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Entry version 128 (08 May 2019)
Sequence version 1 (21 Dec 2004)
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Protein

Arginine-hydroxylase NDUFAF5, mitochondrial

Gene

NDUFAF5

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

Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable).Curated2 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

GO - Biological processi

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

Molecular functionMethyltransferase, Oxidoreductase, Transferase

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:
Arginine-hydroxylase NDUFAF5, mitochondrialCurated (EC:1.-.-.-1 Publication)
Alternative name(s):
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5Imported
Putative methyltransferase NDUFAF5 (EC:2.1.1.-Curated)
<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:NDUFAF5Imported
Synonyms:C20orf7Imported
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15899 NDUFAF5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612360 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5TEU4

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

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

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

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

Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16)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. MC1DN16 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_067956159L → F in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs267606689EnsemblClinVar.1
Natural variantiVAR_054119229L → P in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs118203929EnsemblClinVar.1
Natural variantiVAR_076864250G → V in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs757043077EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
79133

MalaCards human disease database

More...
MalaCardsi
NDUFAF5
MIMi618238 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101247

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

More...
Orphaneti
2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25780

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NDUFAF5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74762247

<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 – 36MitochondrionSequence analysisAdd BLAST36
<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_000030721337 – 345Arginine-hydroxylase NDUFAF5, mitochondrialAdd BLAST309

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5TEU4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5TEU4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5TEU4

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

More...
PaxDbi
Q5TEU4

PeptideAtlas

More...
PeptideAtlasi
Q5TEU4

PRoteomics IDEntifications database

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PRIDEi
Q5TEU4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65062
65063 [Q5TEU4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5TEU4

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

More...
PhosphoSitePlusi
Q5TEU4

<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
ENSG00000101247 Expressed in 195 organ(s), highest expression level in lower esophagus muscularis layer

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5TEU4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5TEU4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051184

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NDUFAF8, leading to stabilize NDUFAF5 (PubMed:27499296).

Interacts with NDUFS7 (PubMed:27226634).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122554, 45 interactors

Protein interaction database and analysis system

More...
IntActi
Q5TEU4, 27 interactors

Molecular INTeraction database

More...
MINTi
Q5TEU4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000367346

<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
Q5TEU4

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 methyltransferase superfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2940 Eukaryota
COG0500 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014687

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000265011

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5TEU4

KEGG Orthology (KO)

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KOi
K18162

Identification of Orthologs from Complete Genome Data

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OMAi
SMHWIND

Database of Orthologous Groups

More...
OrthoDBi
691814at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5TEU4

TreeFam database of animal gene trees

More...
TreeFami
TF315222

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013216 Methyltransf_11
IPR029063 SAM-dependent_MTases

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08241 Methyltransf_11, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335 SSF53335, 1 hit

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

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

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

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5TEU4-1) [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
MLRPAGLWRL CRRPWAARVP AENLGRREVT SGVSPRGSTS PRTLNIFDRD
60 70 80 90 100
LKRKQKNWAA RQPEPTKFDY LKEEVGSRIA DRVYDIPRNF PLALDLGCGR
110 120 130 140 150
GYIAQYLNKE TIGKFFQADI AENALKNSSE TEIPTVSVLA DEEFLPFKEN
160 170 180 190 200
TFDLVVSSLS LHWVNDLPRA LEQIHYILKP DGVFIGAMFG GDTLYELRCS
210 220 230 240 250
LQLAETEREG GFSPHISPFT AVNDLGHLLG RAGFNTLTVD TDEIQVNYPG
260 270 280 290 300
MFELMEDLQG MGESNCAWNR KALLHRDTML AAAAVYREMY RNEDGSVPAT
310 320 330 340
YQIYYMIGWK YHESQARPAE RGSATVSFGE LGKINNLMPP GKKSQ
Length:345
Mass (Da):38,918
Last modified:December 21, 2004 - v1
<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:i96E1D29B91980026
GO
Isoform 2 (identifier: Q5TEU4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     110-160: ETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS → LQLFHCRKLLESFSKLTLQKMLC

