NAXE NAD(P)HX epimerase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAXEprovided by HGNC
Official Full Name: NAD(P)HX epimeraseprovided by HGNC
Primary source: HGNC:HGNC:18453
See related: Ensembl:ENSG00000163382 MIM:608862; AllianceGenome:HGNC:18453
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIBP; PEBEL; YJEFN1; APOA1BP
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]
Expression: Ubiquitous expression in kidney (RPKM 11.3), prostate (RPKM 10.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156591776..156594299)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155728152..155730675)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156561568..156564091)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1alpha Activation.
Title: Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1α Activation.
Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.
Title: Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Title: Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
Title: A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.
Title: Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.
NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1alpha signaling in hepatocellular carcinoma.
Title: NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1α signaling in hepatocellular carcinoma.
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Title: Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Cholesterol Efflux-Independent Modification of Lipid Rafts by AIBP (Apolipoprotein A-I Binding Protein).
Title: Cholesterol Efflux-Independent Modification of Lipid Rafts by AIBP (Apolipoprotein A-I Binding Protein).
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Title: Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Study finds that AIBP was expressed in inflammatory cells in the human lung. In vitro, AIBP in the presence of surfactant reduced LPS-induced p65, ERK1/2 and p38 phosphorylation, and IL-6 secretion by alveolar macrophages. These results suggest that lung injury increases pulmonary AIBP expression, which likely serves to promote cholesterol efflux to surfactant and reduce inflammation.
Title: AIBP augments cholesterol efflux from alveolar macrophages to surfactant and reduces acute lung inflammation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MedGen: C4310675 OMIM: 617186 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G60215 (e-PCR)
- UniSTS:137472

NoName (e-PCR)
- UniSTS:484119

WI-13531 (e-PCR)
- UniSTS:78122

WIAF-2182 (e-PCR)
- UniSTS:68999

RH15878 (e-PCR)
- UniSTS:40860

RH83 (e-PCR)
- UniSTS:84648

D5S449E (e-PCR)
- UniSTS:147422

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD(P)HX epimerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in membrane raft distribution	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metabolite repair	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nicotinamide nucleotide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NAD(P)H-hydrate epimerase

Names: AI-BP; apoA-I binding protein; apolipoprotein A-I-binding protein; yjeF N-terminal domain-containing protein 1; yjeF_N1

NP_658985.2

EC 5.1.99.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.