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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

Gene

NDUFA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publication

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: ProtInc

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
Alternative name(s):
Complex I-MWFE
Short name:
CI-MWFE
NADH-ubiquinone oxidoreductase MWFE subunit
Gene namesi
Name:NDUFA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000125356.6
HGNCiHGNC:7683 NDUFA1
MIMi300078 gene
neXtProtiNX_O15239

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)1 Publication
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
Natural variantiVAR_0350998G → R in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894884EnsemblClinVar.1
Natural variantiVAR_03510037R → S in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894885EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4694
MalaCardsiNDUFA1
MIMi252010 phenotype
OpenTargetsiENSG00000125356
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA31489

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFA1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001188171 – 70NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1Add BLAST70

Proteomic databases

EPDiO15239
PaxDbiO15239
PeptideAtlasiO15239
PRIDEiO15239
ProteomicsDBi48530
TopDownProteomicsiO15239

PTM databases

iPTMnetiO15239
PhosphoSitePlusiO15239

Expressioni

Tissue specificityi

Primarily expressed in heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000125356 Expressed in 240 organ(s), highest expression level in heart
CleanExiHS_NDUFA1
ExpressionAtlasiO15239 baseline and differential
GenevisibleiO15239 HS

Organism-specific databases

HPAiHPA029768
HPA054359

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.2 Publications

Protein-protein interaction databases

BioGridi110774, 23 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO15239
IntActiO15239, 4 interactors
MINTiO15239
STRINGi9606.ENSP00000360492

Structurei

3D structure databases

ProteinModelPortaliO15239
SMRiO15239
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFA1 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J32W Eukaryota
ENOG4112BUF LUCA
GeneTreeiENSGT00390000007560
HOGENOMiHOG000010206
HOVERGENiHBG000813
InParanoidiO15239
KOiK03945
OMAiQWYLMER
OrthoDBiEOG091G179T
PhylomeDBiO15239
TreeFamiTF333394

Family and domain databases

InterProiView protein in InterPro
IPR017384 NADH_Ub_cplx-1_asu_su-1
PANTHERiPTHR17098 PTHR17098, 1 hit
PfamiView protein in Pfam
PF15879 MWFE, 1 hit
PIRSFiPIRSF038095 NDUA1, 1 hit

Sequencei

Sequence statusi: Complete.

O15239-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER
60 70
DRRISGVDRY YVSKGLENID
Length:70
Mass (Da):8,072
Last modified:January 1, 1998 - v1
Checksum:iE4004A62117BF253
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0350998G → R in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894884EnsemblClinVar.1
Natural variantiVAR_01448532G → R. Corresponds to variant dbSNP:rs1801316EnsemblClinVar.1
Natural variantiVAR_03510037R → S in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894885EnsemblClinVar.1
Natural variantiVAR_03617353R → 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
CCDSiCCDS14590.1
RefSeqiNP_004532.1, NM_004541.3
UniGeneiHs.534168

Genome annotation databases

EnsembliENST00000371437; ENSP00000360492; ENSG00000125356
GeneIDi4694
KEGGihsa:4694

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS14590.1
RefSeqiNP_004532.1, NM_004541.3
UniGeneiHs.534168

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTCelectron microscopy3.70S1-70[»]
5XTDelectron microscopy3.70S1-70[»]
5XTHelectron microscopy3.90S1-70[»]
5XTIelectron microscopy17.40BS/S1-70[»]
ProteinModelPortaliO15239
SMRiO15239
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110774, 23 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO15239
IntActiO15239, 4 interactors
MINTiO15239
STRINGi9606.ENSP00000360492

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

PTM databases

iPTMnetiO15239
PhosphoSitePlusiO15239

Polymorphism and mutation databases

BioMutaiNDUFA1

Proteomic databases

EPDiO15239
PaxDbiO15239
PeptideAtlasiO15239
PRIDEiO15239
ProteomicsDBi48530
TopDownProteomicsiO15239

Protocols and materials databases

DNASUi4694
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371437; ENSP00000360492; ENSG00000125356
GeneIDi4694
KEGGihsa:4694

Organism-specific databases

CTDi4694
DisGeNETi4694
EuPathDBiHostDB:ENSG00000125356.6
GeneCardsiNDUFA1
HGNCiHGNC:7683 NDUFA1
HPAiHPA029768
HPA054359
MalaCardsiNDUFA1
MIMi252010 phenotype
300078 gene
neXtProtiNX_O15239
OpenTargetsiENSG00000125356
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA31489
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J32W Eukaryota
ENOG4112BUF LUCA
GeneTreeiENSGT00390000007560
HOGENOMiHOG000010206
HOVERGENiHBG000813
InParanoidiO15239
KOiK03945
OMAiQWYLMER
OrthoDBiEOG091G179T
PhylomeDBiO15239
TreeFamiTF333394

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSiNDUFA1 human
GeneWikiiNADH_dehydrogenase_(ubiquinone),_alpha_1
GenomeRNAii4694
PROiPR:O15239
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125356 Expressed in 240 organ(s), highest expression level in heart
CleanExiHS_NDUFA1
ExpressionAtlasiO15239 baseline and differential
GenevisibleiO15239 HS

Family and domain databases

InterProiView protein in InterPro
IPR017384 NADH_Ub_cplx-1_asu_su-1
PANTHERiPTHR17098 PTHR17098, 1 hit
PfamiView protein in Pfam
PF15879 MWFE, 1 hit
PIRSFiPIRSF038095 NDUA1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUA1_HUMAN
AccessioniPrimary (citable) accession number: O15239
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 160 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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