APOA1BP information

NAXE
Identifiers
Aliases	NAXE, AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL
External IDs	OMIM: 608862; MGI: 2180167; HomoloGene: 70948; GeneCards: NAXE; OMA:NAXE - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	156,609,507 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	87,965,802 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; cardiac muscle tissue of right atrium; ; myocardium of left ventricle; ; islet of Langerhans; ; mucosa of transverse colon; ; prefrontal cortex; ; right auricle; ; corpus epididymis; ; anterior pituitary; ; human kidney;
	Top expressed in
	choroid plexus of fourth ventricle; ; facial motor nucleus; ; right kidney; ; utricle; ; right lung lobe; ; Ileal epithelium; ; proximal tubule; ; vestibular sensory epithelium; ; external carotid artery; ; transitional epithelium of urinary bladder;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; NADHX epimerase activity; protein binding; protein homodimerization activity; isomerase activity; metal ion binding; NADPHX epimerase activity;
Cellular component	cell body; extracellular region; cilium; extracellular exosome; intracellular membrane-bounded organelle; mitochondrion; nucleus; nucleoplasm; mitochondrial matrix; extracellular space; cytosol;
Biological process	protein homotetramerization; NAD biosynthesis via nicotinamide riboside salvage pathway; nicotinamide nucleotide metabolic process; NADH metabolic process; NADP metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	128240
	246703
	ENSG00000163382
	ENSMUSG00000028070
	Q8NCW5
	Q8K4Z3
	NM_144772
	NM_144897
	NP_658985
	NP_659146
	Wikidata
View/Edit Human	View/Edit Mouse

Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene.^[5] Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1), a rare, lethal, neurometabolic disorder, is caused by mutation in NAXE gene (APOA1BP being its former name).^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163382 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028070 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ritter M, Buechler C, Boettcher A, Barlage S, Schmitz-Madry A, Orsó E, Bared SM, Schmiedeknecht G, Baehr CH, Fricker G, Schmitz G (May 2002). "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". Genomics. 79 (5): 693–702. doi:10.1006/geno.2002.6761. PMID 11991719.
^ Chiu, Li-Wei; Lin, Sheng-Shing; Chen, Chieh-Ho; Lin, Chien-Heng; Lee, Ni-Chung; Hong, Syuan-Yu; Chou, I.-Ching; Lin, Chien-Lin; Yang, Pei-Yu (2021-10-22). "NAXE gene mutation-related progressive encephalopathy: A case report and literature review". Medicine. 100 (42): e27548. doi:10.1097/MD.0000000000027548. PMC 8542128. PMID 34678889.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163382 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028070 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11991719-5] Ritter M, Buechler C, Boettcher A, Barlage S, Schmitz-Madry A, Orsó E, Bared SM, Schmiedeknecht G, Baehr CH, Fricker G, Schmitz G (May 2002). "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". Genomics. 79 (5): 693–702. doi:10.1006/geno.2002.6761. PMID 11991719.

[6] Chiu, Li-Wei; Lin, Sheng-Shing; Chen, Chieh-Ho; Lin, Chien-Heng; Lee, Ni-Chung; Hong, Syuan-Yu; Chou, I.-Ching; Lin, Chien-Lin; Yang, Pei-Yu (2021-10-22). "NAXE gene mutation-related progressive encephalopathy: A case report and literature review". Medicine. 100 (42): e27548. doi:10.1097/MD.0000000000027548. PMC 8542128. PMID 34678889.

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