NAXE Gene (Protein Coding)

NAD(P)HX Epimerase

GC01P156591
GIFtS:
35
The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008] See more...

Aliases for NAXE Gene

Aliases for NAXE Gene

  • NAD(P)HX Epimerase 2 3 4 5
  • NAD(P)H-Hydrate Epimerase 2 3 4
  • YJEFN1 2 3 4
  • AIBP 2 3 4
  • YjeF N-Terminal Domain-Containing Protein 1 3 4
  • Apolipoprotein A-I-Binding Protein 3 4
  • ApoA-I Binding Protein 2 3
  • APOA1BP 3 4
  • YjeF_N1 3 4
  • AI-BP 3 4
  • Apolipoprotein A-I Binding Protein 2
  • EC 5.1.99.6 4
  • MGC119143 2
  • MGC119144 2
  • MGC119145 2
  • PEBEL 3
  • NAXE 5

External Ids for NAXE Gene

Previous HGNC Symbols for NAXE Gene

  • APOA1BP

Summaries for NAXE Gene

Entrez Gene Summary for NAXE Gene

  • The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]

GeneCards Summary for NAXE Gene

NAXE (NAD(P)HX Epimerase) is a Protein Coding gene. Diseases associated with NAXE include Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 and Brain Edema. Among its related pathways are NAD metabolism and Metabolism of water-soluble vitamins and cofactors. An important paralog of this gene is YJEFN3.

UniProtKB/Swiss-Prot Summary for NAXE Gene

  • 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).

Additional gene information for NAXE Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAXE Gene

Genomics for NAXE Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NAXE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAXE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAXE

Genomic Locations for NAXE Gene

Latest Assembly
chr1:156,591,756-156,609,507
(GRCh38/hg38)
Size:
17,752 bases
Orientation:
Plus strand

Previous Assembly
chr1:156,561,568-156,564,091
(GRCh37/hg19 by Entrez Gene)
Size:
2,524 bases
Orientation:
Plus strand

chr1:156,561,554-156,564,091
(GRCh37/hg19 by Ensembl)
Size:
2,538 bases
Orientation:
Plus strand

Genomic View for NAXE Gene

Genes around NAXE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAXE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAXE Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NAXE Gene

Proteins for NAXE Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NAXE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCW5-NNRE_HUMAN
    Recommended name:
    NAD(P)H-hydrate epimerase
    Protein Accession:
    Q8NCW5
    Secondary Accessions:
    • B4DGY3
    • Q496C6
    • Q5T3I2

    Protein attributes for NAXE Gene

    Size:
    288 amino acids
    Molecular mass:
    31675 Da
    Cofactor:
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Quaternary structure:
    • Homodimer (By similarity). Interacts with APOA1 and APOA2.

    Alternative splice isoforms for NAXE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAXE Gene

Post-translational modifications for NAXE Gene

  • Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.
  • Ubiquitination at Lys132
  • Modification sites at PhosphoSitePlus

Other Protein References for NAXE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NAXE Gene

Domains & Families for NAXE Gene

Gene Families for NAXE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for NAXE Gene

InterPro:
Blocks:
  • YjeF-related protein, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for NAXE Gene

GenScript: Design optimal peptide antigens:
  • YjeF N-terminal domain-containing protein 1 (AIBP_HUMAN)
  • APOA1BP protein (Q6PGN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NCW5

UniProtKB/Swiss-Prot:

NNRE_HUMAN :
  • Belongs to the NnrE/AIBP family.
Family:
  • Belongs to the NnrE/AIBP family.
genes like me logo Genes that share domains with NAXE: view

Function for NAXE Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for NAXE Gene

UniProtKB/Swiss-Prot 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. Accelerates cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis (PubMed:23719382).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6R)-NADHX = (6S)-NADHX; Xref=Rhea:RHEA:32215, ChEBI:CHEBI:64074, ChEBI:CHEBI:64075; EC=5.1.99.6;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6R)-NADPHX = (6S)-NADPHX; Xref=Rhea:RHEA:32227, ChEBI:CHEBI:64076, ChEBI:CHEBI:64077; EC=5.1.99.6;.

Enzyme Numbers (IUBMB) for NAXE Gene

Phenotypes From GWAS Catalog for NAXE Gene

Gene Ontology (GO) - Molecular Function for NAXE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 11991719
GO:0016853 isomerase activity IEA --
GO:0042802 identical protein binding IPI --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NAXE: view
genes like me logo Genes that share phenotypes with NAXE: view

Human Phenotype Ontology for NAXE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAXE Gene

MGI Knock Outs for NAXE:
  • Naxe Naxe<tm1.1Lfan>
  • Naxe Naxe<tm1b(EUCOMM)Hmgu>

miRNA for NAXE Gene

miRTarBase miRNAs that target NAXE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAXE

No data available for Transcription Factor Targets and HOMER Transcription for NAXE Gene

Localization for NAXE Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAXE Gene

Mitochondrion. Secreted. Note=In sperm, secretion gradually increases during capacitation. {ECO:0000255 HAMAP-Rule:MF_03159}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAXE gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NAXE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 11991719
GO:0005615 extracellular space ISS 22261194
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
GO:0005929 cilium IDA --
genes like me logo Genes that share ontologies with NAXE: view

