Publications

GO - Biological processi

  1. mitochondrial respiratory chain complex IV assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly protein COX14
Gene namesi
Name:COX14
Synonyms:C12orf62
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:28216. COX14.

Subcellular locationi

Mitochondrion membrane; Single-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei15 – 3723Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial membrane Source: UniProtKB-SubCell
  3. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy, diffuse alteration of the white-matter myelination, and numerous cavities in the parieto-occipital region, brainstem, and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia.

Organism-specific databases

Orphaneti254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA143485391.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 5757Cytochrome c oxidase assembly protein COX14PRO_0000263677Add
BLAST

Proteomic databases

MaxQBiQ96I36.
PaxDbiQ96I36.
PRIDEiQ96I36.

PTM databases

PhosphoSiteiQ96I36.

Expressioni

Gene expression databases

BgeeiQ96I36.
CleanExiHS_C12orf62.
GenevestigatoriQ96I36.

Organism-specific databases

HPAiHPA044618.

Interactioni

Subunit structurei

Component of some MITRAC complex.1 Publication

Protein-protein interaction databases

BioGridi124413. 4 interactions.
IntActiQ96I36. 4 interactions.
STRINGi9606.ENSP00000326052.

Structurei

3D structure databases

ProteinModelPortaliQ96I36.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG26035.
HOGENOMiHOG000059541.
HOVERGENiHBG081243.
InParanoidiQ96I36.
KOiK18181.
OMAiASCENTR.
OrthoDBiEOG7HXCV6.
PhylomeDBiQ96I36.
TreeFamiTF338398.

Family and domain databases

InterProiIPR029208. COX14.
[Graphical view]
PfamiPF14880. COX14. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96I36-1 [UniParc]FASTAAdd to Basket

« Hide

MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE   50
QKTSGIM 57
Length:57
Mass (Da):6,600
Last modified:December 1, 2001 - v1
Checksum:i974BBDFA78CF7C9A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191M → I Found in a patient with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. 1 Publication
VAR_067038

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK312180 mRNA. Translation: BAG35113.1.
AC025154 Genomic DNA. No translation available.
AC074032 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58130.1.
BC007849 mRNA. Translation: AAH07849.1.
CCDSiCCDS8800.1.
RefSeqiNP_001244062.1. NM_001257133.1.
NP_001244063.1. NM_001257134.1.
NP_116290.1. NM_032901.3.
UniGeneiHs.388645.

Genome annotation databases

EnsembliENST00000317943; ENSP00000326052; ENSG00000178449.
ENST00000548985; ENSP00000447776; ENSG00000178449.
ENST00000550487; ENSP00000446524; ENSG00000178449.
ENST00000550654; ENSP00000450331; ENSG00000178449.
GeneIDi84987.
KEGGihsa:84987.
UCSCiuc001rwb.2. human.

Polymorphism databases

DMDMi74732019.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK312180 mRNA. Translation: BAG35113.1 .
AC025154 Genomic DNA. No translation available.
AC074032 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58130.1 .
BC007849 mRNA. Translation: AAH07849.1 .
CCDSi CCDS8800.1.
RefSeqi NP_001244062.1. NM_001257133.1.
NP_001244063.1. NM_001257134.1.
NP_116290.1. NM_032901.3.
UniGenei Hs.388645.

3D structure databases

ProteinModelPortali Q96I36.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124413. 4 interactions.
IntActi Q96I36. 4 interactions.
STRINGi 9606.ENSP00000326052.

PTM databases

PhosphoSitei Q96I36.

Polymorphism databases

DMDMi 74732019.

Proteomic databases

MaxQBi Q96I36.
PaxDbi Q96I36.
PRIDEi Q96I36.

Protocols and materials databases

DNASUi 84987.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317943 ; ENSP00000326052 ; ENSG00000178449 .
ENST00000548985 ; ENSP00000447776 ; ENSG00000178449 .
ENST00000550487 ; ENSP00000446524 ; ENSG00000178449 .
ENST00000550654 ; ENSP00000450331 ; ENSG00000178449 .
GeneIDi 84987.
KEGGi hsa:84987.
UCSCi uc001rwb.2. human.

Organism-specific databases

CTDi 84987.
GeneCardsi GC12P050509.
HGNCi HGNC:28216. COX14.
HPAi HPA044618.
MIMi 614478. gene.
neXtProti NX_Q96I36.
Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
PharmGKBi PA143485391.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG26035.
HOGENOMi HOG000059541.
HOVERGENi HBG081243.
InParanoidi Q96I36.
KOi K18181.
OMAi ASCENTR.
OrthoDBi EOG7HXCV6.
PhylomeDBi Q96I36.
TreeFami TF338398.

Miscellaneous databases

GenomeRNAii 84987.
NextBioi 75564.
PROi Q96I36.
SOURCEi Search...

Gene expression databases

Bgeei Q96I36.
CleanExi HS_C12orf62.
Genevestigatori Q96I36.

Family and domain databases

InterProi IPR029208. COX14.
[Graphical view ]
Pfami PF14880. COX14. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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].
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Brain.
  5. "Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis."
    Weraarpachai W., Sasarman F., Nishimura T., Antonicka H., Aure K., Rotig A., Lombes A., Shoubridge E.A.
    Am. J. Hum. Genet. 90:142-151(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MITOCHONDRIAL DISORDER, VARIANT ILE-19, SUBCELLULAR LOCATION, FUNCTION.
  6. "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation."
    Mick D.U., Dennerlein S., Wiese H., Reinhold R., Pacheu-Grau D., Lorenzi I., Sasarman F., Weraarpachai W., Shoubridge E.A., Warscheid B., Rehling P.
    Cell 151:1528-1541(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN SOME MITRAC COMPLEX.
  7. "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: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiCOX14_HUMAN
AccessioniPrimary (citable) accession number: Q96I36
Secondary accession number(s): B2R5G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 77 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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