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Q8IW45

- NNRD_HUMAN

UniProt

Q8IW45 - NNRD_HUMAN

Protein

ATP-dependent (S)-NAD(P)H-hydrate dehydratase

Gene

CARKD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.UniRule annotation

    Catalytic activityi

    ATP + (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide = ADP + phosphate + NADH.UniRule annotation
    ATP + (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide phosphate = ADP + phosphate + NADPH.

    Cofactori

    Magnesium.UniRule annotation

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei153 – 1531NAD(P)HX; via amide nitrogenUniRule annotation
    Binding sitei275 – 2751NAD(P)HXUniRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi246 – 2505ATPUniRule annotation
    Nucleotide bindingi265 – 27410ATPUniRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. ATP-dependent NAD(P)H-hydrate dehydratase activity Source: UniProtKB-HAMAP

    GO - Biological processi

    1. nicotinamide nucleotide metabolic process Source: UniProtKB-HAMAP

    Keywords - Molecular functioni

    Lyase

    Keywords - Ligandi

    ATP-binding, NAD, NADP, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000153481-MONOMER.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-dependent (S)-NAD(P)H-hydrate dehydrataseUniRule annotation (EC:4.2.1.93UniRule annotation)
    Alternative name(s):
    ATP-dependent NAD(P)HX dehydrataseUniRule annotation
    Carbohydrate kinase domain-containing proteinUniRule annotation
    Gene namesi
    Name:CARKDUniRule annotation
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:25576. CARKD.

    Subcellular locationi

    Mitochondrion UniRule annotation

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164717652.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 347ATP-dependent (S)-NAD(P)H-hydrate dehydratasePRO_0000337021
    Transit peptidei1 – ?MitochondrionUniRule annotation

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei85 – 851PhosphotyrosineBy similarity
    Glycosylationi240 – 2401N-linked (GlcNAc...)1 Publication
    Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ8IW45.
    PaxDbiQ8IW45.
    PRIDEiQ8IW45.

    PTM databases

    PhosphoSiteiQ8IW45.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IW45.
    BgeeiQ8IW45.
    CleanExiHS_CARKD.
    GenevestigatoriQ8IW45.

    Organism-specific databases

    HPAiHPA010551.

    Interactioni

    Protein-protein interaction databases

    BioGridi120857. 1 interaction.
    IntActiQ8IW45. 1 interaction.
    STRINGi9606.ENSP00000311984.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IW45.
    SMRiQ8IW45. Positions 56-279.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini53 – 344292YjeF C-terminalUniRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni206 – 2127NAD(P)HXUniRule annotation

    Sequence similaritiesi

    Belongs to the NnrD/CARKD family.UniRule annotation
    Contains 1 YjeF C-terminal domain.UniRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0063.
    HOGENOMiHOG000163126.
    HOVERGENiHBG103700.
    KOiK17757.
    OMAiSHQAVQP.
    OrthoDBiEOG76X60M.
    PhylomeDBiQ8IW45.
    TreeFamiTF300116.

    Family and domain databases

    Gene3Di3.40.1190.20. 1 hit.
    HAMAPiMF_01965. NADHX_dehydratase.
    InterProiIPR029056. Ribokinase-like.
    IPR000631. YjeF_C.
    [Graphical view]
    PfamiPF01256. Carb_kinase. 1 hit.
    [Graphical view]
    SUPFAMiSSF53613. SSF53613. 1 hit.
    TIGRFAMsiTIGR00196. yjeF_cterm. 1 hit.
    PROSITEiPS51383. YJEF_C_3. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IW45-1) [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

