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Protein

NAD(P)H-hydrate epimerase

Gene

NAXE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.UniRule annotation1 Publication

Catalytic activityi

(6R)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide = (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide.
(6R)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide phosphate = (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide phosphate.

Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi120PotassiumUniRule annotation1
Metal bindingi185PotassiumUniRule annotation1
Binding sitei218NAD(P)HXUniRule annotation1
Metal bindingi221PotassiumUniRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIsomerase
LigandMetal-binding, NAD, NADP, Nucleotide-binding, Potassium

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000163382-MONOMER
BRENDAi5.1.99.6 2681
ReactomeiR-HSA-197264 Nicotinamide salvaging

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
Name:NAXEImported
Synonyms:AIBPUniRule annotation, APOA1BP, YJEFN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163382.11
HGNCiHGNC:18453 NAXE
MIMi608862 gene
neXtProtiNX_Q8NCW5

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, Secreted

Pathology & Biotechi

Involvement in diseasei

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL)2 Publications
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.
See also OMIM:617186
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07799194A → D in PEBEL. 1 PublicationCorresponds to variant dbSNP:rs879255647Ensembl.1
Natural variantiVAR_077992218D → V in PEBEL. 1 PublicationCorresponds to variant dbSNP:rs886041064Ensembl.1
Natural variantiVAR_077993270Missing in PEBEL. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi128240
MalaCardsiNAXE
MIMi617186 phenotype
OpenTargetsiENSG00000163382
PharmGKBiPA38538

Polymorphism and mutation databases

BioMutaiAPOA1BP
DMDMi150438841

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 47MitochondrionUniRule annotationAdd BLAST47
ChainiPRO_500006760648 – 288NAD(P)H-hydrate epimeraseAdd BLAST241

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei49PhosphoserineBy similarity1
Modified residuei144N6-succinyllysineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NCW5
MaxQBiQ8NCW5
PaxDbiQ8NCW5
PeptideAtlasiQ8NCW5
PRIDEiQ8NCW5
TopDownProteomicsiQ8NCW5-1 [Q8NCW5-1]
Q8NCW5-2 [Q8NCW5-2]

2D gel databases

REPRODUCTION-2DPAGEiIPI00168479

PTM databases

iPTMnetiQ8NCW5
PhosphoSitePlusiQ8NCW5
SwissPalmiQ8NCW5

Expressioni

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

BgeeiENSG00000163382
CleanExiHS_APOA1BP
ExpressionAtlasiQ8NCW5 baseline and differential
GenevisibleiQ8NCW5 HS

Organism-specific databases

HPAiHPA043766
HPA048164

Interactioni

Subunit structurei

Homodimer (By similarity). Interacts with APOA1 and APOA2.UniRule annotation1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi12610319 interactors.
IntActiQ8NCW5 2 interactors.
MINTiQ8NCW5
STRINGi9606.ENSP00000357218

Structurei

3D structure databases

ProteinModelPortaliQ8NCW5
SMRiQ8NCW5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 275YjeF N-terminalUniRule annotationAdd BLAST211

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni119 – 123NAD(P)HXUniRule annotation5
Regioni189 – 195NAD(P)HXUniRule annotation7

Sequence similaritiesi

Belongs to the NnrE/AIBP family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2585 Eukaryota
COG0062 LUCA
GeneTreeiENSGT00390000007227
HOGENOMiHOG000174236
HOVERGENiHBG058276
InParanoidiQ8NCW5
KOiK17759
OMAiATQFTGR
OrthoDBiEOG091G0J79
PhylomeDBiQ8NCW5
TreeFamiTF300197

Family and domain databases

Gene3Di3.40.50.102601 hit
HAMAPiMF_01966 NADHX_epimerase, 1 hit
InterProiView protein in InterPro
IPR004443 YjeF_N_dom
IPR036652 YjeF_N_dom_sf
IPR032976 YJEFN_prot_eukaryotes
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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCW5-1) [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
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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03299219V → L2 PublicationsCorresponds to variant dbSNP:rs7516274Ensembl.1
Natural variantiVAR_07799194A → D in PEBEL. 1 PublicationCorresponds to variant dbSNP:rs879255647Ensembl.1
Natural variantiVAR_077992218D → V in PEBEL. 1 PublicationCorresponds to variant dbSNP:rs886041064Ensembl.1
Natural variantiVAR_077993270Missing in PEBEL. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0264171 – 103Missing in isoform 2. 2 PublicationsAdd BLAST103

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]
UniGeneiHs.528320

Genome annotation databases

EnsembliENST00000368235; ENSP00000357218; ENSG00000163382 [Q8NCW5-1]
GeneIDi128240
KEGGihsa:128240
UCSCiuc001fph.4 human [Q8NCW5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNNRE_HUMAN
AccessioniPrimary (citable) accession number: Q8NCW5
Secondary accession number(s): B4DGY3, Q496C6, Q5T3I2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 26, 2007
Last modified: February 28, 2018
This is version 131 of the entry and version 2 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