UniProtKB - Q5TEU4 (NDUF5_HUMAN)
Protein
Arginine-hydroxylase NDUFAF5, mitochondrial
Gene
NDUFAF5
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- methyltransferase activity Source: UniProtKB-KW
- oxidoreductase activity Source: UniProtKB-KW
GO - Biological processi
- methylation Source: UniProtKB-KW
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
- peptidyl-arginine hydroxylation Source: UniProtKB
Keywordsi
Molecular function | Methyltransferase, Oxidoreductase, Transferase |
Enzyme and pathway databases
PathwayCommonsi | Q5TEU4 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Names & Taxonomyi
Protein namesi | |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000101247.17 |
HGNCi | HGNC:15899, NDUFAF5 |
MIMi | 612360, gene |
neXtProti | NX_Q5TEU4 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 2 Publications
Note: Peripherally localized on the matrix face of the mitochondrial inner membrane.1 Publication
Mitochondrion
- extrinsic component of mitochondrial inner membrane Source: UniProtKB
- mitochondrial inner membrane Source: Reactome
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067956 | 159 | L → F in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs267606689EnsemblClinVar. | 1 | |
Natural variantiVAR_054119 | 229 | L → P in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs118203929EnsemblClinVar. | 1 | |
Natural variantiVAR_076864 | 250 | G → V in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs757043077EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Leigh syndrome, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 79133 |
MalaCardsi | NDUFAF5 |
MIMi | 618238, phenotype |
OpenTargetsi | ENSG00000101247 |
Orphaneti | 2609, Isolated complex I deficiency 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA25780 |
Miscellaneous databases
Pharosi | Q5TEU4, Tbio |
Polymorphism and mutation databases
BioMutai | NDUFAF5 |
DMDMi | 74762247 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 36 | MitochondrionSequence analysisAdd BLAST | 36 | |
ChainiPRO_0000307213 | 37 – 345 | Arginine-hydroxylase NDUFAF5, mitochondrialAdd BLAST | 309 |
Proteomic databases
EPDi | Q5TEU4 |
jPOSTi | Q5TEU4 |
MassIVEi | Q5TEU4 |
MaxQBi | Q5TEU4 |
PaxDbi | Q5TEU4 |
PeptideAtlasi | Q5TEU4 |
PRIDEi | Q5TEU4 |
ProteomicsDBi | 65062 [Q5TEU4-1] 65063 [Q5TEU4-2] |
PTM databases
iPTMneti | Q5TEU4 |
PhosphoSitePlusi | Q5TEU4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000101247, Expressed in bone marrow and 210 other tissues |
ExpressionAtlasi | Q5TEU4, baseline and differential |
Genevisiblei | Q5TEU4, HS |
Organism-specific databases
HPAi | ENSG00000101247, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Binary interactionsi
Q5TEU4
With | #Exp. | IntAct |
---|---|---|
NDUFAF8 [A1L188] | 9 | EBI-10762958,EBI-20593474 |
Protein-protein interaction databases
BioGRIDi | 122554, 48 interactors |
IntActi | Q5TEU4, 44 interactors |
MINTi | Q5TEU4 |
STRINGi | 9606.ENSP00000367346 |
Miscellaneous databases
RNActi | Q5TEU4, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the methyltransferase superfamily.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2940, Eukaryota |
GeneTreei | ENSGT00390000014687 |
HOGENOMi | CLU_046586_0_2_1 |
InParanoidi | Q5TEU4 |
OMAi | IYFVGWK |
OrthoDBi | 691814at2759 |
PhylomeDBi | Q5TEU4 |
TreeFami | TF315222 |
Family and domain databases
InterProi | View protein in InterPro IPR013216, Methyltransf_11 IPR029063, SAM-dependent_MTases |
Pfami | View protein in Pfam PF08241, Methyltransf_11, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB3KR61 | B3KR61_HUMAN | Arginine-hydroxylase NDUFAF5, mitoc... | NDUFAF5 hCG_1811060 | 267 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067956 | 159 | L → F in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs267606689EnsemblClinVar. | 1 | |
