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O43678

- NDUA2_HUMAN

UniProt

O43678 - NDUA2_HUMAN

Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

Gene

NDUFA2

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 2
    Alternative name(s):
    Complex I-B8
    Short name:
    CI-B8
    NADH-ubiquinone oxidoreductase B8 subunit
    Gene namesi
    Name:NDUFA2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:7685. NDUFA2.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrial membrane Source: UniProtKB
    3. mitochondrial respiratory chain complex I Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBiPA31491.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 9998NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2PRO_0000118789Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Disulfide bondi24 ↔ 58Redox-active1 Publication
    Modified residuei64 – 641N6-acetyllysine; alternateBy similarity
    Modified residuei64 – 641N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation, Disulfide bond

    Proteomic databases

    MaxQBiO43678.
    PaxDbiO43678.
    PeptideAtlasiO43678.
    PRIDEiO43678.

    PTM databases

    PhosphoSiteiO43678.

    Expressioni

    Gene expression databases

    BgeeiO43678.
    CleanExiHS_NDUFA2.
    GenevestigatoriO43678.

    Organism-specific databases

    HPAiHPA035933.

    Interactioni

    Subunit structurei

    Complex I is composed of 45 different subunits.1 Publication

    Protein-protein interaction databases

    BioGridi110775. 45 interactions.
    IntActiO43678. 34 interactions.
    STRINGi9606.ENSP00000252102.

    Structurei

    Secondary structure

    1
    99
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi16 – 227
    Beta strandi25 – 273
    Helixi31 – 399
    Helixi41 – 477
    Beta strandi53 – 564
    Beta strandi60 – 623
    Beta strandi64 – 718
    Beta strandi74 – 785
    Helixi84 – 9714

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1S3ANMR-A1-99[»]
    ProteinModelPortaliO43678.
    SMRiO43678. Positions 15-99.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO43678.

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG252949.
    HOGENOMiHOG000201916.
    HOVERGENiHBG082012.
    InParanoidiO43678.
    KOiK03946.
    OMAiSAGTRQF.
    OrthoDBiEOG779P1D.
    PhylomeDBiO43678.
    TreeFamiTF300229.

    Family and domain databases

    Gene3Di3.40.30.10. 1 hit.
    InterProiIPR016464. NADH_Ub_cplx-1_asu_su-2.
    IPR007741. Ribosome/NADH_DH.
    IPR012336. Thioredoxin-like_fold.
    [Graphical view]
    PANTHERiPTHR12878. PTHR12878. 1 hit.
    PfamiPF05047. L51_S25_CI-B8. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005822. NDUA2. 1 hit.
    SMARTiSM00916. L51_S25_CI-B8. 1 hit.
    [Graphical view]
    SUPFAMiSSF52833. SSF52833. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43678-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAAAASRGV GAKLGLREIR IHLCQRSPGS QGVRDFIEKR YVELKKANPD   50
    LPILIRECSD VQPKLWARYA FGQETNVPLN NFSADQVTRA LENVLSGKA 99
    Length:99
    Mass (Da):10,922
    Last modified:January 23, 2007 - v3
    Checksum:iEF026F193CAF1DF7
    GO
    Isoform 2 (identifier: O43678-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         71-99: FGQETNVPLNNFSADQVTRALENVLSGKA → SRVQNS

    Show »
    Length:76
    Mass (Da):8,491
    Checksum:iE533D33E797CE167
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501D → N in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036174

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei71 – 9929FGQET…LSGKA → SRVQNS in isoform 2. 1 PublicationVSP_045479Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF047185 mRNA. Translation: AAC04270.1.
    AB054976 Genomic DNA. Translation: BAB21453.1.
    AF077029 mRNA. Translation: AAD27762.1.
    AV705564 mRNA. No translation available.
    CR457016 mRNA. Translation: CAG33297.1.
    AC116353 Genomic DNA. No translation available.
    BC003674 mRNA. Translation: AAH03674.1.
    CCDSiCCDS4234.1. [O43678-1]
    CCDS54911.1. [O43678-2]
    PIRiJC5824.
    RefSeqiNP_001171941.1. NM_001185012.1. [O43678-2]
    NP_002479.1. NM_002488.4. [O43678-1]
    UniGeneiHs.75914.

