Human Gene NAXE (ENST00000368235.8_4) from GENCODE V47lift37
  Description: NAD(P)HX epimerase (from RefSeq NM_144772.3)
Gencode Transcript: ENST00000368235.8_4
Gencode Gene: ENSG00000163382.13_9
Transcript (Including UTRs)
   Position: hg19 chr1:156,561,568-156,564,091 Size: 2,524 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr1:156,561,597-156,563,876 Size: 2,280 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:156,561,568-156,564,091)mRNA (may differ from genome)Protein (288 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NNRE_HUMAN
DESCRIPTION: RecName: Full=NAD(P)H-hydrate epimerase; EC=5.1.99.-; AltName: Full=Apolipoprotein A-I-binding protein; Short=AI-BP; AltName: Full=NAD(P)HX epimerase; AltName: Full=YjeF N-terminal domain-containing protein 1; Short=YjeF_N1; Flags: Precursor;
FUNCTION: 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 (By similarity).
CATALYTIC ACTIVITY: (R)-NADHX = (S)-NADHX.
COFACTOR: Binds 1 potassium ion per subunit (By similarity).
SUBUNIT: Homodimer (By similarity). Interacts with APOA1 and APOA2.
SUBCELLULAR LOCATION: Mitochondrion (By similarity). Secreted. Note=In sperm, secretion gradually increases during capacitation (By similarity).
TISSUE SPECIFICITY: 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).
PTM: Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation (By similarity).
SIMILARITY: Belongs to the nnrE/AIBP family.
SIMILARITY: Contains 1 YjeF N-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAXE
Diseases sorted by gene-association score: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy* (1231), brain edema (14)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.78 RPKM in Kidney - Cortex
Total median expression: 1175.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.4029-0.359 Picture PostScript Text
3' UTR -66.20215-0.308 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026600 - NnrE/AIBP
IPR004443 - YjeF_N_dom

Pfam Domains:
PF03853 - YjeF-related protein N-terminus

SCOP Domains:
64153 - YjeF N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q8NCW5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0016853 isomerase activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0052856 NADHX epimerase activity
GO:0052857 NADPHX epimerase activity

Biological Process:
GO:0006734 NADH metabolic process
GO:0006739 NADP metabolic process
GO:0034356 NAD biosynthesis via nicotinamide riboside salvage pathway
GO:0046496 nicotinamide nucleotide metabolic process
GO:0051289 protein homotetramerization

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0005929 cilium
GO:0043231 intracellular membrane-bounded organelle
GO:0044297 cell body
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF206161 - JP 2014500723-A/13664: Polycomb-Associated Non-Coding RNAs.
AK294835 - Homo sapiens cDNA FLJ56951 complete cds, highly similar to Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.
BC056917 - Homo sapiens apolipoprotein A-I binding protein, mRNA (cDNA clone MGC:65189 IMAGE:3873464), complete cds.
AK298222 - Homo sapiens cDNA FLJ56357 complete cds, highly similar to Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.
BC100931 - Homo sapiens apolipoprotein A-I binding protein, mRNA (cDNA clone MGC:119142 IMAGE:40003997), complete cds.
BC100932 - Homo sapiens apolipoprotein A-I binding protein, mRNA (cDNA clone MGC:119143 IMAGE:40003998), complete cds.
BC100933 - Homo sapiens apolipoprotein A-I binding protein, mRNA (cDNA clone MGC:119144 IMAGE:40003999), complete cds.
BC100934 - Homo sapiens apolipoprotein A-I binding protein, mRNA (cDNA clone MGC:119145 IMAGE:40004000), complete cds.
AJ315849 - Homo sapiens mRNA for apoA-I binding protein (AIBP gene).
AK316083 - Homo sapiens cDNA, FLJ78982 complete cds, moderately similar to Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.
KJ903743 - Synthetic construct Homo sapiens clone ccsbBroadEn_13137 APOA1BP gene, encodes complete protein.
AK123518 - Homo sapiens cDNA FLJ41524 fis, clone BRTHA2013515.
LF352073 - JP 2014500723-A/159576: Polycomb-Associated Non-Coding RNAs.
LF352070 - JP 2014500723-A/159573: Polycomb-Associated Non-Coding RNAs.
LF352069 - JP 2014500723-A/159572: Polycomb-Associated Non-Coding RNAs.
JD392174 - Sequence 373198 from Patent EP1572962.
JD089429 - Sequence 70453 from Patent EP1572962.
JD503359 - Sequence 484383 from Patent EP1572962.
JD039516 - Sequence 20540 from Patent EP1572962.
MA587650 - JP 2018138019-A/159576: Polycomb-Associated Non-Coding RNAs.
MA587647 - JP 2018138019-A/159573: Polycomb-Associated Non-Coding RNAs.
MA587646 - JP 2018138019-A/159572: Polycomb-Associated Non-Coding RNAs.
MA441738 - JP 2018138019-A/13664: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6938 - NADH repair

Reactome (by CSHL, EBI, and GO)

Protein Q8NCW5 (Reactome details) participates in the following event(s):

R-HSA-6806966 APOA1BP dimer epimerises R-NAD(P)HX to S-NAD(P)HX
R-HSA-197264 Nicotinamide salvaging
R-HSA-196807 Nicotinate metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AIBP , APOA1BP, B4DGY3, ENST00000368235.1, ENST00000368235.2, ENST00000368235.3, ENST00000368235.4, ENST00000368235.5, ENST00000368235.6, ENST00000368235.7, NAXE , NM_144772, NNRE_HUMAN, Q496C6, Q5T3I2, Q8NCW5, uc318gpf.1, uc318gpf.2, YJEFN1
UCSC ID: ENST00000368235.8_4
RefSeq Accession: NM_144772.3
Protein: Q8NCW5 (aka NNRE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.