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UniProtKB - Q8NCW5 (NNRE_HUMAN)

Entry version 154 (25 May 2022)
Sequence version 2 (26 Jun 2007)
Previous versions | rss
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Protein

NAD(P)H-hydrate epimerase

Gene

NAXE

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 epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX. Accelerates cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis (PubMed:23719382).

UniRule annotation2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

K+UniRule annotationNote: Binds 1 potassium ion per subunit.UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi120PotassiumUniRule annotation1
Metal bindingi185PotassiumUniRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei218NADPHXUniRule annotation1
Metal bindingi221PotassiumUniRule annotation1

<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 functionIsomerase
Biological processLipid transport, Transport
LigandMetal-binding, NAD, NADP, Nucleotide-binding, Potassium

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		5.1.99.6, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NCW5

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8NCW5

<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%5Fand%5Ftaxonomy%5Fsection">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:
NAD(P)H-hydrate epimeraseUniRule annotation (EC:5.1.99.6)
Alternative name(s):
Apolipoprotein A-I-binding proteinUniRule annotation
Short name:
AI-BPUniRule annotation
NAD(P)HX epimeraseImported
YjeF N-terminal domain-containing protein 1
Short name:
YjeF_N1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NAXEImported
Synonyms:AIBPUniRule annotation, APOA1BP, YJEFN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18453, NAXE

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608862, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NCW5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000163382

<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

Keywords - Cellular componenti

Mitochondrion, Secreted

<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 1 (PEBEL1)2 Publications
The disease is caused by variants 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_07799194A → D in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs879255647EnsemblClinVar.1
Natural variantiVAR_077992218D → V in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs886041064EnsemblClinVar.1
Natural variantiVAR_077993270Missing in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs897694449Ensembl.1

Keywords - Diseasei

Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		128240

MalaCards human disease database

More...MalaCardsi		NAXE
MIMi617186, phenotype

Open Targets

More...OpenTargetsi		ENSG00000163382

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

More...Orphaneti		555407, NAD(P)HX epimerase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38538

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NCW5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NAXE

Domain mapping of disease mutations (DMDM)

More...DMDMi		150438841

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 47MitochondrionUniRule annotationAdd BLAST47
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_500006760648 – 288NAD(P)H-hydrate epimeraseAdd BLAST241

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 residuei49PhosphoserineBy similarity1
Modified residuei144N6-succinyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.UniRule annotation

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-25
CPTAC-26

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NCW5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NCW5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NCW5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NCW5

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

More...PaxDbi		Q8NCW5

PeptideAtlas

More...PeptideAtlasi		Q8NCW5

PRoteomics IDEntifications database

More...PRIDEi		Q8NCW5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72958 [Q8NCW5-1]
72959 [Q8NCW5-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q8NCW5-1 [Q8NCW5-1]
Q8NCW5-2 [Q8NCW5-2]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00168479

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8NCW5, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NCW5

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

More...PhosphoSitePlusi		Q8NCW5

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8NCW5

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed, with highest levels in kidney, heart and liver. Present in cerebrospinal fluid and urine but not in serum from healthy patients. Present in serum of sepsis patients (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000163382, Expressed in muscle tissue and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NCW5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NCW5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000163382, Low tissue specificity

<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%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity).

Interacts with APOA1 and APOA2.

UniRule annotation2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126103, 49 interactors

Protein interaction database and analysis system

More...IntActi		Q8NCW5, 5 interactors

Molecular INTeraction database

More...MINTi		Q8NCW5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357218

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NCW5, 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q8NCW5

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

More...SMRi		Q8NCW5

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%5Fand%5Fdomains%5Fsection">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>Domaini65 – 275YjeF N-terminalUniRule annotationAdd BLAST211

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>Regioni119 – 123NADPHXUniRule annotation5
Regioni189 – 195NADPHXUniRule 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 NnrE/AIBP family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2585, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000007227

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_024853_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NCW5

Identification of Orthologs from Complete Genome Data

More...OMAi		TIYYPKP

Database of Orthologous Groups

More...OrthoDBi		1030667at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NCW5

TreeFam database of animal gene trees

More...TreeFami		TF300197

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.10260, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_01966, NADHX_epimerase, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004443, YjeF_N_dom
IPR036652, YjeF_N_dom_sf
IPR032976, YJEFN_prot_NAXE-like

