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// Workers AI · dad joke modeWhat did APOA1BP say to its friend? "You're a-binding influence on me.

From Wikipedia, the free encyclopedia
NAXE
Identifiers
AliasesNAXE, AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL
External IDsOMIM: 608862; MGI: 2180167; HomoloGene: 70948; GeneCards: NAXE; OMA:NAXE - orthologs
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
5.1.99.6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_144772

NM_144897

RefSeq (protein)

NP_658985

NP_659146

Location (UCSC)Chr 1: 156.59 – 156.61 MbChr 3: 87.96 – 87.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

[edit]

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

[edit]

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

[edit]
  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163382 Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 4 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. 1 2 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. 1 2 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.