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Q9BQG2

- NUD12_HUMAN

UniProt

Q9BQG2 - NUD12_HUMAN

Protein

Peroxisomal NADH pyrophosphatase NUDT12

Gene

NUDT12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)+, ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle.1 Publication

    Catalytic activityi

    NAD+ + H2O = AMP + NMN.1 Publication

    Cofactori

    Magnesium or manganese.By similarity

    Kineticsi

    1. KM=11 µM for NADH1 Publication
    2. KM=16 µM for NADPH1 Publication
    3. KM=190 µM for NAD1 Publication

    pH dependencei

    Optimum pH is 8-9.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi370 – 3701Magnesium or manganeseBy similarity
    Metal bindingi374 – 3741Magnesium or manganeseBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. NAD+ diphosphatase activity Source: UniProtKB
    3. NADH pyrophosphatase activity Source: UniProtKB

    GO - Biological processi

    1. NAD catabolic process Source: UniProtKB
    2. NADP catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    Magnesium, Manganese, Metal-binding, NAD, NADP

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peroxisomal NADH pyrophosphatase NUDT12 (EC:3.6.1.22)
    Alternative name(s):
    Nucleoside diphosphate-linked moiety X motif 12
    Short name:
    Nudix motif 12
    Gene namesi
    Name:NUDT12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:18826. NUDT12.

    Subcellular locationi

    Peroxisome 1 Publication

    GO - Cellular componenti

    1. nucleus Source: LIFEdb
    2. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Peroxisome

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi460 – 4623Missing: Abolishes localization to peroxisomes. 1 Publication

    Organism-specific databases

    PharmGKBiPA38699.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 462462Peroxisomal NADH pyrophosphatase NUDT12PRO_0000056956Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei185 – 1851N6-succinyllysineBy similarity
    Modified residuei292 – 2921N6-succinyllysineBy similarity

    Proteomic databases

    MaxQBiQ9BQG2.
    PaxDbiQ9BQG2.
    PRIDEiQ9BQG2.

    PTM databases

    PhosphoSiteiQ9BQG2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BQG2.
    BgeeiQ9BQG2.
    CleanExiHS_NUDT12.
    GenevestigatoriQ9BQG2.

    Organism-specific databases

    HPAiHPA045449.

    Interactioni

    Protein-protein interaction databases

    MINTiMINT-3060539.
    STRINGi9606.ENSP00000230792.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BQG2.
    SMRiQ9BQG2. Positions 9-134, 206-453.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati11 – 4030ANK 1Add
    BLAST
    Repeati45 – 7430ANK 2Add
    BLAST
    Repeati78 – 9821ANK 3Add
    BLAST
    Domaini319 – 453135Nudix hydrolasePROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi355 – 37622Nudix boxAdd
    BLAST
    Motifi460 – 4623Microbody targeting signalCurated

    Sequence similaritiesi

    Belongs to the Nudix hydrolase family. NudC subfamily.Curated
    Contains 3 ANK repeats.PROSITE-ProRule annotation
    Contains 1 nudix hydrolase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG2816.
    HOGENOMiHOG000247937.
    HOVERGENiHBG054394.
    InParanoidiQ9BQG2.
    KOiK03426.
    OMAiQPEVRLC.
    OrthoDBiEOG7N0C55.
    PhylomeDBiQ9BQG2.
    TreeFamiTF106352.

    Family and domain databases

    Gene3Di1.25.40.20. 1 hit.
    3.90.79.10. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR015375. NADH_PPase-like_N.
    IPR020084. NUDIX_hydrolase_CS.
    IPR000086. NUDIX_hydrolase_dom.
    IPR015797. NUDIX_hydrolase_dom-like.
    IPR015376. Znr_NADH_PPase.
    [Graphical view]
    PfamiPF12796. Ank_2. 1 hit.
    PF00293. NUDIX. 1 hit.
    PF09296. NUDIX-like. 1 hit.
    PF09297. zf-NADH-PPase. 1 hit.
    [Graphical view]
    SMARTiSM00248. ANK. 3 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    SSF55811. SSF55811. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 1 hit.
    PS51462. NUDIX. 1 hit.
    PS00893. NUDIX_BOX. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9BQG2-1 [UniParc]FASTAAdd to Basket

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    MSSVKRSLKQ EIVTQFHCSA AEGDIAKLTG ILSHSPSLLN ETSENGWTAL    50
    MYAARNGHPE IVQFLLEKGC DRSIVNKSRQ TALDIAVFWG YKHIANLLAT 100
    AKGGKKPWFL TNEVEECENY FSKTLLDRKS EKRNNSDWLL AKESHPATVF 150
    ILFSDLNPLV TLGGNKESFQ QPEVRLCQLN YTDIKDYLAQ PEKITLIFLG 200
    VELEIKDKLL NYAGEVPREE EDGLVAWFAL GIDPIAAEEF KQRHENCYFL 250
    HPPMPALLQL KEKEAGVVAQ ARSVLAWHSR YKFCPTCGNA TKIEEGGYKR 300
    LCLKEDCPSL NGVHNTSYPR VDPVVIMQVI HPDGTKCLLG RQKRFPPGMF 350
    TCLAGFIEPG ETIEDAVRRE VEEESGVKVG HVQYVACQPW PMPSSLMIGC 400
    LALAVSTEIK VDKNEIEDAR WFTREQVLDV LTKGKQQAFF VPPSRAIAHQ 450
    LIKHWIRINP NL 462
    Length:462
    Mass (Da):52,076
    Last modified:June 1, 2001 - v1
    Checksum:i1A470B93707DB1D5
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti129 – 1291K → E.
    Corresponds to variant rs35903418 [ dbSNP | Ensembl ].
    VAR_034157
    Natural varianti235 – 2351I → V.
    Corresponds to variant rs34468716 [ dbSNP | Ensembl ].
    VAR_034158

