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Protein

Protoheme IX farnesyltransferase, mitochondrial

Gene

COX10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Converts protoheme IX and farnesyl diphosphate to heme O.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • farnesyltranstransferase activity Source: ProtInc
  • protoheme IX farnesyltransferase activity Source: Reactome

GO - Biological processi

  • cellular respiration Source: HGNC
  • heme a biosynthetic process Source: HGNC
  • heme biosynthetic process Source: Reactome
  • heme O biosynthetic process Source: InterPro
  • mitochondrial electron transport, cytochrome c to oxygen Source: HGNC
  • mitochondrial fission Source: Ensembl
  • proton transmembrane transport Source: GOC
  • respiratory chain complex IV assembly Source: HGNC

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processHeme biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00191-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.5.1.B36 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-189451 Heme biosynthesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protoheme IX farnesyltransferase, mitochondrial (EC:2.5.1.141By similarity)
Alternative name(s):
Heme O synthase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COX10
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000006695.10

Human Gene Nomenclature Database

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HGNCi
HGNC:2260 COX10

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602125 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12887

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Transmembranei235 – 255HelicalSequence analysisAdd BLAST21
Transmembranei257 – 277HelicalSequence analysisAdd BLAST21
Transmembranei280 – 300HelicalSequence analysisAdd BLAST21
Transmembranei309 – 329HelicalSequence analysisAdd BLAST21
Transmembranei364 – 384HelicalSequence analysisAdd BLAST21
Transmembranei411 – 431HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.
See also OMIM:220110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026562196T → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894555EnsemblClinVar.1
Natural variantiVAR_026563204N → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894560EnsemblClinVar.1
Natural variantiVAR_026564225P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894556EnsemblClinVar.1
Natural variantiVAR_076181288G → R in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs753048807Ensembl.1
Natural variantiVAR_026565336D → G in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_026566336D → V in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_076182420P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs773079584Ensembl.1
Leigh syndrome (LS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
1352

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
COX10

MalaCards human disease database

More...
MalaCardsi
COX10
MIMi220110 phenotype
256000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000006695

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
254905 Isolated cytochrome C oxidase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26776

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COX10

Domain mapping of disease mutations (DMDM)

More...
DMDMi
292495084

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000035923? – 443Protoheme IX farnesyltransferase, mitochondrial
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12887

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12887

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q12887

PeptideAtlas

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PeptideAtlasi
Q12887

PRoteomics IDEntifications database

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PRIDEi
Q12887

ProteomicsDB human proteome resource

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ProteomicsDBi
59002

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q12887

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q12887

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000006695 Expressed in 200 organ(s), highest expression level in muscle tissue

CleanEx database of gene expression profiles

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CleanExi
HS_COX10

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12887 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12887 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA032005
HPA032006

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107745, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261643

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q12887

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the UbiA prenyltransferase family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1380 Eukaryota
COG0109 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153771

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000189335

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051084

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12887

KEGG Orthology (KO)

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KOi
K02257

Identification of Orthologs from Complete Genome Data

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OMAi
WQFPHFW

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0F6B

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12887

TreeFam database of animal gene trees

More...
TreeFami
TF105071

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13957 PT_UbiA_Cox10, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00154 CyoE_CtaB, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006369 Protohaem_IX_farnesylTrfase
IPR016315 Protohaem_IX_farnesylTrfase_mt
IPR000537 UbiA_prenyltransferase
IPR030470 UbiA_prenylTrfase_CS

The PANTHER Classification System

More...
PANTHERi
PTHR43448 PTHR43448, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01040 UbiA, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001773 COX10, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01473 cyoE_ctaB, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00943 UBIA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12887-1) [UniParc]FASTAAdd to basket

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
MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF
60 70 80 90 100
QHFSFLKRMY VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR
110 120 130 140 150
PLSPPSLSLS RKPNEKELIE LEPDSVIEDS IDVGKETKEE KRWKEMKLQV
160 170 180 190 200
YDLPGILARL SKIKLTALVV STTAAGFALA PGPFDWPCFL LTSVGTGLAS
210 220 230 240 250
CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA TCCAVPGVAI
260 270 280 290 300
LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW
310 320 330 340 350
TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP
360 370 380 390 400
GLCRRVALRH CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY
410 420 430 440
VDADRRSSRR LFFCSLWHLP LLLLLMLTCK RPSGGGDAGP PPS
Length:443
Mass (Da):48,910
Last modified:March 23, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEC39E8D8966F4094
GO
Isoform 2 (identifier: Q12887-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MAASPHTLSSRLLTG → MICQEFWLDYPKSNS
     16-207: Missing.