The PANTHER Classification System

More...PANTHERi		PTHR13232, PTHR13232, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03853, YjeF_N, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF64153, SSF64153, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00197, yjeF_nterm, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51385, YJEF_N, 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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NCW5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MSRLRALLGL GLLVAGSRVP RIKSQTIACR SGPTWWGPQR LNSGGRWDSE 
        60         70         80         90        100
VMASTVVKYL SQEEAQAVDQ ELFNEYQFSV DQLMELAGLS CATAIAKAYP 
       110        120        130        140        150
PTSMSRSPPT VLVICGPGNN GGDGLVCARH LKLFGYEPTI YYPKRPNKPL 
       160        170        180        190        200
FTALVTQCQK MDIPFLGEMP AEPMTIDELY ELVVDAIFGF SFKGDVREPF 
       210        220        230        240        250
HSILSVLKGL TVPIASIDIP SGWDVEKGNA GGIQPDLLIS LTAPKKSATQ 
       260        270        280 
FTGRYHYLGG RFVPPALEKK YQLNLPPYPD TECVYRLQ
Length:288
Mass (Da):31,675
Last modified:June 26, 2007 - v2
<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:i1D8B04FEC595EA01
GO
Isoform 2 (identifier: Q8NCW5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.

Show »
Length:185
Mass (Da):20,431
Checksum:iB0E4FEB583B72308
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7P0Z426A0A7P0Z426_HUMAN
NAD(P)H-hydrate epimerase
NAXE AIBP, APOA1BP
302Annotation score:

Annotation score:4 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>
Q5T3I3Q5T3I3_HUMAN
NAD(P)H-hydrate epimerase
NAXE
260Annotation score:

Annotation score:1 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>
Q5T3I4Q5T3I4_HUMAN
NAD(P)H-hydrate epimerase
NAXE
245Annotation score:

Annotation score:1 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>
A0A7P0T9Y2A0A7P0T9Y2_HUMAN
NAD(P)H-hydrate epimerase
NAXE
224Annotation score:

Annotation score:1 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>
A0A7P0TAG8A0A7P0TAG8_HUMAN
NAD(P)H-hydrate epimerase
NAXE
267Annotation score:

Annotation score:1 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>
A0A7P0TA18A0A7P0TA18_HUMAN
NAD(P)H-hydrate epimerase
NAXE
187Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03299219V → L2 PublicationsCorresponds to variant dbSNP:rs7516274Ensembl.1
Natural variantiVAR_08504543 – 288Missing Found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765587923Add BLAST246
Natural variantiVAR_07799194A → D in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs879255647EnsemblClinVar.1
Natural variantiVAR_077992218D → V in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs886041064EnsemblClinVar.1
Natural variantiVAR_077993270Missing in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs897694449Ensembl.1

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_0264171 – 103Missing in isoform 2. 2 PublicationsAdd BLAST103

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
AJ315849 mRNA Translation: CAC86580.1
AK294835 mRNA Translation: BAG57944.1
AL365181 Genomic DNA No translation available.
BC100931 mRNA Translation: AAI00932.1
BC100932 mRNA Translation: AAI00933.1
BC100933 mRNA Translation: AAI00934.1
BC100934 mRNA Translation: AAI00935.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1145.1 [Q8NCW5-1]

NCBI Reference Sequences

More...RefSeqi		NP_658985.2, NM_144772.2 [Q8NCW5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000368235.8; ENSP00000357218.3; ENSG00000163382.13
ENST00000679702.1; ENSP00000505913.1; ENSG00000163382.13
ENST00000680004.1; ENSP00000506275.1; ENSG00000163382.13
ENST00000680269.1; ENSP00000505899.1; ENSG00000163382.13
ENST00000681054.1; ENSP00000506192.1; ENSG00000163382.13
ENST00000681523.1; ENSP00000505349.1; ENSG00000163382.13

Database of genes from NCBI RefSeq genomes

More...GeneIDi		128240

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:128240

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000368235.8; ENSP00000357218.3; NM_144772.3; NP_658985.2

UCSC genome browser

More...UCSCi		uc001fph.4, human [Q8NCW5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AJ315849 mRNA Translation: CAC86580.1
AK294835 mRNA Translation: BAG57944.1
AL365181 Genomic DNA No translation available.
BC100931 mRNA Translation: AAI00932.1
BC100932 mRNA Translation: AAI00933.1
BC100933 mRNA Translation: AAI00934.1
BC100934 mRNA Translation: AAI00935.1
CCDSiCCDS1145.1 [Q8NCW5-1]
RefSeqiNP_658985.2, NM_144772.2 [Q8NCW5-1]

