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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-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.1 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+Note: Binds 1 potassium ion per subunit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi120Potassium1
Metal bindingi185Potassium1
Binding sitei218NAD(P)HX1
Metal bindingi221Potassium1

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 epimerase (EC:5.1.99.6)
Alternative name(s):
Apolipoprotein A-I-binding protein
Short name:
AI-BP
NAD(P)HX epimeraseImported
YjeF N-terminal domain-containing protein 1
Short name:
YjeF_N1
Gene namesi
Name:NAXEImported
Synonyms:AIBP, APOA1BP, YJEFN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163382.11.
HGNCiHGNC:18453. NAXE.

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 Publication1
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 – 47MitochondrionAdd 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.

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 APOA2.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126103. 19 interactors.
IntActiQ8NCW5. 2 interactors.
STRINGi9606.ENSP00000357218.

Structurei

3D structure databases

ProteinModelPortaliQ8NCW5.
SMRiQ8NCW5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni119 – 123NAD(P)HX5
Regioni189 – 195NAD(P)HX7

Sequence similaritiesi

Belongs to the NnrE/AIBP family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.50.10260. 1 hit.
HAMAPiMF_01966. NADHX_epimerase. 1 hit.
InterProiView protein in InterPro
IPR004443. YjeF_N_dom.
IPR036652. YjeF_N_dom_sf.
IPR032976. YJEFN_prot_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 Publication1
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. Translation: CAI13051.1.
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: October 25, 2017
This is version 128 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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families