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UniProtKB - Q96IL0 (COA8_HUMAN)

Entry version 120 (18 Sep 2019)
Sequence version 3 (14 Dec 2011)
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Protein

Cytochrome c oxidase assembly factor 8

Gene

COA8

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

Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain.2 Publications

Caution

It is uncertain whether Met-1 or Met-14 is the initiator. However, according to some experiments, Met-14 seems to be the initiator.2 Publications
First thought to play a role in the regulation of apoptosis, mediating mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c (COX) from mitochondria and the activation of the caspase cascade (By similarity). However, recent studies show that it is not directly involved in apoptosis regulation but in the protection of COX from oxidatively induced degradation (PubMed:30552096, PubMed:25175347).By similarity2 Publications

<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 - Biological processi

Complete GO annotation on QuickGO ...

<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

Biological processApoptosis

<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:
Cytochrome c oxidase assembly factor 8Curated
Short name:
COA8Curated
Alternative name(s):
Apoptogenic protein 1, mitochondrial
Short name:
APOP-1
<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:COA8Imported
Synonyms:APOP1, APOPT1Imported, C14orf153
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20492 COA8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616003 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96IL0

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<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. Patients present in late infancy or early childhood with evidence of complex IV deficiency, but the phenotype varies widely. Some patients have episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. Some never develop neurologic signs. Brain imaging show a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilizes or even improves over time.1 Publication
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.
Related information in OMIM
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_08202979 – 206Missing in MT-C4D; low steady-state levels of COX subunits, reduced levels of fully assembled COX; highly decreased COX complex IV activity and decreased COX complex II activity in muscle. 2 PublicationsAdd BLAST128
Natural variantiVAR_082030118F → S in MT-C4D. 1 Publication1
Natural variantiVAR_082031124 – 206Missing in MT-C4D. 1 PublicationAdd BLAST83

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		84334

MalaCards human disease database

More...MalaCardsi		COA8
MIMi220110 phenotype

Open Targets

More...OpenTargetsi		ENSG00000256053

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

More...Orphaneti		436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134961925

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		APOPT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		363548522

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 39Mitochondrion1 PublicationAdd BLAST39
<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_000001955940 – 206Cytochrome c oxidase assembly factor 8Add BLAST167

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-terminal mitochondrial targeting sequence is cleaved from the mature protein once in the mitochondrion.2 Publications
In normal conditions, the cytoplasmic precursor protein is rapidly degraded by the ubiquitination-proteasome system (UPS). Oxidative stress induces protein stabilization and import into mitochondria where it protects COX from degradation.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96IL0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96IL0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96IL0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96IL0

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

More...PaxDbi		Q96IL0

PeptideAtlas

More...PeptideAtlasi		Q96IL0

PRoteomics IDEntifications database

More...PRIDEi		Q96IL0

ProteomicsDB human proteome resource

More...ProteomicsDBi		76839

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96IL0

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

More...PhosphoSitePlusi		Q96IL0

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fibroblasts.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In conditions of increased oxidative stress, the protein is stabilized, increasing its mature intramitochondrial form and thereby protecting COX from oxidatively induced degradation.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000256053 Expressed in 200 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96IL0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96IL0 HS

<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)

More...BioGridi		124058, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q96IL0, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000386485

<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 COA8 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4094 Eukaryota
ENOG4111VRW LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008212

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000111828

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96IL0

KEGG Orthology (KO)

More...KOi		K23506

Identification of Orthologs from Complete Genome Data

More...OMAi		REWYRRN

Database of Orthologous Groups

More...OrthoDBi		1410150at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96IL0

TreeFam database of animal gene trees

More...TreeFami		TF315168

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018796 APOPT

The PANTHER Classification System

More...PANTHERi		PTHR31107 PTHR31107, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10231 DUF2315, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96IL0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MLPCAAGARG RGAMVVLRAG KKTFLPPLCR AFACRGCQLA PERGAERRDT 
        60         70         80         90        100
APSGVSRFCP PRKSCHDWIG PPDKYSNLRP VHFYIPENES PLEQKLRKLR 
       110        120        130        140        150
QETQEWNQQF WANQNLTFSK EKEEFIHSRL KTKGLGLRTE SGQKATLNAE 
       160        170        180        190        200
EMADFYKEFL SKNFQKHMYY NRDWYKRNFA ITFFMGKVAL ERIWNKLKQK 

QKKRSN
Length:206
Mass (Da):24,153
Last modified:December 14, 2011 - 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:i7ABC3470215F2244
GO
Isoform 2 (identifier: Q96IL0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     121-125: EKEEF → VRKQH
     126-206: Missing.

