NAXE - NAD(P)HX epimerase Gene

Also Known as AIBP; PEBEL; YJEFN1; APOA1BP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 128240

About NAXE

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,591,776-156,594,299 (from NCBI)

This gene has 20 transcripts (splice variants), 193 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 11.3), prostate (RPKM 10.3) and 25 other tissues.

Summary

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]

NAXE Products (1)

mRNA	Protein	Name
NM_144772.3	NP_658985.2	NAD(P)H-hydrate epimerase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11991719	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane raft distribution	IMP IMP: Inferred from mutant phenotype	23719382	GOA
involved in negative regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	23719382	GOA
involved in nicotinamide nucleotide metabolic process	IMP IMP: Inferred from mutant phenotype	27616477	GOA
involved in regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	23719382	GOA
involved in sprouting angiogenesis	IMP IMP: Inferred from mutant phenotype	23719382	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular region	IDA IDA: Inferred from direct assay	11991719	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NAXE Protein Structure

YjeF_N

0
100
200
288 a.a.

Protein Preferred Names	Protein Names
NAD(P)H-hydrate epimerase	AI-BP

Recombinant NAXE Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76155	APOA1BP Protein, Human (HEK293, His)	Q8NCW5-1 (M1-Q288)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy PEBEL1 Pebel Nad Hx Epimerase Deficiency Apolipoprotein A-I Binding Protein Deficiency Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy 1 Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, Type 1
Spastic Paraplegia 46, Autosomal Recessive	SPG46 Hereditary Spastic Paraplegia 46 Autosomal Recessive Spastic Paraplegia Type 46 Autosomal Recessive Spastic Paraplegia 46 Paraplegia, Spastic, Type 46, Autosomal Recessive
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
2-Hydroxyglutaric Aciduria	2-Hga 2-Hydroxyglutaric Acidemia 2-Hydroxyglutaricaciduria Combined D-2- And L-2-Hydroxyglutaric Aciduria
Brain Edema	Cerebral Edema Intracranial Swelling Wet Brain
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09050	NAXE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20304	Naxe Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26812	Naxe Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NAXE	VGNC	VGNC:55632
Felis catus	NAXE	VGNC	VGNC:107900
Mus musculus	NAXE	MGD	MGI:2180167
Canis familiaris	NAXE	VGNC	VGNC:53623
Macaca mulatta	NAXE	VGNC	VGNC:100018
Rattus norvegicus	NAXE	RGD	RGD:1304699
Others	NAXE	NCBI