UniProtKB - Q8NCW5 (NNRE_HUMAN)
NAD(P)H-hydrate epimerase
NAXE
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 PublicationsCatalytic activityi
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 120 | PotassiumUniRule annotation | 1 | |
Metal bindingi | 185 | PotassiumUniRule annotation | 1 | |
Binding sitei | 218 | NADPHXUniRule annotation | 1 | |
Metal bindingi | 221 | PotassiumUniRule annotation | 1 |
GO - Molecular functioni
- identical protein binding Source: Ensembl
- metal ion binding Source: UniProtKB-KW
- NADHX epimerase activity Source: GO_Central
- NADPHX epimerase activity Source: UniProtKB-EC
- nucleotide binding Source: UniProtKB-KW
GO - Biological processi
- lipid transport Source: UniProtKB-KW
- membrane raft distribution Source: UniProtKB
- negative regulation of angiogenesis Source: UniProtKB
- nicotinamide nucleotide metabolic process Source: UniProtKB
- regulation of cholesterol efflux Source: UniProtKB
- sprouting angiogenesis Source: UniProtKB
Keywordsi
Molecular function | Isomerase |
Biological process | Lipid transport, Transport |
Ligand | Metal-binding, NAD, NADP, Nucleotide-binding, Potassium |
Enzyme and pathway databases
BRENDAi | 5.1.99.6, 2681 |
PathwayCommonsi | Q8NCW5 |
Reactomei | R-HSA-197264, Nicotinamide salvaging |
SignaLinki | Q8NCW5 |
Names & Taxonomyi
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 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18453, NAXE |
MIMi | 608862, gene |
neXtProti | NX_Q8NCW5 |
VEuPathDBi | HostDB:ENSG00000163382 |
Subcellular locationi
Mitochondrion
- Mitochondrion UniRule annotation
Extracellular region or secreted
- Secreted UniRule annotation1 Publication
Note: In sperm, secretion gradually increases during capacitation.UniRule annotation
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: UniProtKB
- extracellular space Source: BHF-UCL
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: GO_Central
Other locations
Keywords - Cellular componenti
Mitochondrion, SecretedPathology & Biotechi
Involvement in diseasei
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077991 | 94 | A → D in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs879255647EnsemblClinVar. | 1 | |
Natural variantiVAR_077992 | 218 | D → V in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs886041064EnsemblClinVar. | 1 | |
Natural variantiVAR_077993 | 270 | Missing in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs897694449Ensembl. | 1 |
Keywords - Diseasei
Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 128240 |
MalaCardsi | NAXE |
MIMi | 617186, phenotype |
OpenTargetsi | ENSG00000163382 |
Orphaneti | 555407, NAD(P)HX epimerase deficiency |
PharmGKBi | PA38538 |
Miscellaneous databases
Pharosi | Q8NCW5, Tbio |
Genetic variation databases
BioMutai | NAXE |
DMDMi | 150438841 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 47 | MitochondrionUniRule annotationAdd BLAST | 47 | |
ChainiPRO_5000067606 | 48 – 288 | NAD(P)H-hydrate epimeraseAdd BLAST | 241 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 49 | PhosphoserineBy similarity | 1 | |
Modified residuei | 144 | N6-succinyllysineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-25 CPTAC-26 |
EPDi | Q8NCW5 |
jPOSTi | Q8NCW5 |
MassIVEi | Q8NCW5 |
MaxQBi | Q8NCW5 |
PaxDbi | Q8NCW5 |
PeptideAtlasi | Q8NCW5 |
PRIDEi | Q8NCW5 |
ProteomicsDBi | 72958 [Q8NCW5-1] 72959 [Q8NCW5-2] |
TopDownProteomicsi | Q8NCW5-1 [Q8NCW5-1] Q8NCW5-2 [Q8NCW5-2] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00168479 |
PTM databases
GlyGeni | Q8NCW5, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NCW5 |
PhosphoSitePlusi | Q8NCW5 |
SwissPalmi | Q8NCW5 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000163382, Expressed in muscle tissue and 214 other tissues |
ExpressionAtlasi | Q8NCW5, baseline and differential |
Genevisiblei | Q8NCW5, HS |
Organism-specific databases
HPAi | ENSG00000163382, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer (By similarity).