    MVTRAGAGTA VAGAVVVALL SAALALYGPP LDAVLERAFS LRKAHSIKDM    50
    ENTLQLVRNI IPPLSSTKHK GQDGRIGVVG GCQEYTGAPY FAAISALKVG 100
    ADLSHVFCAS AAAPVIKAYS PELIVHPVLD SPNAVHEVEK WLPRLHALVV 150
    GPGLGRDDAL LRNVQGILEV SKARDIPVVI DADGLWLVAQ QPALIHGYRK 200
    AVLTPNHVEF SRLYDAVLRG PMDSDDSHGS VLRLSQALGN VTVVQKGERD 250
    ILSNGQQVLV CSQEGSSRRC GGQGDLLSGS LGVLVHWALL AGPQKTNGSS 300
    PLLVAAFGAC SLTRQCNHQA FQKHGRSTTT SDMIAEVGAA FSKLFET 347
    Length:347
    Mass (Da):36,576
    Last modified:March 1, 2003 - v1
    Checksum:i70D42B97D6E8A41B
    GO
    Isoform 2 (identifier: Q8IW45-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         299-347: SSPLLVAAFG...GAAFSKLFET → GISDLKLTIW...RGGGRLQQAL

    Show »
    Length:390
    Mass (Da):41,360
    Checksum:i8A32124EA07160CE
    GO
    Isoform 3 (identifier: Q8IW45-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-221: Missing.

    Show »
    Length:126
    Mass (Da):13,188
    Checksum:i031B1043E9E8AEC9
    GO
    Isoform 4 (identifier: Q8IW45-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-129: MVTRAGAGTA...SPELIVHPVL → MLPDGPGSSLWGNPGLQTS

    Note: No experimental confirmation available.

    Show »
    Length:237
    Mass (Da):25,200
    Checksum:i2AED83A9CD769A97
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti206 – 2061N → D in BAA91797. (PubMed:14702039)Curated
    Sequence conflicti253 – 2531S → P in BAB14863. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti140 – 1401K → E.
    Corresponds to variant rs3742191 [ dbSNP | Ensembl ].
    VAR_043564
    Natural varianti149 – 1491V → I.
    Corresponds to variant rs3742192 [ dbSNP | Ensembl ].
    VAR_043565
    Natural varianti152 – 1521P → T.
    Corresponds to variant rs1044112 [ dbSNP | Ensembl ].
    VAR_043566

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 221221Missing in isoform 3. 1 PublicationVSP_033829Add
    BLAST
    Alternative sequencei1 – 129129MVTRA…VHPVL → MLPDGPGSSLWGNPGLQTS in isoform 4. 1 PublicationVSP_042012Add
    BLAST
    Alternative sequencei299 – 34749SSPLL…KLFET → GISDLKLTIWGPEIETGVKT RAQGSCGPRTTTPTSPHLLL SPSPQVQPSPGGRVWRLLSH QAVQPPSLPEARSLHHHLRH DRRGGGRLQQAL in isoform 2. 1 PublicationVSP_033830Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001631 mRNA. Translation: BAA91797.1.
    AK024260 mRNA. Translation: BAB14863.1.
    AK302117 mRNA. Translation: BAG63496.1.
    AL139385 Genomic DNA. Translation: CAI17008.1.
    CH471085 Genomic DNA. Translation: EAX09121.1.
    CH471085 Genomic DNA. Translation: EAX09125.1.
    BC041028 mRNA. Translation: AAH41028.1.
    CCDSiCCDS55903.1. [Q8IW45-4]
    CCDS9513.1. [Q8IW45-2]
    RefSeqiNP_001229810.1. NM_001242881.1. [Q8IW45-1]
    NP_001229811.1. NM_001242882.1.
    NP_001229812.1. NM_001242883.1. [Q8IW45-4]
    NP_060680.2. NM_018210.3. [Q8IW45-2]
    UniGeneiHs.408324.

