Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

Enzyme and pathway databases

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_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:
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_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:NDUFAF6
Synonyms:C8orf38
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen 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; 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 (MT-C1D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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.
See also OMIM:252010
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 MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs1057519085Ensembl.1
Natural variantiVAR_07627376S → P in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs1057519084Ensembl.1
Natural variantiVAR_04777099Q → R in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs137853184EnsemblClinVar.1
Natural variantiVAR_076274124I → T in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs201732170EnsemblClinVar.1
Natural variantiVAR_076275269H → D in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs768273248EnsemblClinVar.1
Natural variantiVAR_076276274R → G in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs1057519086Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
137682

MalaCards human disease database

More...
MalaCardsi
NDUFAF6
MIMi252010 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672357

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.<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

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 human proteome resource

More...
ProteomicsDBi
61636
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 186 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

More...
CleanExi
HS_C8orf38

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
HPA047148
HPA050545

<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
126481, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q330K2, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379430

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q330K2

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

More...
SMRi
Q330K2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

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

Belongs to the NDUFAF6 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4411 Eukaryota
COG1562 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000048688

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000146031

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG080309

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q330K2

KEGG Orthology (KO)

More...
KOi
K18163

Identification of Orthologs from Complete Genome Data

More...
OMAi
KIQQVDF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0H0S

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 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.<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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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>
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>
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>
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>
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>
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>
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>
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>
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>
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. Translation N-terminally extended.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 MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs1057519085Ensembl.1
Natural variantiVAR_07627376S → P in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs1057519084Ensembl.1
Natural variantiVAR_04777099Q → R in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs137853184EnsemblClinVar.1
Natural variantiVAR_076274124I → T in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs201732170EnsemblClinVar.1
Natural variantiVAR_076275269H → D in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs768273248EnsemblClinVar.1
Natural variantiVAR_076276274R → G in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs1057519086Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_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 [Q330K2-2]
XP_011515136.1, XM_011516834.2 [Q330K2-2]
XP_011515137.1, XM_011516835.2 [Q330K2-2]
XP_011515138.1, XM_011516836.2 [Q330K2-2]
XP_011515139.1, XM_011516837.2 [Q330K2-2]
XP_011515140.1, XM_011516838.2 [Q330K2-2]
XP_011515141.1, XM_011516839.2 [Q330K2-2]
XP_011515142.1, XM_011516840.2 [Q330K2-2]
XP_011515143.1, XM_011516841.2 [Q330K2-2]
XP_011515144.1, XM_011516842.2 [Q330K2-2]
XP_016868516.1, XM_017013027.1 [Q330K2-2]
XP_016868517.1, XM_017013028.1 [Q330K2-2]
XP_016868518.1, XM_017013029.1 [Q330K2-2]
XP_016868519.1, XM_017013030.1
XP_016868520.1, XM_017013031.1
XP_016868521.1, XM_017013032.1
XP_016868522.1, XM_017013033.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.435500
Hs.729144

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 [Q330K2-2]
XP_011515136.1, XM_011516834.2 [Q330K2-2]
XP_011515137.1, XM_011516835.2 [Q330K2-2]
XP_011515138.1, XM_011516836.2 [Q330K2-2]
XP_011515139.1, XM_011516837.2 [Q330K2-2]
XP_011515140.1, XM_011516838.2 [Q330K2-2]
XP_011515141.1, XM_011516839.2 [Q330K2-2]
XP_011515142.1, XM_011516840.2 [Q330K2-2]
XP_011515143.1, XM_011516841.2 [Q330K2-2]
XP_011515144.1, XM_011516842.2 [Q330K2-2]
XP_016868516.1, XM_017013027.1 [Q330K2-2]
XP_016868517.1, XM_017013028.1 [Q330K2-2]
XP_016868518.1, XM_017013029.1 [Q330K2-2]
XP_016868519.1, XM_017013030.1
XP_016868520.1, XM_017013031.1
XP_016868521.1, XM_017013032.1
XP_016868522.1, XM_017013033.1
UniGeneiHs.435500
Hs.729144

3D structure databases

ProteinModelPortaliQ330K2
SMRiQ330K2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126481, 1 interactor
IntActiQ330K2, 3 interactors
STRINGi9606.ENSP00000379430

PTM databases

iPTMnetiQ330K2
PhosphoSitePlusiQ330K2

Polymorphism and mutation databases

BioMutaiNDUFAF6
DMDMi182676420

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
137682
Structural Biology KnowledgebaseSearch...

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
HPAiHPA047148
HPA050545
MalaCardsiNDUFAF6
MIMi252010 phenotype
612392 gene
neXtProtiNX_Q330K2
OpenTargetsiENSG00000156170
Orphaneti255241 Leigh syndrome with leukodystrophy
PharmGKBiPA142672357

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4411 Eukaryota
COG1562 LUCA
GeneTreeiENSGT00510000048688
HOGENOMiHOG000146031
HOVERGENiHBG080309
InParanoidiQ330K2
KOiK18163
OMAiKIQQVDF
OrthoDBiEOG091G0H0S
PhylomeDBiQ330K2
TreeFamiTF300084

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q330K2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000156170 Expressed in 186 organ(s), highest expression level in right uterine tube
CleanExiHS_C8orf38
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...

<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_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: June 26, 2007
Last sequence update: April 8, 2008
Last modified: December 5, 2018
This is version 104 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

Complete proteome, Reference proteome

Documents

  1. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again