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UniProtKB - Q9P0J0 (NDUAD_HUMAN)

Entry version 192 (02 Dec 2020)
Sequence version 3 (23 Jan 2007)
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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

Gene

NDUFA13

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

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091).4 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 - Molecular functioni

  • ATP binding Source: UniProtKB
  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
  • NADH dehydrogenase activity Source: UniProtKB
Complete GO annotation on QuickGO ...

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, Electron transport, Host-virus interaction, Respiratory chain, Transport

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05364-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9P0J0

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-611105, Respiratory electron transport
R-HSA-6799198, Complex I biogenesis

<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%5Fand%5Ftaxonomy%5Fsection">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:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Alternative name(s):
Cell death regulatory protein GRIM-19
Complex I-B16.6
Short name:
CI-B16.6
Gene associated with retinoic and interferon-induced mortality 19 protein
Short name:
GRIM-19
Short name:
Gene associated with retinoic and IFN-induced mortality 19 protein
NADH-ubiquinone oxidoreductase B16.6 subunit
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NDUFA13
Synonyms:GRIM19
ORF Names:CDA016, CGI-39
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 19

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000186010.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:17194, NDUFA13

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609435, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P0J0

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei30 – 51HelicalSequence analysisAdd BLAST22

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

<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

Hurthle cell thyroid carcinoma (HCTC)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type.
Related information in OMIM
Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance.
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_07893857R → H in MC1DN28; reduced NDUFA13 protein level resulting in complex I instability. 1 PublicationCorresponds to variant dbSNP:rs752513525EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		51079

MalaCards human disease database

More...MalaCardsi		NDUFA13
MIMi607464, phenotype
618249, phenotype

Open Targets

More...OpenTargetsi		ENSG00000186010

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

More...Orphaneti		146, Differentiated thyroid carcinoma
255241, Leigh syndrome with leukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671270

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P0J0, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4105781

Drug and drug target database

More...DrugBanki		DB00157, NADH

DrugCentral

More...DrugCentrali		Q9P0J0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NDUFA13

Domain mapping of disease mutations (DMDM)

More...DMDMi		20139242

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001188042 – 144NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13Add BLAST143

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P0J0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P0J0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P0J0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9P0J0

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

More...PaxDbi		Q9P0J0

PeptideAtlas

More...PeptideAtlasi		Q9P0J0

PRoteomics IDEntifications database

More...PRIDEi		Q9P0J0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83552 [Q9P0J0-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9P0J0-1 [Q9P0J0-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P0J0

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

More...PhosphoSitePlusi		Q9P0J0

<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

Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in numerous fetal tissues.

<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

By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA).

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000186010, Expressed in apex of heart and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9P0J0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9P0J0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000186010, Tissue enhanced (blood, testis)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Complex I is composed of 45 different subunits (PubMed:27626371).

Interacts with CARD15, but not with CARD4 (PubMed:12611891, PubMed:15753091).

Interacts with STAT3, but not with STAT1, STAT2 and STAT5A (PubMed:12628925, PubMed:12867595).

Interacts with OLFM4 (PubMed:15059901).

7 Publications

(Microbial infection) Interacts with HHV-8 IRF1, in the nucleus, with HPV-16 E6 and SV40 LT (PubMed:12163600).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119270, 95 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-577, Mitochondrial respiratory chain complex I

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9P0J0

Database of interacting proteins

More...DIPi		DIP-31180N

Protein interaction database and analysis system

More...IntActi		Q9P0J0, 85 interactors

Molecular INTeraction database

More...MINTi		Q9P0J0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000423673

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P0J0, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9P0J0

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni102 – 144Important for inducing cell deathAdd BLAST43

<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 complex I NDUFA13 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3300, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000000719

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_119720_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P0J0

Identification of Orthologs from Complete Genome Data

More...OMAi		REKVWSR

Database of Orthologous Groups

More...OrthoDBi		1496781at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9P0J0

TreeFam database of animal gene trees

More...TreeFami		TF315182

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009346, GRIM-19

The PANTHER Classification System

More...PANTHERi		PTHR12966, PTHR12966, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06212, GRIM-19, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P0J0-1) [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
MAASKVKQDM PPPGGYGPID YKRNLPRRGL SGYSMLAIGI GTLIYGHWSI 
        60         70         80         90        100
MKWNRERRRL QIEDFEARIA LLPLLQAETD RRTLQMLREN LEEEAIIMKD 
       110        120        130        140 
VPDWKVGESV FHTTRWVPPL IGELYGLRTT EEALHASHGF MWYT
Length:144
Mass (Da):16,698
Last modified:January 23, 2007 - 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:i058F608B235FF856
GO
Isoform 2 (identifier: Q9P0J0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-144: YT → ALELQPPLAD...AAARGAVRSC

Show »
Length:222
Mass (Da):24,882
Checksum:iDE2128E0367CD4D9
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DEZ3B4DEZ3_HUMAN
Complex I-B16.6
NDUFA13
120Annotation score:

Annotation score:2 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>
K7EJE1K7EJE1_HUMAN
Complex I-B16.6
NDUFA13
150Annotation score:

Annotation score:2 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>
U3KQP3U3KQP3_HUMAN
Complex I-B16.6
NDUFA13
75Annotation score:

Annotation score:2 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>
K7EP87K7EP87_HUMAN
Complex I-B16.6
NDUFA13
107Annotation score:

