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O15239 (NDUA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length70 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Ref.5

Subcellular location

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Tissue specificity

Primarily expressed in heart and skeletal muscle.

Involvement in disease

Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the complex I NDUFA1 subunit family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 7070NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
PRO_0000118817

Regions

Transmembrane1 – 2121Helical; Potential

Natural variations

Natural variant81G → R in MT-C1D. Ref.7
VAR_035099
Natural variant321G → R.
Corresponds to variant rs1801316 [ dbSNP | Ensembl ].
VAR_014485
Natural variant371R → S in MT-C1D. Ref.7
VAR_035100
Natural variant531R → C in a colorectal cancer sample; somatic mutation. Ref.6
VAR_036173

Sequences

Sequence LengthMass (Da)Tools
O15239 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: E4004A62117BF253

FASTA708,072
        10         20         30         40         50         60 
MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER DRRISGVDRY 

        70 
YVSKGLENID 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
[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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: VARIANTS MT-C1D ARG-8 AND SER-37.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X81900 mRNA. Translation: CAA57489.1.
U54993 mRNA. Translation: AAD00084.1.
BC000266 mRNA. Translation: AAH00266.1.
CCDSCCDS14590.1.
RefSeqNP_004532.1. NM_004541.3.
UniGeneHs.534168.

3D structure databases

ProteinModelPortalO15239.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110774. 1 interaction.
IntActO15239. 3 interactions.
MINTMINT-1419020.
STRING9606.ENSP00000360492.

Chemistry

ChEMBLCHEMBL2363065.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteO15239.

Proteomic databases

MaxQBO15239.
PaxDbO15239.
PeptideAtlasO15239.
PRIDEO15239.

Protocols and materials databases

DNASU4694.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371437; ENSP00000360492; ENSG00000125356.
GeneID4694.
KEGGhsa:4694.
UCSCuc004esc.4. human.

Organism-specific databases

CTD4694.
GeneCardsGC0XP119005.
HGNCHGNC:7683. NDUFA1.
HPAHPA054359.
MIM252010. phenotype.
300078. gene.
neXtProtNX_O15239.
Orphanet2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBPA31489.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79354.
HOGENOMHOG000010206.
HOVERGENHBG000813.
InParanoidO15239.
KOK03945.
OMAPWQWYLM.
OrthoDBEOG7NGQFC.
PhylomeDBO15239.
TreeFamTF333394.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressO15239.
BgeeO15239.
CleanExHS_NDUFA1.
GenevestigatorO15239.

Family and domain databases

InterProIPR017384. NADH_Ub_cplx-1_asu_su-1.
[Graphical view]
PANTHERPTHR17098. PTHR17098. 1 hit.
PIRSFPIRSF038095. NDUA1. 1 hit.
ProtoNetSearch...

Other

ChiTaRSNDUFA1. human.
GeneWikiNADH_dehydrogenase_(ubiquinone),_alpha_1.
GenomeRNAi4694.
NextBio18102.
PROO15239.
SOURCESearch...

Entry information

Entry nameNDUA1_HUMAN
AccessionPrimary (citable) accession number: O15239
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: July 9, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM