Aliases for NAXE Gene
Aliases for NAXE Gene
External Ids for NAXE Gene
- HGNC: 18453
- Entrez Gene: 128240
- Ensembl: ENSG00000163382
- OMIM: 608862
- UniProtKB: Q8NCW5
Previous HGNC Symbols for NAXE Gene
- APOA1BP
Summaries 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 and Metabolism of water-soluble vitamins and cofactors. 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
- Monarch Initiative
- Search for NAXE at DataMed
- Search for NAXE at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around NAXE on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for NAXE Gene
Genes around NAXE on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q22 by Ensembl
- 1q22 by Entrez Gene
- 1q22 by HGNC
NAXE Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Post-translational modifications for NAXE Gene
- Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.
Other Protein References for NAXE Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for NAXE
-
Abcam antibodies for NAXE
-
Cloud-Clone Corp. Antibodies for NAXE
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Protein Products
-
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-
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-
Abcam proteins for NAXE
Assay Products
-
Cloud-Clone Corp. Assay Kits for NAXE
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for NAXE Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NCW5- Family:
-
- Belongs to the NnrE/AIBP family.
Function for NAXE Gene
Molecular function for NAXE Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- (6R)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide = (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide.
- UniProtKB/Swiss-Prot CatalyticActivity:
- (6R)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide phosphate = (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide phosphate.
- 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.
Enzyme Numbers (IUBMB) for NAXE Gene
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for NAXE Gene
Animal Model Products
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-
-
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-
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Vectors and viruses for KO, Activation, Repression, and more
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miRNA for NAXE Gene
- miRTarBase miRNAs that target NAXE
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for NAXE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NAXE
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No data available for Animal Models , 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
| lysosome | 1 |
- Cytosol (4)
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,IDA | 11991719 |
| GO:0005615 | extracellular space | IEA,ISS | 22261194 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IBA | -- |
Pathways & Interactions for NAXE Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NAD metabolism |
.01
|
|
| 2 | Metabolism of water-soluble vitamins and cofactors | ||
| 3 | Metabolism |
.37
|
|
Pathways by source for NAXE Gene
1 BioSystems pathway for NAXE Gene
5 Reactome pathways for NAXE Gene
Interacting Proteins for NAXE Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006734 | NADH metabolic process | IBA | -- |
| GO:0006739 | NADP metabolic process | IBA | -- |
| GO:0034356 | NAD biosynthesis via nicotinamide riboside salvage pathway | TAS | -- |
| GO:0046496 | nicotinamide nucleotide metabolic process | IMP | 27616477 |
| GO:0051289 | protein homotetramerization | IEA | -- |
No data available for SIGNOR curated interactions for NAXE Gene
Transcripts for NAXE Gene
mRNA/cDNA for NAXE Gene
- (2) REFSEQ mRNAs :
- (210) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for NAXE
- genomics-online: gRNA clones - Search results for 120 available APOA1BP gene related products
- Overview of 120 available APOA1BP gene related products
- Applied Biological Materials CRISPR for NAXE
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for NAXE
miRNA Products
- Search ViGene Biosciences for NAXE
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NAXE
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- genomics-online: shRNA clones - Search results for 120 available APOA1BP gene related products
- Overview of 120 available APOA1BP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NAXE gene
Clone Products
- Sino Biological Human cDNA Clone for NAXE
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for NAXE
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NAXE
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for NAXE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for NAXE Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
-
Gonad
- Primary Oocyte Primary Follicle
NURSA nuclear receptor signaling pathways regulating expression of NAXE Gene:
NAXEmRNA 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for NAXE
-
OriGene qPCR primer pairs for NAXE
- genomics-online: primer clones - Search results for 120 available APOA1BP gene related products
- Overview of 120 available APOA1BP gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APOA1BP 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | APOA1BP 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Apoa1bp 33 |
|
||
| dog (Canis familiaris) |
Mammalia | APOA1BP 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Apoa1bp 33 34 |
|
||
| Naxe 16 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | APOA1BP 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | APOA1BP 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | APOA1BP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apoa1bp 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16801 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apoa1bp 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2974 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003324 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y18D10A.3 33 |
|
||
| Y18D10A.3 34 |
|
OneToMany | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABL161C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F20768g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YNL200C 33 |
|
||
| -- 34 |
|
OneToMany | |||
| NNR1 36 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PPOX 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os10g0377800 33 |
|
||
| Os.16785 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08070 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | mug182 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2106 33 |
|
- 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)
Paralogs for NAXE Gene
Pseudogenes.org Pseudogenes for NAXE Gene
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAXE Gene
Disorders for NAXE Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy |
|
|
| brain edema |
|
|
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
No data available for Genatlas for NAXE Gene
Publications for NAXE Gene
- 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 22 58
- 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 22 58
- 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
- Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. (PMID: 27122014) Spiegel R … Elpeleg O (Neurogenetics 2016) 3 4 58
- 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
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NAXE
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 56 available APOA1BP Antibodies ranked by validation data
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Sources for NAXE Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
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