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UniProtKB - O15239 (NDUA1_HUMAN)
Protein
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
Gene
NDUFA1
Organism
Homo sapiens (Human)
Status
Functioni
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
1 PublicationGO - Molecular functioni
- NADH dehydrogenase (ubiquinone) activity Source: ProtInc
GO - Biological processi
- aerobic respiration Source: ComplexPortal
- mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
- mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
Keywordsi
Biological process | Electron transport, Respiratory chain, Transport |
Enzyme and pathway databases
PathwayCommonsi | O15239 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
SignaLinki | O15239 |
SIGNORi | O15239 |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1Alternative name(s): Complex I-MWFE Short name: CI-MWFE NADH-ubiquinone oxidoreductase MWFE subunit |
Gene namesi | Name:NDUFA1 |
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
HGNCi | HGNC:7683, NDUFA1 |
MIMi | 300078, gene |
neXtProti | NX_O15239 |
VEuPathDBi | HostDB:ENSG00000125356 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 1 Publication; Single-pass membrane protein Sequence analysis; Matrix side Curated
Mitochondrion
- mitochondrial inner membrane Source: ComplexPortal
- mitochondrial membrane Source: UniProtKB
- mitochondrial respiratory chain complex I Source: UniProtKB
- mitochondrion Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 1 – 21 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035099 | 8 | G → R in MC1DN12. 1 PublicationCorresponds to variant dbSNP:rs104894884EnsemblClinVar. | 1 | |
Natural variantiVAR_035100 | 37 | R → S in MC1DN12. 1 PublicationCorresponds to variant dbSNP:rs104894885EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 4694 |
GeneReviewsi | NDUFA1 |
MalaCardsi | NDUFA1 |
MIMi | 301020, phenotype |
OpenTargetsi | ENSG00000125356 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA31489 |
Miscellaneous databases
Pharosi | O15239, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00157, NADH |
DrugCentrali | O15239 |
Genetic variation databases
BioMutai | NDUFA1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000118817 | 1 – 70 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1Add BLAST | 70 |
Proteomic databases
EPDi | O15239 |
jPOSTi | O15239 |
MassIVEi | O15239 |
PaxDbi | O15239 |
PeptideAtlasi | O15239 |
PRIDEi | O15239 |
ProteomicsDBi | 48530 |
TopDownProteomicsi | O15239 |
PTM databases
GlyGeni | O15239, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O15239 |
PhosphoSitePlusi | O15239 |
Expressioni
Tissue specificityi
Primarily expressed in heart and skeletal muscle.
Gene expression databases
Bgeei | ENSG00000125356, Expressed in myocardium and 252 other tissues |
ExpressionAtlasi | O15239, baseline and differential |
Genevisiblei | O15239, HS |
Organism-specific databases
HPAi | ENSG00000125356, Low tissue specificity |
Interactioni
Subunit structurei
Complex I is composed of 45 different subunits.
2 PublicationsProtein-protein interaction databases
BioGRIDi | 110774, 43 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | O15239 |
IntActi | O15239, 7 interactors |
MINTi | O15239 |
STRINGi | 9606.ENSP00000360492 |
Chemistry databases
BindingDBi | O15239 |
Miscellaneous databases
RNActi | O15239, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the complex I NDUFA1 subunit family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S3S5, Eukaryota |
GeneTreei | ENSGT00390000007560 |
HOGENOMi | CLU_185502_2_0_1 |
InParanoidi | O15239 |
OMAi | AYIHKFT |
OrthoDBi | 1608843at2759 |
PhylomeDBi | O15239 |
TreeFami | TF333394 |
Family and domain databases
InterProi | View protein in InterPro IPR017384, NADH_Ub_cplx-1_asu_su-1 |
PANTHERi | PTHR17098, PTHR17098, 1 hit |
Pfami | View protein in Pfam PF15879, MWFE, 1 hit |
PIRSFi | PIRSF038095, NDUA1, 1 hit |
i Sequence
Sequence statusi: Complete.