Interacts with APOA1 and APOA2.
UniRule annotation2 PublicationsGO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 126103, 49 interactors |
IntActi | Q8NCW5, 5 interactors |
MINTi | Q8NCW5 |
STRINGi | 9606.ENSP00000357218 |
Miscellaneous databases
RNActi | Q8NCW5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 65 – 275 | YjeF N-terminalUniRule annotationAdd BLAST | 211 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 119 – 123 | NADPHXUniRule annotation | 5 | |
Regioni | 189 – 195 | NADPHXUniRule annotation | 7 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2585, Eukaryota |
GeneTreei | ENSGT00390000007227 |
HOGENOMi | CLU_024853_3_0_1 |
InParanoidi | Q8NCW5 |
OMAi | TIYYPKP |
OrthoDBi | 1030667at2759 |
PhylomeDBi | Q8NCW5 |
TreeFami | TF300197 |
Family and domain databases
Gene3Di | 3.40.50.10260, 1 hit |
HAMAPi | MF_01966, NADHX_epimerase, 1 hit |
InterProi | View protein in InterPro IPR004443, YjeF_N_dom IPR036652, YjeF_N_dom_sf IPR032976, YJEFN_prot_NAXE-like |
PANTHERi | PTHR13232, PTHR13232, 1 hit |
Pfami | View protein in Pfam PF03853, YjeF_N, 1 hit |
SUPFAMi | SSF64153, SSF64153, 1 hit |
TIGRFAMsi | TIGR00197, yjeF_nterm, 1 hit |
PROSITEi | View protein in PROSITE PS51385, YJEF_N, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A7P0Z426 | A0A7P0Z426_HUMAN | NAD(P)H-hydrate epimerase | NAXE AIBP, APOA1BP | 302 | Annotation score: | ||
Q5T3I3 | Q5T3I3_HUMAN | NAD(P)H-hydrate epimerase | NAXE | 260 | Annotation score: | ||
Q5T3I4 | Q5T3I4_HUMAN | NAD(P)H-hydrate epimerase | NAXE | 245 | Annotation score: | ||
A0A7P0T9Y2 | A0A7P0T9Y2_HUMAN | NAD(P)H-hydrate epimerase | NAXE | 224 | Annotation score: | ||
A0A7P0TAG8 | A0A7P0TAG8_HUMAN | NAD(P)H-hydrate epimerase | NAXE | 267 | Annotation score: | ||
A0A7P0TA18 | A0A7P0TA18_HUMAN | NAD(P)H-hydrate epimerase | NAXE | 187 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032992 | 19 | V → L2 PublicationsCorresponds to variant dbSNP:rs7516274Ensembl. | 1 | |
Natural variantiVAR_085045 | 43 – 288 | Missing Found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765587923Add BLAST | 246 | |
Natural variantiVAR_077991 | 94 | A → D in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs879255647EnsemblClinVar. | 1 | |
Natural variantiVAR_077992 | 218 | D → V in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs886041064EnsemblClinVar. | 1 | |
Natural variantiVAR_077993 | 270 | Missing in PEBEL1. 1 PublicationCorresponds to variant dbSNP:rs897694449Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026417 | 1 – 103 | Missing in isoform 2. 2 PublicationsAdd BLAST | 103 |
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 |
CCDSi | CCDS1145.1 [Q8NCW5-1] |
RefSeqi | NP_658985.2, NM_144772.2 [Q8NCW5-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS1145.1 [Q8NCW5-1] |
