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Q9UI09

- NDUAC_HUMAN

UniProt

Q9UI09 - NDUAC_HUMAN

Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

Gene

NDUFA12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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. electron carrier activity Source: InterPro
    2. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. respiratory electron transport chain Source: Reactome
    3. respiratory gaseous exchange Source: UniProtKB
    4. response to oxidative stress Source: UniProtKB
    5. 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 12
    Alternative name(s):
    13 kDa differentiation-associated protein
    Complex I-B17.2
    Short name:
    CI-B17.2
    Short name:
    CIB17.2
    NADH-ubiquinone oxidoreductase subunit B17.2
    Gene namesi
    Name:NDUFA12
    Synonyms:DAP13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:23987. NDUFA12.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. mitochondrial inner membrane Source: Reactome
    3. mitochondrial respiratory chain complex I Source: UniProtKB
    4. mitochondrion Source: HPA

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Leigh syndrome

    Organism-specific databases

    MIMi256000. phenotype.
    PharmGKBiPA142671269.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 145145NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12PRO_0000118845Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9UI09.
    PaxDbiQ9UI09.
    PRIDEiQ9UI09.

    PTM databases

    PhosphoSiteiQ9UI09.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UI09.
    BgeeiQ9UI09.
    CleanExiHS_NDUFA12.
    GenevestigatoriQ9UI09.

    Organism-specific databases

    HPAiHPA039903.

    Interactioni

    Subunit structurei

    Complex I is composed of 45 different subunits.1 Publication

    Protein-protein interaction databases

    BioGridi121013. 20 interactions.
    IntActiQ9UI09. 3 interactions.
    MINTiMINT-3080427.
    STRINGi9606.ENSP00000330737.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UI09.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the complex I NDUFA12 subunit family.Curated

    Phylogenomic databases

    eggNOGiNOG146832.
    HOVERGENiHBG024390.
    InParanoidiQ9UI09.
    KOiK11352.
    OMAiFYGRNRW.
    PhylomeDBiQ9UI09.
    TreeFamiTF106106.

    Family and domain databases

    InterProiIPR007763. NDUFA12.
    [Graphical view]
    PANTHERiPTHR12910. PTHR12910. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UI09-1) [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

    MELVQVLKRG LQQITGHGGL RGYLRVFFRT NDAKVGTLVG EDKYGNKYYE    50
    DNKQFFGRHR WVVYTTEMNG KNTFWDVDGS MVPPEWHRWL HSMTDDPPTT 100
    KPLTARKFIW TNHKFNVTGT PEQYVPYSTT RKKIQEWIPP STPYK 145
    Length:145
    Mass (Da):17,114
    Last modified:May 1, 2000 - v1
    Checksum:iC76C7F2F5974AFF9
    GO
    Isoform 2 (identifier: Q9UI09-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         58-145: RHRWVVYTTE...EWIPPSTPYK → IVGFTV

    Note: No experimental confirmation available. Gene prediction based on EST data.

    Show »
    Length:63
    Mass (Da):7,173
    Checksum:i8624DC4D6A0B0AA1
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti104 – 1041T → A.2 Publications
    Corresponds to variant rs17850017 [ dbSNP | Ensembl ].
    VAR_060682

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei58 – 14588RHRWV…STPYK → IVGFTV in isoform 2. CuratedVSP_046948Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF217092 mRNA. Translation: AAF91224.1.
    AF112208 mRNA. Translation: AAF17196.1.
    BT007220 mRNA. Translation: AAP35884.1.
    AC011598 Genomic DNA. No translation available.
    AC132009 Genomic DNA. No translation available.
    BC005936 mRNA. Translation: AAH05936.1.
    CCDSiCCDS58263.1. [Q9UI09-2]
    CCDS9050.1. [Q9UI09-1]
    RefSeqiNP_001245267.1. NM_001258338.1. [Q9UI09-2]
    NP_061326.1. NM_018838.4. [Q9UI09-1]
    UniGeneiHs.506374.

    Genome annotation databases

    EnsembliENST00000327772; ENSP00000330737; ENSG00000184752. [Q9UI09-1]
    ENST00000547986; ENSP00000450130; ENSG00000184752. [Q9UI09-2]
    GeneIDi55967.
    KEGGihsa:55967.
    UCSCiuc001tdl.4. human. [Q9UI09-1]

    Polymorphism databases

    DMDMi12229870.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF217092 mRNA. Translation: AAF91224.1 .
    AF112208 mRNA. Translation: AAF17196.1 .
    BT007220 mRNA. Translation: AAP35884.1 .
    AC011598 Genomic DNA. No translation available.
    AC132009 Genomic DNA. No translation available.
    BC005936 mRNA. Translation: AAH05936.1 .
    CCDSi CCDS58263.1. [Q9UI09-2 ]
    CCDS9050.1. [Q9UI09-1 ]
    RefSeqi NP_001245267.1. NM_001258338.1. [Q9UI09-2 ]
    NP_061326.1. NM_018838.4. [Q9UI09-1 ]
    UniGenei Hs.506374.

    3D structure databases

    ProteinModelPortali Q9UI09.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121013. 20 interactions.
    IntActi Q9UI09. 3 interactions.
    MINTi MINT-3080427.
    STRINGi 9606.ENSP00000330737.

    Chemistry

    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei Q9UI09.

    Polymorphism databases

    DMDMi 12229870.

    Proteomic databases

    MaxQBi Q9UI09.
    PaxDbi Q9UI09.
    PRIDEi Q9UI09.

    Protocols and materials databases

    DNASUi 55967.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327772 ; ENSP00000330737 ; ENSG00000184752 . [Q9UI09-1 ]
    ENST00000547986 ; ENSP00000450130 ; ENSG00000184752 . [Q9UI09-2 ]
    GeneIDi 55967.
    KEGGi hsa:55967.
    UCSCi uc001tdl.4. human. [Q9UI09-1 ]

    Organism-specific databases

    CTDi 55967.
    GeneCardsi GC12M095291.
    HGNCi HGNC:23987. NDUFA12.
    HPAi HPA039903.
    MIMi 256000. phenotype.
    614530. gene.
    neXtProti NX_Q9UI09.
    PharmGKBi PA142671269.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG146832.
    HOVERGENi HBG024390.
    InParanoidi Q9UI09.
    KOi K11352.
    OMAi FYGRNRW.
    PhylomeDBi Q9UI09.
    TreeFami TF106106.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    ChiTaRSi NDUFA12. human.
    GenomeRNAii 55967.
    NextBioi 61385.
    PROi Q9UI09.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UI09.
    Bgeei Q9UI09.
    CleanExi HS_NDUFA12.
    Genevestigatori Q9UI09.

    Family and domain databases

    InterProi IPR007763. NDUFA12.
    [Graphical view ]
    PANTHERi PTHR12910. PTHR12910. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients."
      Triepels R., Smeitink J., Loeffen J., Smeets R., Trijbels F., van den Heuvel L.
      Hum. Genet. 106:385-391(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Adrenal gland.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-104.
    4. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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], VARIANT ALA-104.
      Tissue: Kidney.
    6. "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.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome."
      Ostergaard E., Rodenburg R.J., van den Brand M., Thomsen L.L., Duno M., Batbayli M., Wibrand F., Nijtmans L.
      J. Med. Genet. 48:737-740(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN LS.
    9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNDUAC_HUMAN
    AccessioniPrimary (citable) accession number: Q9UI09
    Secondary accession number(s): F8VQS7, Q53XX0, Q9BRV6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 122 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 12
      Human chromosome 12: 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