3D structure databases

AlphaFoldDBiQ8NCW5
SMRiQ8NCW5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126103, 49 interactors
IntActiQ8NCW5, 5 interactors
MINTiQ8NCW5
STRINGi9606.ENSP00000357218

PTM databases

GlyGeniQ8NCW5, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ8NCW5
PhosphoSitePlusiQ8NCW5
SwissPalmiQ8NCW5

Genetic variation databases

BioMutaiNAXE
DMDMi150438841

2D gel databases

REPRODUCTION-2DPAGEiIPI00168479

Proteomic databases

CPTACiCPTAC-25
CPTAC-26
EPDiQ8NCW5
jPOSTiQ8NCW5
MassIVEiQ8NCW5
MaxQBiQ8NCW5
PaxDbiQ8NCW5
PeptideAtlasiQ8NCW5
PRIDEiQ8NCW5
ProteomicsDBi72958 [Q8NCW5-1]
72959 [Q8NCW5-2]
TopDownProteomicsiQ8NCW5-1 [Q8NCW5-1]
Q8NCW5-2 [Q8NCW5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34221, 217 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		128240

Genome annotation databases

EnsembliENST00000368235.8; ENSP00000357218.3; ENSG00000163382.13
ENST00000679702.1; ENSP00000505913.1; ENSG00000163382.13
ENST00000680004.1; ENSP00000506275.1; ENSG00000163382.13
ENST00000680269.1; ENSP00000505899.1; ENSG00000163382.13
ENST00000681054.1; ENSP00000506192.1; ENSG00000163382.13
ENST00000681523.1; ENSP00000505349.1; ENSG00000163382.13
GeneIDi128240
KEGGihsa:128240
MANE-SelectiENST00000368235.8; ENSP00000357218.3; NM_144772.3; NP_658985.2
UCSCiuc001fph.4, human [Q8NCW5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		128240
DisGeNETi128240

GeneCards: human genes, protein and diseases

More...GeneCardsi		NAXE
HGNCiHGNC:18453, NAXE
HPAiENSG00000163382, Low tissue specificity
MalaCardsiNAXE
MIMi608862, gene
617186, phenotype
neXtProtiNX_Q8NCW5
OpenTargetsiENSG00000163382
Orphaneti555407, NAD(P)HX epimerase deficiency
PharmGKBiPA38538
VEuPathDBiHostDB:ENSG00000163382

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2585, Eukaryota
GeneTreeiENSGT00390000007227
HOGENOMiCLU_024853_3_0_1
InParanoidiQ8NCW5
OMAiTIYYPKP
OrthoDBi1030667at2759
PhylomeDBiQ8NCW5
TreeFamiTF300197

Enzyme and pathway databases

BRENDAi5.1.99.6, 2681
PathwayCommonsiQ8NCW5
ReactomeiR-HSA-197264, Nicotinamide salvaging
SignaLinkiQ8NCW5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		128240, 7 hits in 1074 CRISPR screens

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

More...ChiTaRSi		NAXE, human

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

More...GenomeRNAii		128240
PharosiQ8NCW5, Tbio

Protein Ontology

More...PROi		PR:Q8NCW5
RNActiQ8NCW5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163382, Expressed in muscle tissue and 214 other tissues
ExpressionAtlasiQ8NCW5, baseline and differential
GenevisibleiQ8NCW5, HS

Family and domain databases

Gene3Di3.40.50.10260, 1 hit
HAMAPiMF_01966, NADHX_epimerase, 1 hit
InterProiView protein in InterPro
IPR004443, YjeF_N_dom
IPR036652, YjeF_N_dom_sf
IPR032976, YJEFN_prot_NAXE-like
PANTHERiPTHR13232, PTHR13232, 1 hit
PfamiView protein in Pfam
PF03853, YjeF_N, 1 hit
SUPFAMiSSF64153, SSF64153, 1 hit
TIGRFAMsiTIGR00197, yjeF_nterm, 1 hit
PROSITEiView protein in PROSITE
PS51385, YJEF_N, 1 hit

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 nameiNNRE_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: Q8NCW5
Secondary accession number(s): B4DGY3, Q496C6, Q5T3I2
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 26, 2007
Last modified: May 25, 2022
This is version 154 of the entry and version 2 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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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