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UniProtKB - Q330K2 (NDUF6_HUMAN)

Entry version 118 (02 Dec 2020)
Sequence version 2 (08 Apr 2008)
Previous versions | rss
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Protein

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Gene

NDUFAF6

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

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.2 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

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q330K2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		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) complex I, assembly factor 6
Alternative name(s):
Putative phytoene synthase
<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:NDUFAF6
Synonyms:C8orf38
<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 8

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000156170.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:28625, NDUFAF6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612392, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q330K2

<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

<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>Keywords - Cellular componenti

Cytoplasm, 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

Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17)3 Publications
The disease is 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. MC1DN17 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_07627269D → V in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519085EnsemblClinVar.1
Natural variantiVAR_07627376S → P in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519084EnsemblClinVar.1
Natural variantiVAR_04777099Q → R in MC1DN17. 2 PublicationsCorresponds to variant dbSNP:rs137853184EnsemblClinVar.1
Natural variantiVAR_076274124I → T in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs201732170EnsemblClinVar.1
Natural variantiVAR_076275269H → D in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs768273248EnsemblClinVar.1
Natural variantiVAR_076276274R → G in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519086EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		137682

MalaCards human disease database

More...MalaCardsi		NDUFAF6
MIMi618239, phenotype

Open Targets

More...OpenTargetsi		ENSG00000156170

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

More...Orphaneti		255241, Leigh syndrome with leukodystrophy
3337, Primary Fanconi renotubular syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672357

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q330K2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NDUFAF6

Domain mapping of disease mutations (DMDM)

More...DMDMi		182676420

<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 – 44MitochondrionSequence analysisAdd BLAST44
<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_000029177245 – 333NADH dehydrogenase (ubiquinone) complex I, assembly factor 6Add BLAST289

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q330K2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q330K2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q330K2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q330K2

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

More...PaxDbi		Q330K2

PeptideAtlas

More...PeptideAtlasi		Q330K2

PRoteomics IDEntifications database

More...PRIDEi		Q330K2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61636 [Q330K2-1]
61637 [Q330K2-2]
61638 [Q330K2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q330K2

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

More...PhosphoSitePlusi		Q330K2

<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

More...Bgeei		ENSG00000156170, Expressed in quadriceps femoris and 202 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q330K2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q330K2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000156170, Low tissue specificity

<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 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		126481, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q330K2, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379430

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q330K2, 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		Q330K2

Database of comparative protein structure models

More...ModBasei		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 NDUFAF6 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4411, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00510000048688

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_037269_6_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q330K2

Identification of Orthologs from Complete Genome Data

More...OMAi		KIQQVDF

Database of Orthologous Groups

More...OrthoDBi		616989at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q330K2

TreeFam database of animal gene trees

More...TreeFami		TF300084

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.600.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008949, Isoprenoid_synthase_dom_sf

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48576, SSF48576, 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 (3+)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 3 <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 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q330K2-1) [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
MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS 
        60         70         80         90        100
GPGAWGTDHY CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV 
       110        120        130        140        150
KDSVSEKTIG LMRMQFWKKT VEDIYCDNPP HQPVAIELWK AVKRHNLTKR 
       160        170        180        190        200
WLMKIVDERE KNLDDKAYRN IKELENYAEN TQSSLLYLTL EILGIKDLHA 
       210        220        230        240        250
DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG VSQEDFLRRN 
       260        270        280        290        300
QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK 
       310        320        330 
IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY
Length:333
Mass (Da):38,176
Last modified:April 8, 2008 - v2
<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:i1D3521A817F4B4BB
GO
Isoform 2 (identifier: Q330K2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAASAHGSVW...GTDHYCLELL → MPISISHSSWLVQ

Show »
Length:281
Mass (Da):32,847
Checksum:i54EE09C910AE936B
GO
Isoform 3 (identifier: Q330K2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     100-120: VKDSVSEKTIGLMRMQFWKKT → AGLLLLLSCCTVCHWDLNTKHC
     121-333: Missing.

Show »
Length:121
Mass (Da):13,125
Checksum:i31887C9EDE668C41
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B6P0A0A075B6P0_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
241Annotation 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>
E5RFN5E5RFN5_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
133Annotation 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>
E5RGD6E5RGD6_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
102Annotation 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>
E5RHX9E5RHX9_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
95Annotation 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>
H0YBT9H0YBT9_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
142Annotation 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>
H0YB46H0YB46_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
93Annotation 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>
H0YBQ9H0YBQ9_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
97Annotation 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>
H0YC61H0YC61_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
102Annotation 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>
H7C250H7C250_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
82Annotation 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>
H0YB05H0YB05_HUMAN
NADH dehydrogenase (ubiquinone) com...
NDUFAF6
58Annotation 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 BAG60807 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence EAW91734 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07627269D → V in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519085EnsemblClinVar.1
Natural variantiVAR_07627376S → P in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519084EnsemblClinVar.1
Natural variantiVAR_04777099Q → R in MC1DN17. 2 PublicationsCorresponds to variant dbSNP:rs137853184EnsemblClinVar.1
Natural variantiVAR_076274124I → T in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs201732170EnsemblClinVar.1
Natural variantiVAR_076275269H → D in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs768273248EnsemblClinVar.1
Natural variantiVAR_076276274R → G in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519086EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0262301 – 65MAASA…CLELL → MPISISHSSWLVQ in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_026231100 – 120VKDSV…FWKKT → AGLLLLLSCCTVCHWDLNTK HC in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_026232121 – 333Missing in isoform 3. 1 PublicationAdd BLAST213