Note: Protein may not fold correctly and may be rapidly degraded.1 Publication
Show »
Length:125
Mass (Da):14,320
Checksum:iE6B7FBE0F691C102
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJM4H0YJM4_HUMAN
Cytochrome c oxidase assembly facto...
COA8
72Annotation 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>
H0YJK3H0YJK3_HUMAN
Cytochrome c oxidase assembly facto...
COA8
108Annotation 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>
H0YJ38H0YJ38_HUMAN
Cytochrome c oxidase assembly facto...
COA8
57Annotation 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>
H7BZ67H7BZ67_HUMAN
Cytochrome c oxidase assembly facto...
COA8
118Annotation 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>
G3V4L6G3V4L6_HUMAN
Cytochrome c oxidase assembly facto...
COA8
177Annotation 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>
A0A0U1RR29A0A0U1RR29_HUMAN
Cytochrome c oxidase assembly facto...
COA8
132Annotation 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>
A0A0U1RQS9A0A0U1RQS9_HUMAN
Cytochrome c oxidase assembly facto...
COA8
55Annotation 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>
A0A0U1RQK3A0A0U1RQK3_HUMAN
Cytochrome c oxidase assembly facto...
COA8
76Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH07412 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD96812 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD96823 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti191E → G in CB136383 (PubMed:16712791).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02300027P → A1 PublicationCorresponds to variant dbSNP:rs2274268EnsemblClinVar.1
Natural variantiVAR_08202979 – 206Missing in MT-C4D; low steady-state levels of COX subunits, reduced levels of fully assembled COX; highly decreased COX complex IV activity and decreased COX complex II activity in muscle. 2 PublicationsAdd BLAST128
Natural variantiVAR_03374588N → S. Corresponds to variant dbSNP:rs35960830EnsemblClinVar.1
Natural variantiVAR_082030118F → S in MT-C4D. 1 Publication1
Natural variantiVAR_082031124 – 206Missing in MT-C4D. 1 PublicationAdd BLAST83

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_060246121 – 125EKEEF → VRKQH in isoform 2. 5
Alternative sequenceiVSP_060247126 – 206Missing in isoform 2. Add BLAST81

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL139300 Genomic DNA No translation available.
CB136383 mRNA No translation available.
AK223092 mRNA Translation: BAD96812.1 Different initiation.
AK223103 mRNA Translation: BAD96823.1 Different initiation.
BC007412 mRNA Translation: AAH07412.1 Different initiation.

NCBI Reference Sequences

More...RefSeqi		NP_001289581.1, NM_001302652.1
NP_001289582.1, NM_001302653.1
NP_115750.2, NM_032374.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000409074; ENSP00000386485; ENSG00000256053

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84334

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84334

UCSC genome browser

More...UCSCi		uc010tyc.3 human

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
AL139300 Genomic DNA No translation available.
CB136383 mRNA No translation available.
AK223092 mRNA Translation: BAD96812.1 Different initiation.
AK223103 mRNA Translation: BAD96823.1 Different initiation.
BC007412 mRNA Translation: AAH07412.1 Different initiation.
RefSeqiNP_001289581.1, NM_001302652.1
NP_001289582.1, NM_001302653.1
NP_115750.2, NM_032374.4

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi124058, 3 interactors
IntActiQ96IL0, 1 interactor
STRINGi9606.ENSP00000386485

PTM databases

iPTMnetiQ96IL0
PhosphoSitePlusiQ96IL0

Polymorphism and mutation databases

BioMutaiAPOPT1
DMDMi363548522

Proteomic databases

EPDiQ96IL0
jPOSTiQ96IL0
MassIVEiQ96IL0
MaxQBiQ96IL0
PaxDbiQ96IL0
PeptideAtlasiQ96IL0
PRIDEiQ96IL0
ProteomicsDBi76839

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409074; ENSP00000386485; ENSG00000256053
GeneIDi84334
KEGGihsa:84334
UCSCiuc010tyc.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84334
DisGeNETi84334

GeneCards: human genes, protein and diseases

More...GeneCardsi		COA8
HGNCiHGNC:20492 COA8
MalaCardsiCOA8
MIMi220110 phenotype
616003 gene
neXtProtiNX_Q96IL0
OpenTargetsiENSG00000256053
Orphaneti436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
PharmGKBiPA134961925

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4094 Eukaryota
ENOG4111VRW LUCA
GeneTreeiENSGT00390000008212
HOGENOMiHOG000111828
InParanoidiQ96IL0
KOiK23506
OMAiREWYRRN
OrthoDBi1410150at2759
PhylomeDBiQ96IL0
TreeFamiTF315168

Miscellaneous databases

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

More...ChiTaRSi		APOPT1 human

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

More...GenomeRNAii		84334

Pharos

More...Pharosi		Q96IL0

Protein Ontology

More...PROi		PR:Q96IL0

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000256053 Expressed in 200 organ(s), highest expression level in right testis
ExpressionAtlasiQ96IL0 baseline and differential
GenevisibleiQ96IL0 HS

Family and domain databases

InterProiView protein in InterPro
IPR018796 APOPT
PANTHERiPTHR31107 PTHR31107, 1 hit
PfamiView protein in Pfam
PF10231 DUF2315, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiCOA8_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: Q96IL0
Secondary accession number(s): H7C2Z1, Q53G28
<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 19, 2005
Last sequence update: December 14, 2011
Last modified: September 18, 2019
This is version 120 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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