NDUFA1

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
Traceable author statementⁱ
- 10200266

Complete GO annotation...

GO - Biological processⁱ

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

Complete GO annotation...

Keywordsⁱ

Biological process	Electron transport, Respiratory chain, Transport

Biological process

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

Reactomeⁱ	R-HSA-611105. Respiratory electron transport. R-HSA-6799198. Complex I biogenesis.

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7683. NDUFA1.

HGNCⁱ

HGNC:7683. NDUFA1.

Subcellular locationⁱ

Mitochondrion inner membrane
1 Publication
Manual assertion inferred by curator fromⁱ
- Ref.5
  "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
  Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
  J. Biol. Chem. 278:13619-13622(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
; Single-pass membrane protein Sequence analysis; Matrix side Curated

Topology

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transmembraneⁱ	1 – 21	HelicalSequence analysisAdd BLAST		21

GO - Cellular componentⁱ

cytosol Source: HPA
integral component of membrane Source: UniProtKB-KW
mitochondrial inner membrane Source: Reactome
mitochondrial membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 17209039
mitochondrial respiratory chain complex I
Source: UniProtKB
Inferred from direct assayⁱ
- 17209039
- 12611891
mitochondrion Source: HPA

Complete GO annotation...

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.

Keywords - Diseaseⁱ

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4694.
MalaCards human disease database More...MalaCardsⁱ	NDUFA1.
MIMⁱ	252010. phenotype.
Open Targets More...OpenTargetsⁱ	ENSG00000125356.
Orphanetⁱ	2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBⁱ	PA31489.

Chemistry databases

ChEMBLⁱ	CHEMBL2363065.
Drug and drug target database More...DrugBankⁱ	DB00157. NADH.

Polymorphism and mutation databases

BioMutaⁱ	NDUFA1.

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.
PaxDbⁱ	O15239.
PeptideAtlas More...PeptideAtlasⁱ	O15239.
PRIDEⁱ	O15239.
TopDownProteomicsⁱ	O15239.

PTM databases

iPTMnetⁱ	O15239.
PhosphoSitePlusⁱ	O15239.

Expressionⁱ

Tissue specificityⁱ

Primarily expressed in heart and skeletal muscle.

Gene expression databases

Bgeeⁱ	ENSG00000125356.
CleanExⁱ	HS_NDUFA1.
ExpressionAtlasⁱ	O15239. baseline and differential.
Genevisibleⁱ	O15239. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA029768. HPA054359.

HPAⁱ

HPA029768.
HPA054359.

Interactionⁱ

Subunit structureⁱ

Complex I is composed of 45 different subunits.2 Publications

Protein-protein interaction databases

BioGridⁱ	110774. 23 interactors.
IntActⁱ	O15239. 4 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-1419020.
STRINGⁱ	9606.ENSP00000360492.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O15239.
SMRⁱ	O15239.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the complex I NDUFA1 subunit family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410J32W. Eukaryota. ENOG4112BUF. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000007560.
HOGENOMⁱ	HOG000010206.
HOVERGENⁱ	HBG000813.
InParanoidⁱ	O15239.
KEGG Orthology (KO) More...KOⁱ	K03945.
OMAⁱ	QWYLMER.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G179T.
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.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF15879. MWFE. 1 hit.
PIRSFⁱ	PIRSF038095. NDUA1. 1 hit.

Sequenceⁱ

Sequence statusⁱ: Complete.

O15239-1 [UniParc]FASTA Add 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 key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_035099	8	G → R in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894884Ensembl.	1
Natural variantⁱVAR_014485	32	G → R. Corresponds to variant dbSNP:rs1801316Ensembl.	1
Natural variantⁱVAR_035100	37	R → S in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs104894885Ensembl.	1
Natural variantⁱVAR_036173	53	R → C in a colorectal cancer sample; somatic mutation. 1 Publication	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14590.1.
NCBI Reference Sequences More...RefSeqⁱ	NP_004532.1. NM_004541.3.
UniGeneⁱ	Hs.534168.

Genome annotation databases

Ensemblⁱ	ENST00000371437; ENSP00000360492; ENSG00000125356.
GeneIDⁱ	4694.
KEGGⁱ	hsa:4694.

