APOA1BP

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) [1] Band 1q22 Start 156,591,756 bp [1] End 156,609,507 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F1 Start 87,963,827 bp [2] End 87,965,802 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 of heart 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 BioGPS 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 Species Human Mouse Entrez 128240 246703 Ensembl ENSG00000163382 ENSMUSG00000028070 UniProt Q8NCW5 Q8K4Z3 RefSeq (mRNA) NM_144772 NM_144897 RefSeq (protein) NP_658985 NP_659146 Location (UCSC) Chr 1: 156.59 – 156.61 Mb Chr 3: 87.96 – 87.97 Mb PubMed search [3] [4]
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]

Structure

APOA1BP gene is located on chromosome 1, with its specific location being 1q22. The gene contains 6 exons, ^[7] 5 introns, and spans 2.5 kb. ^[5] Expression is ubiquitous across all human tissues, with highest observed in kidney, heart, liver, testis, thyroid gland, adrenal gland. ^[5] APOA1BP contains Yje_FN domain. ^[8]

Function

APOA1BP binds to APOA1, APOA2, and high-density lipoprotein (HDL). ^[5] In addition, APOA1BP appears to play a role in sperm capacitation. ^[9] It has been demonstrated that APOA1BP is involved in angiogenesis regulation, by accelerating cholesterol efflux from endothelial cells to HDL. ^{[10] [11]} It is known that zebrafish APOA1BP ortholog Aibp is involved in angiogenesis regulation. ^[10] The protein was also shown to be involved in atherosclerosis protection. ^[11]

References

1. GRCh38: Ensembl release 89: ENSG00000163382 – Ensembl, May 2017
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.
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.
7. "NAXE NAD(P)HX epimerase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-03-28.
8. Rudolph, C.; Sigruener, A.; Hartmann, A.; Orso, E.; Bals-Pratsch, M.; Gronwald, W.; Seifert, B.; Kalbitzer, H. R.; Verdorfer, I.; Luetjens, C. M.; Ortmann, O.; Bornstein, S. R.; Schmitz, G. (May 2007). "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". Hormone and Metabolic Research. 39 (5): 322–335. doi:10.1055/s-2007-977699. ISSN   0018-5043. PMID   17533573.
9. Jha KN, Shumilin IA, Digilio LC, Chertihin O, Zheng H, Schmitz G, Visconti PE, Flickinger CJ, Minor W, Herr JC (May 2008). "Biochemical and Structural Characterization of Apolipoprotein A-I Binding Protein, a Novel Phosphoprotein with a Potential Role in Sperm Capacitation". Endocrinology. 149 (5): 2108–20. doi:10.1210/en.2007-0582. PMC   2329272 . PMID   18202122.
10. Fang, Longhou; Choi, Soo-Ho; Baek, Ji Sun; Liu, Chao; Almazan, Felicidad; Ulrich, Florian; Wiesner, Philipp; Taleb, Adam; Deer, Elena; Pattison, Jennifer; Torres-Vázquez, Jesús; Li, Andrew C.; Miller, Yury I. (2013-06-06). "Control of angiogenesis by AIBP-mediated cholesterol efflux". Nature. 498 (7452): 118–122. Bibcode:2013Natur.498..118F. doi:10.1038/nature12166. ISSN   1476-4687. PMC   3760669 . PMID   23719382.
11. Schneider, Dina A.; Choi, Soo-Ho; Agatisa-Boyle, Colin; Zhu, Laurence; Kim, Jungsu; Pattison, Jennifer; Sears, Dorothy D.; Gordts, PhilipL.S.M.; Fang, Longhou; Miller, Yury I. (2018). "AIBP protects against metabolic abnormalities and atherosclerosis". Journal of Lipid Research. 59 (5): 854–863. doi: 10.1194/jlr.m083618 . ISSN   0022-2275. PMC   5928435 . PMID   29559522.