Pathways & Interactions for NAXE Gene

genes like me logo Genes that share pathways with NAXE: view

Pathways by source for NAXE Gene

1 BioSystems pathway for NAXE Gene

Gene Ontology (GO) - Biological Process for NAXE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002040 sprouting angiogenesis IMP 23719382
GO:0006869 lipid transport IEA --
GO:0010874 regulation of cholesterol efflux IMP 23719382
GO:0016525 negative regulation of angiogenesis IMP 23719382
GO:0031580 membrane raft distribution IMP 23719382
genes like me logo Genes that share ontologies with NAXE: view

No data available for SIGNOR curated interactions for NAXE Gene

Drugs & Compounds for NAXE Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for NAXE Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for NAXE Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAXE

Alternative Splicing Database (ASD) splice patterns (SP) for NAXE Gene

No ASD Table

Relevant External Links for NAXE Gene

GeneLoc Exon Structure for
NAXE

Expression for NAXE Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAXE

mRNA Expression by UniProt/SwissProt for NAXE Gene:

Q8NCW5-NNRE_HUMAN
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).

Evidence on tissue expression from TISSUES for NAXE Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Muscle(2.7)
  • Kidney(2.5)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with NAXE: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAXE Gene

Orthologs for NAXE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAXE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia APOA1BP 30 31
  • 99.54 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia APOA1BP 30 31
  • 90.56 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Apoa1bp 30
  • 87.15 (n)
Dog
(Canis familiaris)
 Mammalia APOA1BP 30 31
  • 85.91 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Apoa1bp 30 31
  • 85.21 (n)
 OneToOne
Naxe 17
Oppossum
(Monodelphis domestica)
 Mammalia APOA1BP 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia APOA1BP 31
  • 60 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia APOA1BP 31
  • 66 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia apoa1bp 30
  • 70.27 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16801 30
Zebrafish
(Danio rerio)
 Actinopterygii apoa1bp 30 31
  • 65.8 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG2974 30 31
  • 61.65 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003324 30
  • 56.64 (n)
Worm
(Caenorhabditis elegans)
 Secernentea CELE_Y18D10A.3 30
  • 51.69 (n)
Y18D10A.3 31
  • 32 (a)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ABL161C 30
  • 51.17 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F20768g 30
  • 49.85 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YNL200C 30
  • 46.92 (n)
-- 31
  • 40 (a)
 OneToMany
NNR1 33
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons PPOX 30
  • 52.21 (n)
Rice
(Oryza sativa)
 Liliopsida Os10g0377800 30
  • 57.14 (n)
Os.16785 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08070 30
  • 52.85 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes mug182 30
  • 50.37 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.2106 30
Species where no ortholog for NAXE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NAXE Gene

ENSEMBL:
Gene Tree for NAXE (if available)
TreeFam:
Gene Tree for NAXE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAXE: view image

Paralogs for NAXE Gene

Paralogs for NAXE Gene

Pseudogenes.org Pseudogenes for NAXE Gene

genes like me logo Genes that share paralogs with NAXE: view

Variants for NAXE Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAXE Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
873152 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 156,593,456(+) G/A
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser) 		MISSENSE
rs1064796609 Pathogenic: not provided 156,592,622(+) CCAGTGTCAGA/ATCC
NM_144772.3(NAXE):c.468_478delinsATCCCTTTCCTTGGGG (p.Gln157fs) 		FRAMESHIFT
rs138816804 Benign: not provided 156,592,679(+) C/A
NM_144772.3(NAXE):c.516+9C>A 		INTRON
rs139093330 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 156,592,671(+) G/A
NM_144772.3(NAXE):c.516+1G>A 		SPLICE_DONOR
rs143449130 Benign: not provided 156,594,013(+) G/A
NM_144772.3(NAXE):c.796G>A (p.Ala266Thr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NAXE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NAXE Gene

Variant ID Type Subtype PubMed ID
nsv523181 CNV loss 19592680

Variation tolerance for NAXE Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAXE Gene

Human Gene Mutation Database (HGMD)
NAXE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAXE

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAXE Gene

Disorders for NAXE Gene

MalaCards: The human disease database

(4) MalaCards diseases for NAXE Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search NAXE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NNRE_HUMAN
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1) [MIM:617186]: An 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. {ECO:0000269 PubMed:27122014, ECO:0000269 PubMed:27616477}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NAXE

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NAXE: view

No data available for Genatlas for NAXE Gene

Publications for NAXE Gene

  1. Cloning and characterization of a novel apolipoprotein A-I binding protein, AI-BP, secreted by cells of the kidney proximal tubules in response to HDL or ApoA-I. (PMID: 11991719) Ritter M … Schmitz G (Genomics 2002) 2 3 4 23
  2. ApoA-I-binding protein (AI-BP) and its homologues hYjeF_N2 and hYjeF_N3 comprise the YjeF_N domain protein family in humans with a role in spermiogenesis and oogenesis. (PMID: 17533573) Rudolph C … Schmitz G (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2007) 2 3 23
  3. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. (PMID: 27616477) Kremer LS … Prokisch H (American journal of human genetics 2016) 3 4
  4. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. (PMID: 27122014) Spiegel R … Elpeleg O (Neurogenetics 2016) 3 4
  5. Control of angiogenesis by AIBP-mediated cholesterol efflux. (PMID: 23719382) Fang L … Miller YI (Nature 2013) 3 4

ExternalLinks

View latest publications for NAXE gene in Mastermind

Products for NAXE Gene

Sources for NAXE Gene