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O15239

- NDUA1_HUMAN

UniProt

O15239 - NDUA1_HUMAN

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
  1. 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

    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

    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

    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

    ArrayExpressiO15239.
    BgeeiO15239.
    CleanExiHS_NDUFA1.
    GenevestigatoriO15239.

    Organism-specific databases

    HPAiHPA054359.

    Interactioni

    Subunit structurei

    Complex I is composed of 45 different subunits.1 Publication

    Protein-protein interaction databases

    BioGridi110774. 1 interaction.
    IntActiO15239. 3 interactions.
    MINTiMINT-1419020.
    STRINGi9606.ENSP00000360492.

    Structurei

    3D structure databases

    ProteinModelPortaliO15239.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    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

    MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER   50
    DRRISGVDRY YVSKGLENID 70
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 1 interaction.
    IntActi O15239. 3 interactions.
    MINTi MINT-1419020.
    STRINGi 9606.ENSP00000360492.

    Chemistry

    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    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

    ArrayExpressi O15239.
    Bgeei O15239.
    CleanExi HS_NDUFA1.
    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

    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: October 1, 2014
    This is version 127 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