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

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

mitochondrial electron transport, NADH to ubiquinone
Source: UniProtKB
Non-traceable author statementⁱ
- 9878551
mitochondrial respiratory chain complex I assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 27626371

View the complete GO annotation on QuickGO ...

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

EuPathDBⁱ	HostDB:ENSG00000125356.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7683 NDUFA1
MIMⁱ	300078 gene
neXtProtⁱ	NX_O15239

Topology

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

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 complex I 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
ProteomicsDBⁱ	48530
TopDownProteomicsⁱ	O15239

PTM databases

iPTMnetⁱ	O15239
PhosphoSitePlusⁱ	O15239

Expressionⁱ

Tissue specificityⁱ

Primarily expressed in heart and skeletal muscle.

Gene expression databases

Bgeeⁱ	ENSG00000125356 Expressed in 240 organ(s), highest expression level in heart
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
ComplexPortalⁱ	CPX-577 Mitochondrial respiratory chain complex I
CORUMⁱ	O15239
IntActⁱ	O15239, 4 interactors
Molecular INTeraction database More...MINTⁱ	O15239
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:rs104894884EnsemblClinVar.	1
Natural variantⁱVAR_014485	32	G → R. Corresponds to variant dbSNP:rs1801316EnsemblClinVar.	1
Natural variantⁱVAR_035100	37	R → S in MT-C1D. 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
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

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O15239	NADH dehydrogenase (Ubiquinone) 1 alpha subcomplex, 1, 7.5kDa		HUMAN		70	UniRef100_O15239

Protein	Similar proteins		Species	Score	Length	Source
O15239	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		GORGO		70	UniRef90_O15239
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		PANPA		70
NADH dehydrogenase (Ubiquinone) 1 alpha subcomplex, 1, 7.5kDa		HUMAN		70
NADH dehydrogenase (Ubiquinone) 1 alpha subcomplex, 1, 7.5kDa		PANTR		70
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		MACMU		70
+6

Protein	Similar proteins		Species	Score	Length	Source
O15239	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		GORGO		70	UniRef50_O15239
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		PANPA		70
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1	)	BOVIN		70
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		VARVR		70
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		CRIGR		70
+202

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
UniGeneⁱ	Hs.534168

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	O15239
SMRⁱ	O15239
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110774, 23 interactors
ComplexPortalⁱ	CPX-577 Mitochondrial respiratory chain complex I
CORUMⁱ	O15239
IntActⁱ	O15239, 4 interactors
MINTⁱ	O15239
STRINGⁱ	9606.ENSP00000360492

Chemistry databases

ChEMBLⁱ	CHEMBL2363065
DrugBankⁱ	DB00157 NADH

PTM databases

iPTMnetⁱ	O15239
PhosphoSitePlusⁱ	O15239

Polymorphism and mutation databases

BioMutaⁱ	NDUFA1

BioMutaⁱ

NDUFA1

Proteomic databases

EPDⁱ	O15239
PaxDbⁱ	O15239
PeptideAtlasⁱ	O15239
PRIDEⁱ	O15239
ProteomicsDBⁱ	48530
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
DisGeNETⁱ	4694
EuPathDBⁱ	HostDB:ENSG00000125356.6
GeneCardsⁱ	NDUFA1
HGNCⁱ	HGNC:7683 NDUFA1
HPAⁱ	HPA029768 HPA054359
MalaCardsⁱ	NDUFA1
MIMⁱ	252010 phenotype 300078 gene
neXtProtⁱ	NX_O15239
OpenTargetsⁱ	ENSG00000125356
Orphanetⁱ	2609 Isolated complex I deficiency
PharmGKBⁱ	PA31489
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410J32W Eukaryota ENOG4112BUF LUCA
GeneTreeⁱ	ENSGT00390000007560
HOGENOMⁱ	HOG000010206
HOVERGENⁱ	HBG000813
InParanoidⁱ	O15239
KOⁱ	K03945
OMAⁱ	QWYLMER
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 Expressed in 240 organ(s), highest expression level in heart
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
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:	November 7, 2018
	This is version 160 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, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
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
Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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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

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

Mitochondrion

Cytosol

Mitochondrion

Other locations

Topology

Keywords - 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

Keywords - Diseasei

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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