APOA1BP

NAXE

Identifiers

Aliases, AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 1 (human)

Band 1q22 Start 156,591,756 bp

End156,609,507 bp

Gene location ( Mouse )

Chr.Chromosome 3 (mouse)

Band 3|3 F1 Start 87,963,827 bp

End87,965,802 bp

RNA expression patternHumanMouse (ortholog)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 kidneychoroid 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 bladdern/a

RNA expression pattern

HumanMouse (ortholog)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 kidneychoroid 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

Human Mouse (ortholog)

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 kidneychoroid 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

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

n/a

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

PubMed search

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. 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).

Structure

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

Function

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