RefSeqi | NP_658985.2, NM_144772.2 [Q8NCW5-1] |
3D structure databases
AlphaFoldDBi | Q8NCW5 |
SMRi | Q8NCW5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126103, 49 interactors |
IntActi | Q8NCW5, 5 interactors |
MINTi | Q8NCW5 |
STRINGi | 9606.ENSP00000357218 |
PTM databases
GlyGeni | Q8NCW5, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NCW5 |
PhosphoSitePlusi | Q8NCW5 |
SwissPalmi | Q8NCW5 |
Genetic variation databases
BioMutai | NAXE |
DMDMi | 150438841 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00168479 |
Proteomic databases
CPTACi | CPTAC-25 CPTAC-26 |
EPDi | Q8NCW5 |
jPOSTi | Q8NCW5 |
MassIVEi | Q8NCW5 |
MaxQBi | Q8NCW5 |
PaxDbi | Q8NCW5 |
PeptideAtlasi | Q8NCW5 |
PRIDEi | Q8NCW5 |
ProteomicsDBi | 72958 [Q8NCW5-1] 72959 [Q8NCW5-2] |
TopDownProteomicsi | Q8NCW5-1 [Q8NCW5-1] Q8NCW5-2 [Q8NCW5-2] |
Protocols and materials databases
Antibodypediai | 34221, 217 antibodies from 29 providers |
DNASUi | 128240 |
Genome annotation databases
Organism-specific databases
CTDi | 128240 |
DisGeNETi | 128240 |
GeneCardsi | NAXE |
HGNCi | HGNC:18453, NAXE |
HPAi | ENSG00000163382, Low tissue specificity |
MalaCardsi | NAXE |
MIMi | 608862, gene 617186, phenotype |
neXtProti | NX_Q8NCW5 |
OpenTargetsi | ENSG00000163382 |
Orphaneti | 555407, NAD(P)HX epimerase deficiency |
PharmGKBi | PA38538 |
VEuPathDBi | HostDB:ENSG00000163382 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2585, Eukaryota |
GeneTreei | ENSGT00390000007227 |
HOGENOMi | CLU_024853_3_0_1 |
InParanoidi | Q8NCW5 |
OMAi | TIYYPKP |
OrthoDBi | 1030667at2759 |
PhylomeDBi | Q8NCW5 |
TreeFami | TF300197 |
Enzyme and pathway databases
BRENDAi | 5.1.99.6, 2681 |
PathwayCommonsi | Q8NCW5 |
Reactomei | R-HSA-197264, Nicotinamide salvaging |
SignaLinki | Q8NCW5 |
Miscellaneous databases
BioGRID-ORCSi | 128240, 7 hits in 1074 CRISPR screens |
ChiTaRSi | NAXE, human |
GenomeRNAii | 128240 |
Pharosi | Q8NCW5, Tbio |
PROi | PR:Q8NCW5 |
RNActi | Q8NCW5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163382, Expressed in muscle tissue and 214 other tissues |
ExpressionAtlasi | Q8NCW5, baseline and differential |
Genevisiblei | Q8NCW5, HS |
Family and domain databases
Gene3Di | 3.40.50.10260, 1 hit |
HAMAPi | MF_01966, NADHX_epimerase, 1 hit |
InterProi | View protein in InterPro IPR004443, YjeF_N_dom IPR036652, YjeF_N_dom_sf IPR032976, YJEFN_prot_NAXE-like |
PANTHERi | PTHR13232, PTHR13232, 1 hit |
Pfami | View protein in Pfam PF03853, YjeF_N, 1 hit |
SUPFAMi | SSF64153, SSF64153, 1 hit |
TIGRFAMsi | TIGR00197, yjeF_nterm, 1 hit |
PROSITEi | View protein in PROSITE PS51385, YJEF_N, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NNRE_HUMAN | |
Accessioni | Q8NCW5Primary (citable) accession number: Q8NCW5 Secondary accession number(s): B4DGY3, Q496C6, Q5T3I2 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families