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Q8IW45

- NNRD_HUMAN

UniProt

Q8IW45 - NNRD_HUMAN

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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

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 By similarity.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 By similarity.UniRule annotation

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei153 – 1531NAD(P)HX; via amide nitrogen By similarity
Binding sitei275 – 2751NAD(P)HX By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi246 – 2505ATP By similarity
Nucleotide bindingi265 – 27410ATP By similarity

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
Complete GO annotation...

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 dehydratase (EC:4.2.1.93)
Alternative name(s):
ATP-dependent NAD(P)HX dehydratase
Carbohydrate kinase domain-containing protein
Gene namesi
Name:CARKD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:25576. CARKD.

Subcellular locationi

Mitochondrion By similarity UniRule annotation

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

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 dehydrataseUniRule annotationPRO_0000337021
Transit peptidei1 – ?Mitochondrion Reviewed prediction

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei85 – 851Phosphotyrosine By similarity
Glycosylationi240 – 2401N-linked (GlcNAc...)1 Publication
Glycosylationi297 – 2971N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni206 – 2127NAD(P)HX By similarity

Sequence similaritiesi

Belongs to the NnrD/CARKD family.

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

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. VSP_033829Add
BLAST
Alternative sequencei1 – 129129MVTRA…VHPVL → MLPDGPGSSLWGNPGLQTS in isoform 4. VSP_042012Add
BLAST
Alternative sequencei299 – 34749SSPLL…KLFET → GISDLKLTIWGPEIETGVKT RAQGSCGPRTTTPTSPHLLL SPSPQVQPSPGGRVWRLLSH QAVQPPSLPEARSLHHHLRH DRRGGGRLQQAL in isoform 2. VSP_033830Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti206 – 2061N → D in BAA91797. 1 Publication
Sequence conflicti253 – 2531S → P in BAB14863. 1 Publication

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: July 9, 2014
This is version 83 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

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