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136592 mRNA. Translation: CAB66527.1.
    AK098066 mRNA. Translation: BAG53574.1.
    CH471086 Genomic DNA. Translation: EAW49073.1.
    BC026748 mRNA. Translation: AAH26748.1.
    BC041099 mRNA. Translation: AAH41099.1.
    CCDSiCCDS4096.1.
    RefSeqiNP_113626.1. NM_031438.2.
    XP_005272152.1. XM_005272095.1.
    UniGeneiHs.434289.

    Genome annotation databases

    EnsembliENST00000230792; ENSP00000230792; ENSG00000112874.
    GeneIDi83594.
    KEGGihsa:83594.
    UCSCiuc003koi.3. human.

    Polymorphism databases

    DMDMi68565930.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136592 mRNA. Translation: CAB66527.1 .
    AK098066 mRNA. Translation: BAG53574.1 .
    CH471086 Genomic DNA. Translation: EAW49073.1 .
    BC026748 mRNA. Translation: AAH26748.1 .
    BC041099 mRNA. Translation: AAH41099.1 .
    CCDSi CCDS4096.1.
    RefSeqi NP_113626.1. NM_031438.2.
    XP_005272152.1. XM_005272095.1.
    UniGenei Hs.434289.

    3D structure databases

    ProteinModelPortali Q9BQG2.
    SMRi Q9BQG2. Positions 9-134, 206-453.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-3060539.
    STRINGi 9606.ENSP00000230792.

    PTM databases

    PhosphoSitei Q9BQG2.

    Polymorphism databases

    DMDMi 68565930.

    Proteomic databases

    MaxQBi Q9BQG2.
    PaxDbi Q9BQG2.
    PRIDEi Q9BQG2.

    Protocols and materials databases

    DNASUi 83594.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000230792 ; ENSP00000230792 ; ENSG00000112874 .
    GeneIDi 83594.
    KEGGi hsa:83594.
    UCSCi uc003koi.3. human.

    Organism-specific databases

    CTDi 83594.
    GeneCardsi GC05M102912.
    HGNCi HGNC:18826. NUDT12.
    HPAi HPA045449.
    MIMi 609232. gene.
    neXtProti NX_Q9BQG2.
    PharmGKBi PA38699.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2816.
    HOGENOMi HOG000247937.
    HOVERGENi HBG054394.
    InParanoidi Q9BQG2.
    KOi K03426.
    OMAi QPEVRLC.
    OrthoDBi EOG7N0C55.
    PhylomeDBi Q9BQG2.
    TreeFami TF106352.

    Miscellaneous databases

    GeneWikii NUDT12.
    GenomeRNAii 83594.
    NextBioi 72525.
    PROi Q9BQG2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BQG2.
    Bgeei Q9BQG2.
    CleanExi HS_NUDT12.
    Genevestigatori Q9BQG2.

    Family and domain databases

    Gene3Di 1.25.40.20. 1 hit.
    3.90.79.10. 1 hit.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR015375. NADH_PPase-like_N.
    IPR020084. NUDIX_hydrolase_CS.
    IPR000086. NUDIX_hydrolase_dom.
    IPR015797. NUDIX_hydrolase_dom-like.
    IPR015376. Znr_NADH_PPase.
    [Graphical view ]
    Pfami PF12796. Ank_2. 1 hit.
    PF00293. NUDIX. 1 hit.
    PF09296. NUDIX-like. 1 hit.
    PF09297. zf-NADH-PPase. 1 hit.
    [Graphical view ]
    SMARTi SM00248. ANK. 3 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    SSF55811. SSF55811. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 1 hit.
    PS51462. NUDIX. 1 hit.
    PS00893. NUDIX_BOX. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Amygdala.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Trachea.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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 and Ovary.
    5. "Mammalian NADH diphosphatases of the Nudix family: cloning and characterization of the human peroxisomal NUDT12 protein."
      Abdelraheim S.R., Spiller D.G., McLennan A.G.
      Biochem. J. 374:329-335(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, ENZYME ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, MUTAGENESIS OF 460-PRO--LEU-462.

    Entry informationi

    Entry nameiNUD12_HUMAN
    AccessioniPrimary (citable) accession number: Q9BQG2
    Secondary accession number(s): B3KUW2, Q8TAL7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 115 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 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3