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Protein

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

Gene

NAXD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.UniRule annotation

Miscellaneous

This protein may be expected to contain an N-terminal transit peptide but none has been predicted.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

Mg2+UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei153NAD(P)HX; via amide nitrogenUniRule annotation1
Binding sitei275NAD(P)HXUniRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi246 – 250ATPUniRule annotation5
Nucleotide bindingi265 – 274ATPUniRule annotation10

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionLyase
LigandATP-binding, NAD, NADP, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000153481-MONOMER
ReactomeiR-HSA-197264 Nicotinamide salvaging

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
NAD(P)HX dehydrataseImported
Gene namesi
Name:NAXDImported
Synonyms:CARKDUniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000213995.11
HGNCiHGNC:25576 NAXD
MIMi615910 gene
neXtProtiNX_Q8IW45

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi55739
OpenTargetsiENSG00000213995
PharmGKBiPA164717652

Polymorphism and mutation databases

BioMutaiCARKD
DMDMi74728128

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003370211 – 347ATP-dependent (S)-NAD(P)H-hydrate dehydrataseAdd BLAST347

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei85PhosphotyrosineBy similarity1
Glycosylationi240N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8IW45
MaxQBiQ8IW45
PaxDbiQ8IW45
PeptideAtlasiQ8IW45
PRIDEiQ8IW45
ProteomicsDBi70807
70808 [Q8IW45-2]
70809 [Q8IW45-3]
70810 [Q8IW45-4]

PTM databases

iPTMnetiQ8IW45
PhosphoSitePlusiQ8IW45

Expressioni

Gene expression databases

BgeeiENSG00000213995
CleanExiHS_CARKD
ExpressionAtlasiQ8IW45 baseline and differential
GenevisibleiQ8IW45 HS

Organism-specific databases

HPAiHPA010551

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120857, 38 interactors
IntActiQ8IW45, 16 interactors
MINTiQ8IW45
STRINGi9606.ENSP00000311984

Structurei

3D structure databases

ProteinModelPortaliQ8IW45
SMRiQ8IW45
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini53 – 344YjeF C-terminalUniRule annotationAdd BLAST292

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni206 – 212NAD(P)HXUniRule annotation7

Sequence similaritiesi

Belongs to the NnrD/CARKD family.UniRule annotation

Phylogenomic databases

eggNOGiKOG3974 Eukaryota
COG0063 LUCA
GeneTreeiENSGT00390000000917
HOGENOMiHOG000163126
HOVERGENiHBG103700
InParanoidiQ8IW45
KOiK17757
OMAiFASWARH
PhylomeDBiQ8IW45
TreeFamiTF300116

Family and domain databases

CDDicd01171 YXKO-related, 1 hit
Gene3Di3.40.1190.20, 1 hit
HAMAPiMF_01965 NADHX_dehydratase, 1 hit
InterProiView protein in InterPro
IPR000631 CARKD
IPR029056 Ribokinase-like
PfamiView protein in Pfam
PF01256 Carb_kinase, 1 hit
SUPFAMiSSF53613 SSF53613, 1 hit
TIGRFAMsiTIGR00196 yjeF_cterm, 1 hit
PROSITEiView protein in PROSITE
PS51383 YJEF_C_3, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MVTRAGAGTA VAGAVVVALL SAALALYGPP LDAVLERAFS LRKAHSIKDM
60 70 80 90 100
ENTLQLVRNI IPPLSSTKHK GQDGRIGVVG GCQEYTGAPY FAAISALKVG
110 120 130 140 150
ADLSHVFCAS AAAPVIKAYS PELIVHPVLD SPNAVHEVEK WLPRLHALVV
160 170 180 190 200
GPGLGRDDAL LRNVQGILEV SKARDIPVVI DADGLWLVAQ QPALIHGYRK
210 220 230 240 250
AVLTPNHVEF SRLYDAVLRG PMDSDDSHGS VLRLSQALGN VTVVQKGERD
260 270 280 290 300
ILSNGQQVLV CSQEGSSRRC GGQGDLLSGS LGVLVHWALL AGPQKTNGSS
310 320 330 340
PLLVAAFGAC SLTRQCNHQA FQKHGRSTTT SDMIAEVGAA FSKLFET
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)DescriptionActionsGraphical viewLength
Sequence conflicti206N → D in BAA91797 (PubMed:14702039).Curated1
Sequence conflicti253S → P in BAB14863 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043564140K → E. Corresponds to variant dbSNP:rs3742191Ensembl.1
Natural variantiVAR_043565149V → I. Corresponds to variant dbSNP:rs3742192Ensembl.1
Natural variantiVAR_043566152P → T. Corresponds to variant dbSNP:rs1044112Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0338291 – 221Missing in isoform 3. 1 PublicationAdd BLAST221
Alternative sequenceiVSP_0420121 – 129MVTRA…VHPVL → MLPDGPGSSLWGNPGLQTS in isoform 4. 1 PublicationAdd BLAST129
Alternative sequenceiVSP_033830299 – 347SSPLL…KLFET → GISDLKLTIWGPEIETGVKT RAQGSCGPRTTTPTSPHLLL SPSPQVQPSPGGRVWRLLSH QAVQPPSLPEARSLHHHLRH DRRGGGRLQQAL in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001631 mRNA Translation: BAA91797.1
AK024260 mRNA Translation: BAB14863.1
AK302117 mRNA Translation: BAG63496.1
AL139385 Genomic DNA No translation available.
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
UCSCiuc001vrc.4 human [Q8IW45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNNRD_HUMAN
AccessioniPrimary (citable) accession number: Q8IW45
Secondary accession number(s): B4DXT4
, Q5T9X3, Q9H7W1, Q9NVF5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: March 1, 2003
Last modified: July 18, 2018
This is version 120 of the entry and version 1 of the sequence. See 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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