Annotation score:2 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 AAD27748 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAG44670 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH00589 differs from that shown. Reason: Erroneous initiation.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 conflicti2A → P (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0459845K → N in a Hurthle cell variant of papillary carcinoma sample. 1 PublicationCorresponds to variant dbSNP:rs137852869EnsemblClinVar.1
Natural variantiVAR_07893857R → H in MC1DN28; reduced NDUFA13 protein level resulting in complex I instability. 1 PublicationCorresponds to variant dbSNP:rs752513525EnsemblClinVar.1
Natural variantiVAR_045985115R → P in a Hurthle cell variant of papillary carcinoma sample. 1 Publication1

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_056644143 – 144YT → ALELQPPLADMGRAELSSNA TTSLVQRRKQAWGRQSWLEQ IWNAGPVCQRLHRGGSRPGA GAAGGLSLWAAAARGAVRSC in isoform 2. 1 Publication2

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
AF286697 mRNA Translation: AAG28167.1
AF155662 mRNA Translation: AAF67481.1
AF132973 mRNA Translation: AAD27748.1 Different initiation.
AF261134 mRNA Translation: AAG44670.1 Different initiation.
AK293965 mRNA Translation: BAG57337.1
AC011448 Genomic DNA No translation available.
BC000589 mRNA Translation: AAH00589.2 Different initiation.
BC009189 mRNA Translation: AAH09189.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12404.2 [Q9P0J0-1]

NCBI Reference Sequences

More...RefSeqi		NP_057049.5, NM_015965.6 [Q9P0J0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000507754; ENSP00000423673; ENSG00000186010 [Q9P0J0-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51079

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51079

UCSC genome browser

More...UCSCi		uc021uqu.2, human [Q9P0J0-1]

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
AF286697 mRNA Translation: AAG28167.1
AF155662 mRNA Translation: AAF67481.1
AF132973 mRNA Translation: AAD27748.1 Different initiation.
AF261134 mRNA Translation: AAG44670.1 Different initiation.
AK293965 mRNA Translation: BAG57337.1
AC011448 Genomic DNA No translation available.
BC000589 mRNA Translation: AAH00589.2 Different initiation.
BC009189 mRNA Translation: AAH09189.1
CCDSiCCDS12404.2 [Q9P0J0-1]
RefSeqiNP_057049.5, NM_015965.6 [Q9P0J0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40W7-28[»]
5XTCelectron microscopy3.70W29-144[»]
5XTDelectron microscopy3.70W7-144[»]
5XTHelectron microscopy3.90W7-144[»]
5XTIelectron microscopy17.40BW/W7-144[»]
SMRiQ9P0J0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119270, 95 interactors
ComplexPortaliCPX-577, Mitochondrial respiratory chain complex I
CORUMiQ9P0J0
DIPiDIP-31180N
IntActiQ9P0J0, 85 interactors
MINTiQ9P0J0
STRINGi9606.ENSP00000423673

Chemistry databases

ChEMBLiCHEMBL4105781
DrugBankiDB00157, NADH
DrugCentraliQ9P0J0

PTM databases

iPTMnetiQ9P0J0
PhosphoSitePlusiQ9P0J0

Polymorphism and mutation databases

BioMutaiNDUFA13
DMDMi20139242

Proteomic databases

EPDiQ9P0J0
jPOSTiQ9P0J0
MassIVEiQ9P0J0
MaxQBiQ9P0J0
PaxDbiQ9P0J0
PeptideAtlasiQ9P0J0
PRIDEiQ9P0J0
ProteomicsDBi83552 [Q9P0J0-1]
TopDownProteomicsiQ9P0J0-1 [Q9P0J0-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28492, 271 antibodies

Genome annotation databases

EnsembliENST00000507754; ENSP00000423673; ENSG00000186010 [Q9P0J0-1]
GeneIDi51079
KEGGihsa:51079
UCSCiuc021uqu.2, human [Q9P0J0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51079
DisGeNETi51079
EuPathDBiHostDB:ENSG00000186010.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		NDUFA13
HGNCiHGNC:17194, NDUFA13
HPAiENSG00000186010, Tissue enhanced (blood, testis)
MalaCardsiNDUFA13
MIMi607464, phenotype
609435, gene
618249, phenotype
neXtProtiNX_Q9P0J0
OpenTargetsiENSG00000186010
Orphaneti146, Differentiated thyroid carcinoma
255241, Leigh syndrome with leukodystrophy
PharmGKBiPA142671270

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3300, Eukaryota
GeneTreeiENSGT00390000000719
HOGENOMiCLU_119720_0_0_1
InParanoidiQ9P0J0
OMAiREKVWSR
OrthoDBi1496781at2759
PhylomeDBiQ9P0J0
TreeFamiTF315182

Enzyme and pathway databases

BioCyciMetaCyc:HS05364-MONOMER
PathwayCommonsiQ9P0J0
ReactomeiR-HSA-611105, Respiratory electron transport
R-HSA-6799198, Complex I biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51079, 186 hits in 849 CRISPR screens

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

More...ChiTaRSi		NDUFA13, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NDUFA13

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

More...GenomeRNAii		51079
PharosiQ9P0J0, Tclin

Protein Ontology

More...PROi		PR:Q9P0J0
RNActiQ9P0J0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000186010, Expressed in apex of heart and 235 other tissues
ExpressionAtlasiQ9P0J0, baseline and differential
GenevisibleiQ9P0J0, HS

Family and domain databases

InterProiView protein in InterPro
IPR009346, GRIM-19
PANTHERiPTHR12966, PTHR12966, 1 hit
PfamiView protein in Pfam
PF06212, GRIM-19, 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 nameiNDUAD_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: Q9P0J0
Secondary accession number(s): B4DF76
, K7EK58, Q6PKI0, Q9H2L3, Q9Y327
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: January 23, 2007
Last modified: December 2, 2020
This is version 192 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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