NAXE
entrez
128240
canonical
uniprot
Q8NCW5
canonical
ensembl
ENSG00000163382
resolver
ensp
ENSP00000357218
resolver
genesymbol
NAXE
resolver
genesymbol_syn
AIBP
resolver
genesymbol_syn
APOA1BP
resolver
genesymbol_syn
YJEFN1
resolver
hgnc
HGNC:18453
resolver
uniprot
B4DGY3
resolver
uniprot
Q496C6
resolver
uniprot
Q5T3I2
resolver
uniprot_entry
NNRE_HUMAN
resolver
uniprot_sec
B4DGY3
resolver
uniprot_sec
Q496C6
resolver
uniprot_sec
Q5T3I2
resolver
amino_acid_sequence
MSRLRALLGLGLLVAGSRVPRIKSQTIACRSGPTWWGPQRLNSGGRWDSEVMASTVVKYLSQEEAQAVDQELFNEYQFSVDQLMELAGLSCATAIAKAYPPTSMSRSPPTVLVICGPGNNGGDGLVCARHLKLFGYEPTIYYPKRPNKPLFTALVTQCQKMDIPFLGEMPAEPMTIDELYELVVDAIFGFSFKGDVREPFHSILSVLKGLTVPIASIDIPSGWDVEKGNAGGIQPDLLISLTAPKKSATQFTGRYHYLGGRFVPPALEKKYQLNLPPYPDTECVYRLQ
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1) [MIM:617186]: An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. {ECO:0000269|PubMed:27122014, ECO:0000269|PubMed:27616477}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.1.99.6
uniprot
proteins
function
FUNCTION: Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration (By similarity) (PubMed:27616477). This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX (By similarity). Accelerates cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis (PubMed:23719382). {ECO:0000255|HAMAP-Rule:MF_03159, ECO:0000269|PubMed:23719382, ECO:0000269|PubMed:27616477}.
uniprot
proteins
mass_dalton
31675
uniprot
proteins
post_translational_modification
PTM: Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation. {ECO:0000255|HAMAP-Rule:MF_03159}.
uniprot
proteins
protein_family
NnrE/AIBP family
uniprot
proteins
pubmed
11991719
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23719382
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27122014
uniprot
proteins
pubmed
27616477
uniprot
proteins
pubmed
33798445
uniprot
proteins
sequence_length
288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03159}. Secreted {ECO:0000255|HAMAP-Rule:MF_03159, ECO:0000269|PubMed:11991719}. Note=In sperm, secretion gradually increases during capacitation. {ECO:0000255|HAMAP-Rule:MF_03159}.
uniprot
proteins