O15239-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER
60 70
DRRISGVDRY YVSKGLENID
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035099 | 8 | G → R in MC1DN12. 1 PublicationCorresponds to variant dbSNP:rs104894884EnsemblClinVar. | 1 | |
Natural variantiVAR_014485 | 32 | G → R. Corresponds to variant dbSNP:rs1801316EnsemblClinVar. | 1 | |
Natural variantiVAR_035100 | 37 | R → S in MC1DN12. 1 PublicationCorresponds to variant dbSNP:rs104894885EnsemblClinVar. | 1 | |
Natural variantiVAR_036173 | 53 | R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1257734702Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X81900 mRNA Translation: CAA57489.1 U54993 mRNA Translation: AAD00084.1 BC000266 mRNA Translation: AAH00266.1 |
CCDSi | CCDS14590.1 |
RefSeqi | NP_004532.1, NM_004541.3 |
Genome annotation databases
Ensembli | ENST00000371437.5; ENSP00000360492.4; ENSG00000125356.7 |
GeneIDi | 4694 |
KEGGi | hsa:4694 |
MANE-Selecti | ENST00000371437.5; ENSP00000360492.4; NM_004541.4; NP_004532.1 |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X81900 mRNA Translation: CAA57489.1 U54993 mRNA Translation: AAD00084.1 BC000266 mRNA Translation: AAH00266.1 |
CCDSi | CCDS14590.1 |
RefSeqi | NP_004532.1, NM_004541.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5XTC | electron microscopy | 3.70 | S | 1-70 | [»] | |
5XTD | electron microscopy | 3.70 | S | 1-70 | [»] | |
5XTH | electron microscopy | 3.90 | S | 1-70 | [»] | |
5XTI | electron microscopy | 17.40 | BS/S | 1-70 | [»] | |
AlphaFoldDBi | O15239 | |||||
SMRi | O15239 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110774, 43 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | O15239 |
IntActi | O15239, 7 interactors |
MINTi | O15239 |
STRINGi | 9606.ENSP00000360492 |
Chemistry databases
BindingDBi | O15239 |
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00157, NADH |
DrugCentrali | O15239 |
PTM databases
GlyGeni | O15239, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O15239 |
PhosphoSitePlusi | O15239 |
Genetic variation databases
BioMutai | NDUFA1 |
Proteomic databases
EPDi | O15239 |
jPOSTi | O15239 |
MassIVEi | O15239 |
PaxDbi | O15239 |
PeptideAtlasi | O15239 |
PRIDEi | O15239 |
ProteomicsDBi | 48530 |
TopDownProteomicsi | O15239 |
Protocols and materials databases
Antibodypediai | 29846, 229 antibodies from 26 providers |
DNASUi | 4694 |
Genome annotation databases
Ensembli | ENST00000371437.5; ENSP00000360492.4; ENSG00000125356.7 |
GeneIDi | 4694 |
KEGGi | hsa:4694 |
MANE-Selecti | ENST00000371437.5; ENSP00000360492.4; NM_004541.4; NP_004532.1 |
Organism-specific databases
CTDi | 4694 |
DisGeNETi | 4694 |
GeneCardsi | NDUFA1 |
GeneReviewsi | NDUFA1 |
HGNCi | HGNC:7683, NDUFA1 |
HPAi | ENSG00000125356, Low tissue specificity |
MalaCardsi | NDUFA1 |
MIMi | 300078, gene 301020, phenotype |
neXtProti | NX_O15239 |
OpenTargetsi | ENSG00000125356 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA31489 |
VEuPathDBi | HostDB:ENSG00000125356 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S3S5, Eukaryota |
GeneTreei | ENSGT00390000007560 |
HOGENOMi | CLU_185502_2_0_1 |
InParanoidi | O15239 |
OMAi | AYIHKFT |
OrthoDBi | 1608843at2759 |
PhylomeDBi | O15239 |
TreeFami | TF333394 |
Enzyme and pathway databases
PathwayCommonsi | O15239 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
SignaLinki | O15239 |
SIGNORi | O15239 |
Miscellaneous databases
BioGRID-ORCSi | 4694, 108 hits in 707 CRISPR screens |
ChiTaRSi | NDUFA1, human |
GeneWikii | NADH_dehydrogenase_(ubiquinone),_alpha_1 |
GenomeRNAii | 4694 |
Pharosi | O15239, Tclin |
PROi | PR:O15239 |
RNActi | O15239, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125356, Expressed in myocardium and 252 other tissues |
ExpressionAtlasi | O15239, baseline and differential |
Genevisiblei | O15239, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017384, NADH_Ub_cplx-1_asu_su-1 |
PANTHERi | PTHR17098, PTHR17098, 1 hit |
Pfami | View protein in Pfam PF15879, MWFE, 1 hit |
PIRSFi | PIRSF038095, NDUA1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUA1_HUMAN | |
Accessioni | O15239Primary (citable) accession number: O15239 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | January 1, 1998 | |
Last modified: | May 25, 2022 | |
This is version 180 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
3D-structure, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families