Show »
Length:317
Mass (Da):36,076
Checksum:iA55D8FDE885083AB
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KR61B3KR61_HUMAN
Arginine-hydroxylase NDUFAF5, mitoc...
NDUFAF5 hCG_1811060
267Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067956159L → F in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs267606689EnsemblClinVar.1
Natural variantiVAR_054119229L → P in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs118203929EnsemblClinVar.1
Natural variantiVAR_076864250G → V in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs757043077EnsemblClinVar.1
Natural variantiVAR_035376337L → F. Corresponds to variant dbSNP:rs6042368Ensembl.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_028637110 – 160ETIGK…VSSLS → LQLFHCRKLLESFSKLTLQK MLC in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK025977 mRNA Translation: BAB15305.1
AK289781 mRNA Translation: BAF82470.1
AL161659 Genomic DNA No translation available.
AL109657 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10311.1
BC005984 mRNA Translation: AAH05984.1
BC073158 mRNA Translation: AAH73158.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13118.1 [Q5TEU4-1]
CCDS33441.1 [Q5TEU4-2]

NCBI Reference Sequences

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RefSeqi
NP_001034464.1, NM_001039375.2 [Q5TEU4-2]
NP_077025.2, NM_024120.4 [Q5TEU4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378106; ENSP00000367346; ENSG00000101247 [Q5TEU4-1]
ENST00000463598; ENSP00000420497; ENSG00000101247 [Q5TEU4-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79133

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79133

UCSC genome browser

More...
UCSCi
uc002wom.4 human [Q5TEU4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AK025977 mRNA Translation: BAB15305.1
AK289781 mRNA Translation: BAF82470.1
AL161659 Genomic DNA No translation available.
AL109657 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10311.1
BC005984 mRNA Translation: AAH05984.1
BC073158 mRNA Translation: AAH73158.1
CCDSiCCDS13118.1 [Q5TEU4-1]
CCDS33441.1 [Q5TEU4-2]
RefSeqiNP_001034464.1, NM_001039375.2 [Q5TEU4-2]
NP_077025.2, NM_024120.4 [Q5TEU4-1]

3D structure databases

SMRiQ5TEU4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122554, 45 interactors
IntActiQ5TEU4, 27 interactors
MINTiQ5TEU4
STRINGi9606.ENSP00000367346

PTM databases

iPTMnetiQ5TEU4
PhosphoSitePlusiQ5TEU4

Polymorphism and mutation databases

BioMutaiNDUFAF5
DMDMi74762247

Proteomic databases

EPDiQ5TEU4
jPOSTiQ5TEU4
MaxQBiQ5TEU4
PaxDbiQ5TEU4
PeptideAtlasiQ5TEU4
PRIDEiQ5TEU4
ProteomicsDBi65062
65063 [Q5TEU4-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
79133
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378106; ENSP00000367346; ENSG00000101247 [Q5TEU4-1]
ENST00000463598; ENSP00000420497; ENSG00000101247 [Q5TEU4-2]
GeneIDi79133
KEGGihsa:79133
UCSCiuc002wom.4 human [Q5TEU4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79133
DisGeNETi79133

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NDUFAF5
HGNCiHGNC:15899 NDUFAF5
HPAiHPA051184
MalaCardsiNDUFAF5
MIMi612360 gene
618238 phenotype
neXtProtiNX_Q5TEU4
OpenTargetsiENSG00000101247
Orphaneti2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA25780

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2940 Eukaryota
COG0500 LUCA
GeneTreeiENSGT00390000014687
HOGENOMiHOG000265011
InParanoidiQ5TEU4
KOiK18162
OMAiSMHWIND
OrthoDBi691814at2759
PhylomeDBiQ5TEU4
TreeFamiTF315222

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

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

More...
GenomeRNAii
79133

Protein Ontology

More...
PROi
PR:Q5TEU4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101247 Expressed in 195 organ(s), highest expression level in lower esophagus muscularis layer
ExpressionAtlasiQ5TEU4 baseline and differential
GenevisibleiQ5TEU4 HS

Family and domain databases

InterProiView protein in InterPro
IPR013216 Methyltransf_11
IPR029063 SAM-dependent_MTases
PfamiView protein in Pfam
PF08241 Methyltransf_11, 1 hit
SUPFAMiSSF53335 SSF53335, 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 nameiNDUF5_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: Q5TEU4
Secondary accession number(s): A8K166, Q6GPH3, Q9H6F4
<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: October 23, 2007
Last sequence update: December 21, 2004
Last modified: May 8, 2019
This is version 128 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human 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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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