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O15239

- NDUA1_HUMAN

UniProt

O15239 - NDUA1_HUMAN

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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

Gene

NDUFA1

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  3. respiratory electron transport chain Source: Reactome
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:7683. NDUFA1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1 – 2121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrial membrane Source: UniProtKB
  4. mitochondrial respiratory chain complex I Source: UniProtKB
  5. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81G → R in MT-C1D. 1 Publication
VAR_035099
Natural varianti37 – 371R → S in MT-C1D. 1 Publication
VAR_035100

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi252010. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA31489.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 7070NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1PRO_0000118817Add
BLAST

Proteomic databases

MaxQBiO15239.
PaxDbiO15239.
PeptideAtlasiO15239.
PRIDEiO15239.

PTM databases

PhosphoSiteiO15239.

Expressioni

Tissue specificityi

Primarily expressed in heart and skeletal muscle.

Gene expression databases

BgeeiO15239.
CleanExiHS_NDUFA1.
ExpressionAtlasiO15239. baseline and differential.
GenevestigatoriO15239.

Organism-specific databases

HPAiHPA054359.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi110774. 4 interactions.
IntActiO15239. 3 interactions.
MINTiMINT-1419020.
STRINGi9606.ENSP00000360492.

Structurei

3D structure databases

ProteinModelPortaliO15239.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFA1 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG79354.
HOGENOMiHOG000010206.
HOVERGENiHBG000813.
InParanoidiO15239.
KOiK03945.
OMAiPWQWYLM.
OrthoDBiEOG7NGQFC.
PhylomeDBiO15239.
TreeFamiTF333394.

Family and domain databases

InterProiIPR017384. NADH_Ub_cplx-1_asu_su-1.
[Graphical view]
PANTHERiPTHR17098. PTHR17098. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81G → R in MT-C1D. 1 Publication
VAR_035099
Natural varianti32 – 321G → R.
Corresponds to variant rs1801316 [ dbSNP | Ensembl ].
VAR_014485
Natural varianti37 – 371R → S in MT-C1D. 1 Publication
VAR_035100
Natural varianti53 – 531R → C in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036173

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.
UCSCiuc004esc.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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

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

Protein-protein interaction databases

BioGridi 110774. 4 interactions.
IntActi O15239. 3 interactions.
MINTi MINT-1419020.
STRINGi 9606.ENSP00000360492.

Chemistry

ChEMBLi CHEMBL2363065.

PTM databases

PhosphoSitei O15239.

Proteomic databases

MaxQBi O15239.
PaxDbi O15239.
PeptideAtlasi O15239.
PRIDEi O15239.

Protocols and materials databases

DNASUi 4694.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371437 ; ENSP00000360492 ; ENSG00000125356 .
GeneIDi 4694.
KEGGi hsa:4694.
UCSCi uc004esc.4. human.

Organism-specific databases

CTDi 4694.
GeneCardsi GC0XP119005.
HGNCi HGNC:7683. NDUFA1.
HPAi HPA054359.
MIMi 252010. phenotype.
300078. gene.
neXtProti NX_O15239.
Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBi PA31489.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79354.
HOGENOMi HOG000010206.
HOVERGENi HBG000813.
InParanoidi O15239.
KOi K03945.
OMAi PWQWYLM.
OrthoDBi EOG7NGQFC.
PhylomeDBi O15239.
TreeFami TF333394.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi NDUFA1. human.
GeneWikii NADH_dehydrogenase_(ubiquinone),_alpha_1.
GenomeRNAii 4694.
NextBioi 18102.
PROi O15239.
SOURCEi Search...

Gene expression databases

Bgeei O15239.
CleanExi HS_NDUFA1.
ExpressionAtlasi O15239. baseline and differential.
Genevestigatori O15239.

Family and domain databases

InterProi IPR017384. NADH_Ub_cplx-1_asu_su-1.
[Graphical view ]
PANTHERi PTHR17098. PTHR17098. 1 hit.
PIRSFi PIRSF038095. NDUA1. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-53.
  7. Cited for: VARIANTS MT-C1D ARG-8 AND SER-37.

Entry informationi

Entry nameiNDUA1_HUMAN
AccessioniPrimary (citable) accession number: O15239
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: November 26, 2014
This is version 129 of the entry and version 1 of the sequence. [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

External Data

Dasty 3