    Genome annotation databases

    EnsembliENST00000252102; ENSP00000252102; ENSG00000131495. [O43678-1]
    ENST00000512088; ENSP00000427220; ENSG00000131495. [O43678-2]
    GeneIDi4695.
    KEGGihsa:4695.
    UCSCiuc003lgp.3. human. [O43678-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF047185 mRNA. Translation: AAC04270.1 .
    AB054976 Genomic DNA. Translation: BAB21453.1 .
    AF077029 mRNA. Translation: AAD27762.1 .
    AV705564 mRNA. No translation available.
    CR457016 mRNA. Translation: CAG33297.1 .
    AC116353 Genomic DNA. No translation available.
    BC003674 mRNA. Translation: AAH03674.1 .
    CCDSi CCDS4234.1. [O43678-1 ]
    CCDS54911.1. [O43678-2 ]
    PIRi JC5824.
    RefSeqi NP_001171941.1. NM_001185012.1. [O43678-2 ]
    NP_002479.1. NM_002488.4. [O43678-1 ]
    UniGenei Hs.75914.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1S3A NMR - A 1-99 [» ]
    ProteinModelPortali O43678.
    SMRi O43678. Positions 15-99.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110775. 45 interactions.
    IntActi O43678. 34 interactions.
    STRINGi 9606.ENSP00000252102.

    Chemistry

    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei O43678.

    Proteomic databases

    MaxQBi O43678.
    PaxDbi O43678.
    PeptideAtlasi O43678.
    PRIDEi O43678.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252102 ; ENSP00000252102 ; ENSG00000131495 . [O43678-1 ]
    ENST00000512088 ; ENSP00000427220 ; ENSG00000131495 . [O43678-2 ]
    GeneIDi 4695.
    KEGGi hsa:4695.
    UCSCi uc003lgp.3. human. [O43678-1 ]

    Organism-specific databases

    CTDi 4695.
    GeneCardsi GC05M140005.
    HGNCi HGNC:7685. NDUFA2.
    HPAi HPA035933.
    MIMi 602137. gene.
    neXtProti NX_O43678.
    Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBi PA31491.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG252949.
    HOGENOMi HOG000201916.
    HOVERGENi HBG082012.
    InParanoidi O43678.
    KOi K03946.
    OMAi SAGTRQF.
    OrthoDBi EOG779P1D.
    PhylomeDBi O43678.
    TreeFami TF300229.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    EvolutionaryTracei O43678.
    GeneWikii NDUFA2.
    GenomeRNAii 4695.
    NextBioi 18106.
    PROi O43678.
    SOURCEi Search...

    Gene expression databases

    Bgeei O43678.
    CleanExi HS_NDUFA2.
    Genevestigatori O43678.

    Family and domain databases

    Gene3Di 3.40.30.10. 1 hit.
    InterProi IPR016464. NADH_Ub_cplx-1_asu_su-2.
    IPR007741. Ribosome/NADH_DH.
    IPR012336. Thioredoxin-like_fold.
    [Graphical view ]
    PANTHERi PTHR12878. PTHR12878. 1 hit.
    Pfami PF05047. L51_S25_CI-B8. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005822. NDUA2. 1 hit.
    SMARTi SM00916. L51_S25_CI-B8. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52833. SSF52833. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits."
      Ton C., Hwang D.M., Dempsey A.A., Liew C.-C.
      Biochem. Biophys. Res. Commun. 241:589-594(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart.
    2. Iida A., Kondo K., Kitamoto T., Kitamura Y., Mishima C., Osawa K., Nakamura Y.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Thymus.
    3. "ADBCGF02_ADB Homo sapiens cDNA clone ADBCGF02 5',mRNA sequence."
      Peng Y., Song H., Huang Q., Huang C., Gu Y., Yang Y., Gao G., Xiao H., Xu X., Li N., Qian B., Liu F., Qu J., Gao X., Cheng Z., Xu Z., Zeng L., Xu S.
      , Gu W., Tu Y., Jia J., Fu G., Ren S., Zhong M., Lu G., Hu R., Chen J., Chen Z., Han Z.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Adrenal gland.
    4. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Kidney.
    8. "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.
    9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "The oxidized subunit B8 from human complex I adopts a thioredoxin fold."
      Brockmann C., Diehl A., Rehbein K., Strauss H., Schmieder P., Korn B., Kuhne R., Oschkinat H.
      Structure 12:1645-1654(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR, DISULFIDE BOND.
    12. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-50.

    Entry informationi

    Entry nameiNDUA2_HUMAN
    AccessioniPrimary (citable) accession number: O43678
    Secondary accession number(s): D6RJD6, Q6IAY8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 136 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references

    External Data

    Dasty 3