Natural variantiVAR_054119 | 229 | L → P in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs118203929EnsemblClinVar. | 1 | |
Natural variantiVAR_076864 | 250 | G → V in MC1DN16. 1 PublicationCorresponds to variant dbSNP:rs757043077EnsemblClinVar. | 1 | |
Natural variantiVAR_035376 | 337 | L → F. Corresponds to variant dbSNP:rs6042368Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028637 | 110 – 160 | ETIGK…VSSLS → LQLFHCRKLLESFSKLTLQK MLC in isoform 2. 1 PublicationAdd BLAST | 51 |
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 |
CCDSi | CCDS13118.1 [Q5TEU4-1] CCDS33441.1 [Q5TEU4-2] |
RefSeqi | NP_001034464.1, NM_001039375.2 [Q5TEU4-2] NP_077025.2, NM_024120.4 [Q5TEU4-1] |
Genome annotation databases
Ensembli | ENST00000378106; ENSP00000367346; ENSG00000101247 [Q5TEU4-1] ENST00000463598; ENSP00000420497; ENSG00000101247 [Q5TEU4-2] |
GeneIDi | 79133 |
KEGGi | hsa:79133 |
UCSCi | uc002wom.4, human [Q5TEU4-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS13118.1 [Q5TEU4-1] CCDS33441.1 [Q5TEU4-2] |
RefSeqi | NP_001034464.1, NM_001039375.2 [Q5TEU4-2] NP_077025.2, NM_024120.4 [Q5TEU4-1] |
3D structure databases
SMRi | Q5TEU4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122554, 48 interactors |
IntActi | Q5TEU4, 44 interactors |
MINTi | Q5TEU4 |
STRINGi | 9606.ENSP00000367346 |
PTM databases
iPTMneti | Q5TEU4 |
PhosphoSitePlusi | Q5TEU4 |
Polymorphism and mutation databases
BioMutai | NDUFAF5 |
DMDMi | 74762247 |
Proteomic databases
EPDi | Q5TEU4 |
jPOSTi | Q5TEU4 |
MassIVEi | Q5TEU4 |
MaxQBi | Q5TEU4 |
PaxDbi | Q5TEU4 |
PeptideAtlasi | Q5TEU4 |
PRIDEi | Q5TEU4 |
ProteomicsDBi | 65062 [Q5TEU4-1] 65063 [Q5TEU4-2] |
Protocols and materials databases
Antibodypediai | 24277, 119 antibodies |
DNASUi | 79133 |
Genome annotation databases
Ensembli | ENST00000378106; ENSP00000367346; ENSG00000101247 [Q5TEU4-1] ENST00000463598; ENSP00000420497; ENSG00000101247 [Q5TEU4-2] |
GeneIDi | 79133 |
KEGGi | hsa:79133 |
UCSCi | uc002wom.4, human [Q5TEU4-1] |
Organism-specific databases
CTDi | 79133 |
DisGeNETi | 79133 |
EuPathDBi | HostDB:ENSG00000101247.17 |
GeneCardsi | NDUFAF5 |
HGNCi | HGNC:15899, NDUFAF5 |
HPAi | ENSG00000101247, Tissue enhanced (skeletal) |
MalaCardsi | NDUFAF5 |
MIMi | 612360, gene 618238, phenotype |
neXtProti | NX_Q5TEU4 |
OpenTargetsi | ENSG00000101247 |
Orphaneti | 2609, Isolated complex I deficiency 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA25780 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2940, Eukaryota |
GeneTreei | ENSGT00390000014687 |
HOGENOMi | CLU_046586_0_2_1 |
InParanoidi | Q5TEU4 |
OMAi | IYFVGWK |
OrthoDBi | 691814at2759 |
PhylomeDBi | Q5TEU4 |
TreeFami | TF315222 |
Enzyme and pathway databases
PathwayCommonsi | Q5TEU4 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 79133, 99 hits in 846 CRISPR screens |
ChiTaRSi | NDUFAF5, human |
GenomeRNAii | 79133 |
Pharosi | Q5TEU4, Tbio |
PROi | PR:Q5TEU4 |
RNActi | Q5TEU4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101247, Expressed in bone marrow and 210 other tissues |
ExpressionAtlasi | Q5TEU4, baseline and differential |
Genevisiblei | Q5TEU4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR013216, Methyltransf_11 IPR029063, SAM-dependent_MTases |
Pfami | View protein in Pfam PF08241, Methyltransf_11, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUF5_HUMAN | |
Accessioni | Q5TEU4Primary (citable) accession number: Q5TEU4 Secondary accession number(s): A8K166, Q6GPH3, Q9H6F4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | December 21, 2004 | |
Last modified: | December 2, 2020 | |
This is version 137 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations