Protein-coding gene in the species Homo sapiens
NAXE |
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Identifiers |
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Aliases | NAXE, AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL |
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External IDs | OMIM: 608862; MGI: 2180167; HomoloGene: 70948; GeneCards: NAXE; OMA:NAXE - orthologs |
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Gene location (Human) |
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![Chromosome 1 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Ideogram_human_chromosome_1.svg/300px-Ideogram_human_chromosome_1.svg.png) | Chr. | Chromosome 1 (human)[1] |
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| Band | 1q22 | Start | 156,591,756 bp[1] |
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End | 156,609,507 bp[1] |
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Gene location (Mouse) |
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![Chromosome 3 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/0/08/Ideogram_house_mouse_chromosome_3.svg/260px-Ideogram_house_mouse_chromosome_3.svg.png) | Chr. | Chromosome 3 (mouse)[2] |
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| Band | 3|3 F1 | Start | 87,963,827 bp[2] |
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End | 87,965,802 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 1: 156.59 – 156.61 Mb | Chr 3: 87.96 – 87.97 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ 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.
- ^ a b c d 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.
- ^ "NAXE NAD(P)HX epimerase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-03-28.
- ^ 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.
- ^ 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.
- ^ a b 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.
- ^ a b 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.