APOA1BP

NAXE
Identifiers
AliasesNAXE, AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL
External IDsOMIM: 608862; MGI: 2180167; GeneCards: NAXE
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
5.1.99.6↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000163382 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  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. ^ 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.
  11. ^ 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.
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