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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

Gene

NDUFA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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: Reactome
  • 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.

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:rs104894884Ensembl.1
Natural variantiVAR_03510037R → S in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894885Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4694.
MalaCardsiNDUFA1.
MIMi252010. phenotype.
OpenTargetsiENSG00000125356.
Orphaneti2609. Isolated NADH-CoQ reductase 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.
TopDownProteomicsiO15239.

PTM databases

iPTMnetiO15239.
PhosphoSitePlusiO15239.

Expressioni

Tissue specificityi

Primarily expressed in heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000125356.
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.
CORUMiO15239.
IntActiO15239. 4 interactors.
MINTiMINT-1419020.
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:rs104894884Ensembl.1
Natural variantiVAR_01448532G → R. Corresponds to variant dbSNP:rs1801316Ensembl.1
Natural variantiVAR_03510037R → S in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894885Ensembl.1
Natural variantiVAR_03617353R → C in a colorectal cancer sample; somatic mutation. 1 Publication1

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

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: September 27, 2017
This is version 153 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families