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
AY444560 mRNA Translation: AAS68536.1
AC087752 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91734.1 Sequence problems.
BC028166 mRNA Translation: AAH28166.1
AK298631 mRNA Translation: BAG60807.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6266.2 [Q330K2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001317511.1, NM_001330582.1
NP_689629.2, NM_152416.3 [Q330K2-1]
XP_011515135.1, XM_011516833.2
XP_011515136.1, XM_011516834.2
XP_011515137.1, XM_011516835.2
XP_011515138.1, XM_011516836.2
XP_011515139.1, XM_011516837.2
XP_011515140.1, XM_011516838.2
XP_011515141.1, XM_011516839.2
XP_011515142.1, XM_011516840.2
XP_011515143.1, XM_011516841.2
XP_011515144.1, XM_011516842.2
XP_016868516.1, XM_017013027.1
XP_016868517.1, XM_017013028.1
XP_016868518.1, XM_017013029.1
XP_016868519.1, XM_017013030.1
XP_016868520.1, XM_017013031.1
XP_016868521.1, XM_017013032.1
XP_016868522.1, XM_017013033.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000396124; ENSP00000379430; ENSG00000156170 [Q330K2-1]
ENST00000518258; ENSP00000428788; ENSG00000156170 [Q330K2-3]
ENST00000523337; ENSP00000429038; ENSG00000156170 [Q330K2-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		137682

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:137682

UCSC genome browser

More...UCSCi		uc003yhj.4, human [Q330K2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY444560 mRNA Translation: AAS68536.1
AC087752 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91734.1 Sequence problems.
BC028166 mRNA Translation: AAH28166.1
AK298631 mRNA Translation: BAG60807.1 Different initiation.
CCDSiCCDS6266.2 [Q330K2-1]
RefSeqiNP_001317511.1, NM_001330582.1
NP_689629.2, NM_152416.3 [Q330K2-1]
XP_011515135.1, XM_011516833.2
XP_011515136.1, XM_011516834.2
XP_011515137.1, XM_011516835.2
XP_011515138.1, XM_011516836.2
XP_011515139.1, XM_011516837.2
XP_011515140.1, XM_011516838.2
XP_011515141.1, XM_011516839.2
XP_011515142.1, XM_011516840.2
XP_011515143.1, XM_011516841.2
XP_011515144.1, XM_011516842.2
XP_016868516.1, XM_017013027.1
XP_016868517.1, XM_017013028.1
XP_016868518.1, XM_017013029.1
XP_016868519.1, XM_017013030.1
XP_016868520.1, XM_017013031.1
XP_016868521.1, XM_017013032.1
XP_016868522.1, XM_017013033.1

3D structure databases

SMRiQ330K2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126481, 3 interactors
IntActiQ330K2, 3 interactors
STRINGi9606.ENSP00000379430

PTM databases

iPTMnetiQ330K2
PhosphoSitePlusiQ330K2

Polymorphism and mutation databases

BioMutaiNDUFAF6
DMDMi182676420

Proteomic databases

EPDiQ330K2
jPOSTiQ330K2
MassIVEiQ330K2
MaxQBiQ330K2
PaxDbiQ330K2
PeptideAtlasiQ330K2
PRIDEiQ330K2
ProteomicsDBi61636 [Q330K2-1]
61637 [Q330K2-2]
61638 [Q330K2-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		63909, 17 antibodies

The DNASU plasmid repository

More...DNASUi		137682

Genome annotation databases

EnsembliENST00000396124; ENSP00000379430; ENSG00000156170 [Q330K2-1]
ENST00000518258; ENSP00000428788; ENSG00000156170 [Q330K2-3]
ENST00000523337; ENSP00000429038; ENSG00000156170 [Q330K2-3]
GeneIDi137682
KEGGihsa:137682
UCSCiuc003yhj.4, human [Q330K2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		137682
DisGeNETi137682
EuPathDBiHostDB:ENSG00000156170.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		NDUFAF6
HGNCiHGNC:28625, NDUFAF6
HPAiENSG00000156170, Low tissue specificity
MalaCardsiNDUFAF6
MIMi612392, gene
618239, phenotype
neXtProtiNX_Q330K2
OpenTargetsiENSG00000156170
Orphaneti255241, Leigh syndrome with leukodystrophy
3337, Primary Fanconi renotubular syndrome
PharmGKBiPA142672357

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4411, Eukaryota
GeneTreeiENSGT00510000048688
HOGENOMiCLU_037269_6_0_1
InParanoidiQ330K2
OMAiKIQQVDF
OrthoDBi616989at2759
PhylomeDBiQ330K2
TreeFamiTF300084

Enzyme and pathway databases

PathwayCommonsiQ330K2
ReactomeiR-HSA-6799198, Complex I biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		137682, 57 hits in 848 CRISPR screens

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

More...ChiTaRSi		NDUFAF6, human

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

More...GenomeRNAii		137682
PharosiQ330K2, Tbio

Protein Ontology

More...PROi		PR:Q330K2
RNActiQ330K2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000156170, Expressed in quadriceps femoris and 202 other tissues
ExpressionAtlasiQ330K2, baseline and differential
GenevisibleiQ330K2, HS

Family and domain databases

Gene3Di1.10.600.10, 1 hit
InterProiView protein in InterPro
IPR008949, Isoprenoid_synthase_dom_sf
SUPFAMiSSF48576, SSF48576, 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 nameiNDUF6_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: Q330K2
Secondary accession number(s): A8MT28
, A8MWF0, B4DQ45, Q8N6U6
<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: June 26, 2007
Last sequence update: April 8, 2008
Last modified: December 2, 2020
This is version 118 of the entry and version 2 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

Reference proteome

Documents

  1. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 8
    Human chromosome 8: 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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