Note: No experimental confirmation available.
Show »
Length:251
Mass (Da):27,594
Checksum:i432213178F241F5F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C101H7C101_HUMAN
Protoheme IX farnesyltransferase, m...
COX10
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSJ3J3KSJ3_HUMAN
Protoheme IX farnesyltransferase, m...
COX10
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRW4J3KRW4_HUMAN
Protoheme IX farnesyltransferase, m...
COX10
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti303A → T in AAA21148 (PubMed:8078902).Curated1
Sequence conflicti394Y → H in AAA21148 (PubMed:8078902).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05737128T → I. Corresponds to variant dbSNP:rs16948978EnsemblClinVar.1
Natural variantiVAR_05737262T → S. Corresponds to variant dbSNP:rs2230351EnsemblClinVar.1
Natural variantiVAR_05737397Y → C. Corresponds to variant dbSNP:rs16948986EnsemblClinVar.1
Natural variantiVAR_060233159R → Q5 PublicationsCorresponds to variant dbSNP:rs2072279EnsemblClinVar.1
Natural variantiVAR_026562196T → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894555EnsemblClinVar.1
Natural variantiVAR_026563204N → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894560EnsemblClinVar.1
Natural variantiVAR_026564225P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894556EnsemblClinVar.1
Natural variantiVAR_064768258L → H1 PublicationCorresponds to variant dbSNP:rs587780911EnsemblClinVar.1
Natural variantiVAR_076181288G → R in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs753048807Ensembl.1
Natural variantiVAR_026565336D → G in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_026566336D → V in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_060234340G → D1 PublicationCorresponds to variant dbSNP:rs1050214Ensembl.1
Natural variantiVAR_076182420P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs773079584Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0568671 – 15MAASP…RLLTG → MICQEFWLDYPKSNS in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_05686816 – 207Missing in isoform 2. 1 PublicationAdd BLAST192

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U09466 mRNA Translation: AAA21148.1
U82010
, U82004, U82005, U82006, U82007, U82008, U82009 Genomic DNA Translation: AAC51330.1
AK295925 mRNA Translation: BAG58712.1
AK312718 mRNA Translation: BAG35592.1
BT006985 mRNA Translation: AAP35631.1
AC005224 Genomic DNA No translation available.
AC005389 Genomic DNA No translation available.
BC000060 mRNA Translation: AAH00060.1
BC006394 mRNA Translation: AAH06394.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11166.1 [Q12887-1]

Protein sequence database of the Protein Information Resource

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PIRi
I38603

NCBI Reference Sequences

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RefSeqi
NP_001294.2, NM_001303.3 [Q12887-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.462278
Hs.462281

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261643; ENSP00000261643; ENSG00000006695 [Q12887-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1352

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1352

UCSC genome browser

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UCSCi
uc002gof.5 human [Q12887-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U09466 mRNA Translation: AAA21148.1
U82010
, U82004, U82005, U82006, U82007, U82008, U82009 Genomic DNA Translation: AAC51330.1
AK295925 mRNA Translation: BAG58712.1
AK312718 mRNA Translation: BAG35592.1
BT006985 mRNA Translation: AAP35631.1
AC005224 Genomic DNA No translation available.
AC005389 Genomic DNA No translation available.
BC000060 mRNA Translation: AAH00060.1
BC006394 mRNA Translation: AAH06394.1
CCDSiCCDS11166.1 [Q12887-1]
PIRiI38603
RefSeqiNP_001294.2, NM_001303.3 [Q12887-1]
UniGeneiHs.462278
Hs.462281

3D structure databases

ProteinModelPortaliQ12887
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107745, 1 interactor
STRINGi9606.ENSP00000261643

PTM databases

iPTMnetiQ12887
PhosphoSitePlusiQ12887

Polymorphism and mutation databases

BioMutaiCOX10
DMDMi292495084

Proteomic databases

EPDiQ12887
MaxQBiQ12887
PaxDbiQ12887
PeptideAtlasiQ12887
PRIDEiQ12887
ProteomicsDBi59002

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
1352
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261643; ENSP00000261643; ENSG00000006695 [Q12887-1]
GeneIDi1352
KEGGihsa:1352
UCSCiuc002gof.5 human [Q12887-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1352
DisGeNETi1352
EuPathDBiHostDB:ENSG00000006695.10

GeneCards: human genes, protein and diseases

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GeneCardsi
COX10
GeneReviewsiCOX10

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0013550
HGNCiHGNC:2260 COX10
HPAiHPA032005
HPA032006
MalaCardsiCOX10
MIMi220110 phenotype
256000 phenotype
602125 gene
neXtProtiNX_Q12887
OpenTargetsiENSG00000006695
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA26776

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1380 Eukaryota
COG0109 LUCA
GeneTreeiENSGT00940000153771
HOGENOMiHOG000189335
HOVERGENiHBG051084
InParanoidiQ12887
KOiK02257
OMAiWQFPHFW
OrthoDBiEOG091G0F6B
PhylomeDBiQ12887
TreeFamiTF105071

Enzyme and pathway databases

BioCyciMetaCyc:HS00191-MONOMER
BRENDAi2.5.1.B36 2681
ReactomeiR-HSA-189451 Heme biosynthesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
COX10 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
COX10

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1352

Protein Ontology

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PROi
PR:Q12887

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000006695 Expressed in 200 organ(s), highest expression level in muscle tissue
CleanExiHS_COX10
ExpressionAtlasiQ12887 baseline and differential
GenevisibleiQ12887 HS

Family and domain databases

CDDicd13957 PT_UbiA_Cox10, 1 hit
HAMAPiMF_00154 CyoE_CtaB, 1 hit
InterProiView protein in InterPro
IPR006369 Protohaem_IX_farnesylTrfase
IPR016315 Protohaem_IX_farnesylTrfase_mt
IPR000537 UbiA_prenyltransferase
IPR030470 UbiA_prenylTrfase_CS
PANTHERiPTHR43448 PTHR43448, 1 hit
PfamiView protein in Pfam
PF01040 UbiA, 1 hit
PIRSFiPIRSF001773 COX10, 1 hit
TIGRFAMsiTIGR01473 cyoE_ctaB, 1 hit
PROSITEiView protein in PROSITE
PS00943 UBIA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOX10_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12887
Secondary accession number(s): B2R6U5
, B4DJ50, O15334, Q969F7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: March 23, 2010
Last modified: December 5, 2018
This is version 170 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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