O15239 (NDUA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

NDUFA1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	70 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	Complex I is composed of 45 different subunits.
Subcellular location	Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.
Tissue specificity	Primarily expressed in heart and skeletal muscle.
Involvement in disease	Defects in NDUFA1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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. Ref.7
Sequence similarities	Belongs to the complex I NDUFA1 subunit family.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	mitochondrial electron transport, NADH to ubiquinone Non-traceable author statement. Source: UniProtKB transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial respiratory chain complex I Inferred from direct assay Ref.5. Source: UniProtKB
Molecular function	NADH dehydrogenase (ubiquinone) activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 70	70	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1		PRO_0000118817
Regions
	Transmembrane	1 – 21	21	Helical; Potential
Natural variations
	Natural variant	8	1	G → R in MT-C1D. Ref.7		VAR_035099
	Natural variant	32	1	G → R. Corresponds to variant rs1801316 [ dbSNP | Ensembl ].		VAR_014485
	Natural variant	37	1	R → S in MT-C1D. Ref.7		VAR_035100
	Natural variant	53	1	R → C in a colorectal cancer sample; somatic mutation. Ref.6		VAR_036173

Sequences

	Sequence		Length	Mass (Da)
	O15239 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: E4004A62117BF253	FASTA	70	8,072
	10 20 30 40 50 60 MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER DRRISGVDRY 70 YVSKGLENID

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I." Zhuchenko O., Wehnert M., Bailey J., Sun Z.S., Lee C.C. Genomics 37:281-288(1996) [PubMed: 8938439] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25." Frattini A., Faranda S., Bagnasco L., Patrosso C., Nulli P., Zucchi I., Vezzoni P. Gene 192:291-298(1997) [PubMed: 9224902] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[3]	"hMWFE gene -- component of human mitochondrial complex I." Zhuchenko O.P., Wehnert M., Bailey J., Sun Z.S., Lee C.C. Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[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: 12611891] [Abstract] Cited for: MASS SPECTROMETRY, IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-53.
[7]	"X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy." Fernandez-Moreira D., Ugalde C., Smeets R., Rodenburg R.J.T., Lopez-Laso E., Ruiz-Falco M.L., Briones P., Martin M.A., Smeitink J.A.M., Arenas J. Ann. Neurol. 61:73-83(2007) [PubMed: 17262856] [Abstract] Cited for: VARIANTS MT-C1D ARG-8 AND SER-37.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	X81900 mRNA. Translation: CAA57489.1. U54993 mRNA. Translation: AAD00084.1. BC000266 mRNA. Translation: AAH00266.1.
IPI	IPI00005695.
RefSeq	NP_004532.1. NM_004541.3.
UniGene	Hs.534168.
3D structure databases
ProteinModelPortal	O15239.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15239. 1 interaction.
MINT	MINT-1419020.
STRING	O15239.
PTM databases
PhosphoSite	O15239.
Proteomic databases
PeptideAtlas	O15239.
PRIDE	O15239.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371437; ENSP00000360492; ENSG00000125356.
GeneID	4694.
KEGG	hsa:4694.
UCSC	uc004esc.2. human.
Organism-specific databases
CTD	4694.
GeneCards	GC0XP119005.
H-InvDB	HIX0203291.
HGNC	HGNC:7683. NDUFA1.
MIM	252010. phenotype. 300078. gene.
neXtProt	NX_O15239.
Orphanet	2609. Isolated NADH-CoQ reductase deficiency.
PharmGKB	PA31489.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21733.
HOGENOM	HBG241339.
HOVERGEN	HBG000813.
InParanoid	O15239.
OMA	WYEILPG.
OrthoDB	EOG4JQ408.
PhylomeDB	O15239.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O15239.
Bgee	O15239.
CleanEx	HS_NDUFA1.
Genevestigator	O15239.
GermOnline	ENSG00000125356. Homo sapiens.
Family and domain databases
InterPro	IPR017384. NADH_Ub_cplx-1_asu_su-1. [Graphical view]
KO	K03945.
PANTHER	PTHR17098. PTHR17098. 1 hit.
PIRSF	PIRSF038095. NDUA1. 1 hit.
ProtoNet	Search...
Other
DrugBank	DB00157. NADH.
NextBio	18102.
SOURCE	Search...

Entry information

Entry name

NDUA1_HUMAN

Accession

Primary (citable) accession number: O15239

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	January 1, 1998
Last modified:	January 25, 2012
This is version 104 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.