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UniProtKB - Q8IW45 (NNRD_HUMAN)

Entry version 133 (11 Dec 2019)
Sequence version 1 (01 Mar 2003)
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Protein

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

Gene

NAXD

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 annotation1 Publication

Miscellaneous

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+UniRule annotation

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=8.62 µM for (6S)-NADHX1 Publication
  1. Vmax=8.77 µmol/min/mg enzyme with (6S)-NADHX as substrate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei153NAD(P)HX; via amide nitrogenUniRule annotation1
Binding sitei275NAD(P)HXUniRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi246 – 250ATPUniRule annotation5
Nucleotide bindingi265 – 274ATPUniRule annotation10

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000153481-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-197264 Nicotinamide salvaging

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-dependent (S)-NAD(P)H-hydrate dehydrataseUniRule annotation (EC:4.2.1.93UniRule annotation1 Publication)
Alternative name(s):
ATP-dependent NAD(P)HX dehydrataseUniRule annotation
Carbohydrate kinase domain-containing proteinUniRule annotation
NAD(P)HX dehydrataseImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NAXDImported
Synonyms:CARKDUniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000213995.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:25576 NAXD

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615910 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IW45

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08222481G → S in PEBEL2; decreased reaction kinetics for ATP-dependent NAD(P)H-hydrate dehydratase activity; decreased affinity for (6S)-NADHX; changed ATP-dependent NAD(P)H-hydrate dehydratase activity; thermostability assays show that activity is lost at temperatures above 30 degrees Celsius. 1 Publication1
Natural variantiVAR_082225326R → C in PEBEL2; decreased reaction kinetics for ATP-dependent NAD(P)H-hydrate dehydratase activity; decreased affinity for (6S)-NADHX; changed ATP-dependent NAD(P)H-hydrate dehydratase activity; thermostability assays show that activity is lost at temperatures above 30 degrees Celsius. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		55739

MalaCards human disease database

More...MalaCardsi		NAXD
MIMi618321 phenotype

Open Targets

More...OpenTargetsi		ENSG00000213995

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		555402 NAD(P)HX dehydratase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164717652

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IW45 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NAXD

Domain mapping of disease mutations (DMDM)

More...DMDMi		74728128

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003370211 – 347ATP-dependent (S)-NAD(P)H-hydrate dehydrataseAdd BLAST347

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei85PhosphotyrosineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi240N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8IW45

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8IW45

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IW45

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8IW45

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8IW45

PeptideAtlas

More...PeptideAtlasi		Q8IW45

PRoteomics IDEntifications database

More...PRIDEi		Q8IW45

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70807 [Q8IW45-1]
70808 [Q8IW45-2]
70809 [Q8IW45-3]
70810 [Q8IW45-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IW45

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8IW45

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000213995 Expressed in 224 organ(s), highest expression level in esophagogastric junction muscularis propria

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IW45 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IW45 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA010551

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120857, 38 interactors

Protein interaction database and analysis system

More...IntActi		Q8IW45, 27 interactors

Molecular INTeraction database

More...MINTi		Q8IW45

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000311984

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IW45 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8IW45

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini53 – 344YjeF C-terminalUniRule annotationAdd BLAST292

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni206 – 212NAD(P)HXUniRule annotation7

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NnrD/CARKD family.UniRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3974 Eukaryota
COG0063 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000000917

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000163126

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IW45

KEGG Orthology (KO)

More...KOi		K17757

Identification of Orthologs from Complete Genome Data

More...OMAi		KLIRAMS

Database of Orthologous Groups

More...OrthoDBi		865576at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IW45

TreeFam database of animal gene trees

More...TreeFami		TF300116

Family and domain databases

Conserved Domains Database

More...CDDi		cd01171 YXKO-related, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.1190.20, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_01965 NADHX_dehydratase, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000631 CARKD
IPR029056 Ribokinase-like

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01256 Carb_kinase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53613 SSF53613, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00196 yjeF_cterm, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51383 YJEF_C_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8IW45-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_08222481G → S in PEBEL2; decreased reaction kinetics for ATP-dependent NAD(P)H-hydrate dehydratase activity; decreased affinity for (6S)-NADHX; changed ATP-dependent NAD(P)H-hydrate dehydratase activity; thermostability assays show that activity is lost at temperatures above 30 degrees Celsius. 1 Publication1
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
Natural variantiVAR_082225326R → C in PEBEL2; decreased reaction kinetics for ATP-dependent NAD(P)H-hydrate dehydratase activity; decreased affinity for (6S)-NADHX; changed ATP-dependent NAD(P)H-hydrate dehydratase activity; thermostability assays show that activity is lost at temperatures above 30 degrees Celsius. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS55903.1 [Q8IW45-4]
CCDS9513.1 [Q8IW45-2]

NCBI Reference Sequences

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000309957; ENSP00000311984; ENSG00000213995 [Q8IW45-2]
ENST00000424185; ENSP00000413191; ENSG00000213995 [Q8IW45-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55739

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55739

UCSC genome browser

More...UCSCi		uc001vrc.4 human [Q8IW45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

SMRiQ8IW45
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120857, 38 interactors
IntActiQ8IW45, 27 interactors
MINTiQ8IW45
STRINGi9606.ENSP00000311984

PTM databases

iPTMnetiQ8IW45
PhosphoSitePlusiQ8IW45

Polymorphism and mutation databases

BioMutaiNAXD
DMDMi74728128

Proteomic databases

EPDiQ8IW45
jPOSTiQ8IW45
MassIVEiQ8IW45
MaxQBiQ8IW45
PaxDbiQ8IW45
PeptideAtlasiQ8IW45
PRIDEiQ8IW45
ProteomicsDBi70807 [Q8IW45-1]
70808 [Q8IW45-2]
70809 [Q8IW45-3]
70810 [Q8IW45-4]

Genome annotation databases

EnsembliENST00000309957; ENSP00000311984; ENSG00000213995 [Q8IW45-2]
ENST00000424185; ENSP00000413191; ENSG00000213995 [Q8IW45-4]
GeneIDi55739
KEGGihsa:55739
UCSCiuc001vrc.4 human [Q8IW45-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55739
DisGeNETi55739
EuPathDBiHostDB:ENSG00000213995.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		NAXD
HGNCiHGNC:25576 NAXD
HPAiHPA010551
MalaCardsiNAXD
MIMi615910 gene
618321 phenotype
neXtProtiNX_Q8IW45
OpenTargetsiENSG00000213995
Orphaneti555402 NAD(P)HX dehydratase deficiency
PharmGKBiPA164717652

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3974 Eukaryota
COG0063 LUCA
GeneTreeiENSGT00390000000917
HOGENOMiHOG000163126
InParanoidiQ8IW45
KOiK17757
OMAiKLIRAMS
OrthoDBi865576at2759
PhylomeDBiQ8IW45
TreeFamiTF300116

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NAXD human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CARKD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55739
PharosiQ8IW45 Tdark

Protein Ontology

More...PROi		PR:Q8IW45
RNActiQ8IW45 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000213995 Expressed in 224 organ(s), highest expression level in esophagogastric junction muscularis propria
ExpressionAtlasiQ8IW45 baseline and differential
GenevisibleiQ8IW45 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNNRD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IW45
Secondary accession number(s): B4DXT4
, Q5T9X3, Q9H7W1, Q9NVF5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: March 1, 2003
Last modified: December 11, 2019
This is version 133 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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