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

Entry	Cluster members	Organisms	Length	Cluster ID	Cluster name	Size
O15239	Q6IBB5	Homo sapiens (Human)	70	UniRef100_O15239	Cluster: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1	2

Entry	Cluster members	Organisms	Length	Cluster ID	Cluster name	Size
O15239	Q6IBB5 Q8SPF0 Q7JGX4 H2QZ22 Q5R5K2 G1RY12	Homo sapiens (Human) Gorilla gorilla gorilla (Western lowland gorilla) Pan paniscus (Pygmy chimpanzee) (Bonobo) Pan troglodytes (Chimpanzee) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys)	70	UniRef90_O15239	Cluster: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1	7

Entry	Cluster members	Organisms	Length	Cluster ID	Cluster name	Size
O15239	Q6IBB5 G1RY12 Q5R5K2 Q8SPF0 Q7JGX4 H2QZ22 K9IW09 UPI000980F8FC UPI0004421B7E A0A1S3FFN9 +39	Homo sapiens (Human) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Gorilla gorilla gorilla (Western lowland gorilla) Pan paniscus (Pygmy chimpanzee) (Bonobo) Pan troglodytes (Chimpanzee) Desmodus rotundus (Vampire bat) Castor canadensis (Beaver) Lipotes vexillifer (Yangtze river dolphin) Dipodomys ordii (Ord's kangaroo rat) And more	70	UniRef50_O15239	Cluster: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1	50

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14590.1.
NCBI Reference Sequences More...RefSeqⁱ	NP_004532.1. NM_004541.3.
UniGeneⁱ	Hs.534168.

3D structure databases

ProteinModelPortalⁱ	O15239.
SMRⁱ	O15239.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110774. 23 interactors.
IntActⁱ	O15239. 4 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-1419020.
STRINGⁱ	9606.ENSP00000360492.

Chemistry databases

ChEMBLⁱ	CHEMBL2363065.
Drug and drug target database More...DrugBankⁱ	DB00157. NADH.

PTM databases

iPTMnetⁱ	O15239.
PhosphoSitePlusⁱ	O15239.

Polymorphism and mutation databases

BioMutaⁱ	NDUFA1.

BioMutaⁱ

NDUFA1.

Proteomic databases

EPDⁱ	O15239.
PaxDbⁱ	O15239.
PeptideAtlas More...PeptideAtlasⁱ	O15239.
PRIDEⁱ	O15239.
TopDownProteomicsⁱ	O15239.

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	4694.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000371437; ENSP00000360492; ENSG00000125356.
GeneIDⁱ	4694.
KEGGⁱ	hsa:4694.

Organism-specific databases

CTDⁱ	4694.
DisGeNET More...DisGeNETⁱ	4694.
GeneCardsⁱ	NDUFA1.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7683. NDUFA1.
Human Protein Atlas More...HPAⁱ	HPA029768. HPA054359.
MalaCards human disease database More...MalaCardsⁱ	NDUFA1.
MIMⁱ	252010. phenotype. 300078. gene.
neXtProtⁱ	NX_O15239.
Open Targets More...OpenTargetsⁱ	ENSG00000125356.
Orphanetⁱ	2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBⁱ	PA31489.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410J32W. Eukaryota. ENOG4112BUF. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000007560.
HOGENOMⁱ	HOG000010206.
HOVERGENⁱ	HBG000813.
InParanoidⁱ	O15239.
KEGG Orthology (KO) More...KOⁱ	K03945.
OMAⁱ	QWYLMER.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G179T.
PhylomeDBⁱ	O15239.
TreeFamⁱ	TF333394.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-611105. Respiratory electron transport. R-HSA-6799198. Complex I biogenesis.

Reactomeⁱ

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

Miscellaneous databases

ChiTaRSⁱ	NDUFA1. human.
GeneWikiⁱ	NADH_dehydrogenase_(ubiquinone),_alpha_1.
GenomeRNAiⁱ	4694.
Protein Ontology More...PROⁱ	PR:O15239.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000125356.
CleanExⁱ	HS_NDUFA1.
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.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF15879. MWFE. 1 hit.
PIRSFⁱ	PIRSF038095. NDUA1. 1 hit.
ProtoNetⁱ	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:	August 30, 2017
	This is version 152 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

Complete proteome, Reference proteome

Documents

Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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

UniProtKB

UniParc

Help

UniRef

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Supporting data

UniProtKB - O15239 (NDUA1_HUMAN)

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NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

Select a section on the left to see content.

<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

<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

<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 - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Topology

<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 - Cellular componenti

<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

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

Protein-protein interaction databases

<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

<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

Phylogenomic databases

Family and domain databases

<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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

Natural variant

Sequence databases

Genome annotation databases

<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

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequenceⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