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Aliases for NAXE Gene

Aliases for NAXE Gene

  • NAD(P)HX Epimerase 2 3 4 5
  • NAD(P)H-Hydrate Epimerase 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
  • YjeF_N1 3 4
  • APOA1BP 3 4
  • YJEFN1 3 4
  • AI-BP 3 4
  • AIBP 3 4
  • Apolipoprotein A-I Binding Protein 2
  • EC 5.1.99.6 4
  • PEBEL 3

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 and Brain Edema. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and NAD metabolism. An important paralog of this gene is YJEFN3.

UniProtKB/Swiss-Prot 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.

Additional gene information for NAXE Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAXE Gene

Genomics for NAXE Gene

GeneHancer (GH) Regulatory Elements for NAXE Gene

Promoters and enhancers for NAXE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J156590 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 614.3 +0.0 48 2.4 SP1 ZFX NKRF POLR2A ZNF121 GTF2F1 ZNF687 ZSCAN21 MAFK SP7 NAXE GON4L KHDC4 BGLAP ENSG00000237842 GPATCH4 RRNAD1 LMNA
GH01J156589 Enhancer 0.3 Ensembl 611.8 -2.0 -1962 0.4 IKZF1 NAXE TTC24
GH01J156569 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 19.6 -20.2 -20217 3.3 ZNF652 SIX5 NKRF ZNF384 MAFK ZBTB7A SP7 ELF1 CREM CREB1 IQGAP3 NAXE MEF2D BCAN CCT3 TSACC GPATCH4 TTC24 GC01P156524
GH01J156624 Promoter/Enhancer 1.4 Ensembl ENCODE 23.5 +32.9 32878 1.3 HDGF ZNF148 ZSCAN21 CTCF NCOA6 MTA1 GLIS2 GMEB1 IKZF1 RNF2 NAXE RRNAD1 ENSG00000223356 C1orf61 MIR9-1 ISG20L2 LOC101928177 HAPLN2 ENSG00000272068
GH01J156486 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -92.9 -92898 25.4 SP1 ZFX CC2D1A MNT CBFA2T2 ZNF148 NKRF POLR2A MLLT1 ZNF121 MEF2D GON4L RRNAD1 KHDC4 ENSG00000271267 ENSG00000237842 MSTO2P MSTO1 ISG20L2 ENSG00000246203
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for NAXE Gene

Genomic Locations for NAXE Gene
chr1:156,591,762-156,594,299
(GRCh38/hg38)
Size:
2,538 bases
Orientation:
Plus strand
chr1:156,561,554-156,564,091
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for NAXE Gene

Proteins for NAXE Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAXE Gene

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

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

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.
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:0042803 protein homodimerization activity IEA --
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>

Animal Model Products

CRISPR Products

miRNA for NAXE Gene

miRTarBase miRNAs that target NAXE

Clone Products

  • Applied Biological Materials (abm): Clones for NAXE - Now 50% OFF >
  • * NAXE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NAXE tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 4
cytosol 4
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
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,IEA 22261194
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
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

Gene Ontology (GO) - Biological Process for NAXE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034356 NAD biosynthesis via nicotinamide riboside salvage pathway TAS --
GO:0046496 nicotinamide nucleotide metabolic process IMP 27616477
GO:0051289 protein homotetramerization IEA --
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

No Compound Related Data Available

Transcripts for NAXE Gene

mRNA/cDNA for NAXE Gene

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for NAXE - Now 50% OFF >
  • * NAXE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * NAXE tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for NAXE Gene

GeneLoc Exon Structure for
NAXE
ECgene alternative splicing isoforms for
NAXE

Expression for NAXE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of NAXE Gene:

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(4.3)
  • Muscle(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with NAXE: view

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 35 34
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APOA1BP 35 34
  • 90.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apoa1bp 34
  • 87.15 (n)
dog
(Canis familiaris)
Mammalia APOA1BP 35 34
  • 85.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apoa1bp 35 34
  • 85.21 (n)
OneToOne
Naxe 17
oppossum
(Monodelphis domestica)
Mammalia APOA1BP 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOA1BP 35
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APOA1BP 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apoa1bp 34
  • 70.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16801 34
zebrafish
(Danio rerio)
Actinopterygii apoa1bp 35 34
  • 65.8 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2974 35 34
  • 61.65 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003324 34
  • 56.64 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y18D10A.3 34
  • 51.69 (n)
Y18D10A.3 35
  • 32 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL161C 34
  • 51.17 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20768g 34
  • 49.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNL200C 34
  • 46.92 (n)
-- 35
  • 40 (a)
OneToMany
NNR1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons PPOX 34
  • 52.21 (n)
rice
(Oryza sativa)
Liliopsida Os10g0377800 34
  • 57.14 (n)
Os.16785 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08070 34
  • 52.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug182 34
  • 50.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.2106 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2106 34
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 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

Sequence variations from dbSNP and Humsavar for NAXE Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs139093330 pathogenic, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 156,592,671(+) G/A splice_donor_variant
rs371872027 pathogenic, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 156,591,981(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs759251812 pathogenic, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 156,592,114(+) C/T coding_sequence_variant, stop_gained
rs879255647 pathogenic, Infantile encephalopathy, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL) [MIM:617186] 156,592,199(+) C/A coding_sequence_variant, missense_variant
rs886041062 pathogenic, Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 156,594,021(+) GAAG/A coding_sequence_variant, inframe_deletion, intron_variant

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NAXE Gene

MalaCards: The human disease database

(2) MalaCards diseases for NAXE Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, and GeneCards

- 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 (PEBEL) [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 mutations affecting the gene represented in this entry.

Additional Disease Information for NAXE

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 58
  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 58
  3. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. (PMID: 27122014) Spiegel R … Elpeleg O (Neurogenetics 2016) 3 4 58
  4. 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 58
  5. Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair. (PMID: 21994945) Marbaix AY … Linster CL (The Journal of biological chemistry 2011) 2 3 58

Products for NAXE Gene

Sources for NAXE Gene

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