    Genome annotation databases

    EnsembliENST00000309957; ENSP00000311984; ENSG00000213995. [Q8IW45-2]
    ENST00000424185; ENSP00000413191; ENSG00000213995. [Q8IW45-4]
    GeneIDi55739.
    KEGGihsa:55739.
    UCSCiuc001vrb.3. human. [Q8IW45-1]
    uc001vrc.3. human. [Q8IW45-2]
    uc010tjk.2. human. [Q8IW45-4]
    uc021rmn.1. human. [Q8IW45-3]

    Polymorphism databases

    DMDMi74728128.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001631 mRNA. Translation: BAA91797.1 .
    AK024260 mRNA. Translation: BAB14863.1 .
    AK302117 mRNA. Translation: BAG63496.1 .
    AL139385 Genomic DNA. Translation: CAI17008.1 .
    CH471085 Genomic DNA. Translation: EAX09121.1 .
    CH471085 Genomic DNA. Translation: EAX09125.1 .
    BC041028 mRNA. Translation: AAH41028.1 .
    CCDSi CCDS55903.1. [Q8IW45-4 ]
    CCDS9513.1. [Q8IW45-2 ]
    RefSeqi NP_001229810.1. NM_001242881.1. [Q8IW45-1 ]
    NP_001229811.1. NM_001242882.1.
    NP_001229812.1. NM_001242883.1. [Q8IW45-4 ]
    NP_060680.2. NM_018210.3. [Q8IW45-2 ]
    UniGenei Hs.408324.

    3D structure databases

    ProteinModelPortali Q8IW45.
    SMRi Q8IW45. Positions 56-279.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120857. 1 interaction.
    IntActi Q8IW45. 1 interaction.
    STRINGi 9606.ENSP00000311984.

    PTM databases

    PhosphoSitei Q8IW45.

    Polymorphism databases

    DMDMi 74728128.

    Proteomic databases

    MaxQBi Q8IW45.
    PaxDbi Q8IW45.
    PRIDEi Q8IW45.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000309957 ; ENSP00000311984 ; ENSG00000213995 . [Q8IW45-2 ]
    ENST00000424185 ; ENSP00000413191 ; ENSG00000213995 . [Q8IW45-4 ]
    GeneIDi 55739.
    KEGGi hsa:55739.
    UCSCi uc001vrb.3. human. [Q8IW45-1 ]
    uc001vrc.3. human. [Q8IW45-2 ]
    uc010tjk.2. human. [Q8IW45-4 ]
    uc021rmn.1. human. [Q8IW45-3 ]

    Organism-specific databases

    CTDi 55739.
    GeneCardsi GC13P111267.
    H-InvDB HIX0011456.
    HIX0011457.
    HIX0171873.
    HGNCi HGNC:25576. CARKD.
    HPAi HPA010551.
    neXtProti NX_Q8IW45.
    PharmGKBi PA164717652.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0063.
    HOGENOMi HOG000163126.
    HOVERGENi HBG103700.
    KOi K17757.
    OMAi SHQAVQP.
    OrthoDBi EOG76X60M.
    PhylomeDBi Q8IW45.
    TreeFami TF300116.

    Enzyme and pathway databases

    BioCyci MetaCyc:ENSG00000153481-MONOMER.

    Miscellaneous databases

    ChiTaRSi CARKD. human.
    GeneWikii CARKD.
    GenomeRNAii 55739.
    NextBioi 60690.
    PROi Q8IW45.

    Gene expression databases

    ArrayExpressi Q8IW45.
    Bgeei Q8IW45.
    CleanExi HS_CARKD.
    Genevestigatori Q8IW45.

    Family and domain databases

    Gene3Di 3.40.1190.20. 1 hit.
    HAMAPi MF_01965. NADHX_dehydratase.
    InterProi IPR029056. Ribokinase-like.
    IPR000631. YjeF_C.
    [Graphical view ]
    Pfami PF01256. Carb_kinase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53613. SSF53613. 1 hit.
    TIGRFAMsi TIGR00196. yjeF_cterm. 1 hit.
    PROSITEi PS51383. YJEF_C_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 2; 3 AND 4).
      Tissue: Testis.
    2. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 1).
      Tissue: Brain.
    5. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-240.
      Tissue: Liver.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNNRD_HUMAN
    AccessioniPrimary (citable) accession number: Q8IW45
    Secondary accession number(s): B4DXT4
    , Q5T9X3, Q9H7W1, Q9NVF5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 84 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 13
      Human chromosome 13: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3