NAXE (NAD(P)HX epimerase)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
128240
Gene name Gene Name - the full gene name approved by the HGNC.
NAD(P)HX epimerase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NAXE
Synonyms (NCBI Gene) Gene synonyms aliases
AIBP, APOA1BP, PEBEL, YJEFN1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apo
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs139093330 G>A Pathogenic Splice donor variant
rs371872027 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs759251812 C>T Pathogenic Coding sequence variant, stop gained
rs879255647 C>A Pathogenic Missense variant, coding sequence variant
rs886041064 A>T Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002040 Process Sprouting angiogenesis IMP 23719382
GO:0005515 Function Protein binding IPI 11991719, 23719382
GO:0005576 Component Extracellular region IDA 11991719
GO:0005615 Component Extracellular space ISS 22261194
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608862 18453 ENSG00000163382
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NCW5
Protein name NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipoprotein A-I-binding protein) (AI-BP) (NAD(P)HX epimerase) (NAXE) (YjeF N-terminal domain-containing protein 1) (YjeF_N1)
Protein 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 dehyd
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03853 YjeF_N 80 → 247 YjeF-related protein N-terminus Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in kidney, heart and liver. Present in cerebrospinal fluid and urine but not in serum from healthy patients. Present in serum of sepsis patients (at protein level). {ECO:0000269|PubMed:119917
Sequence 
MSRLRALLGLGLLVAGSRVPRIKSQTIACRSGPTWWGPQRLNSGGRWDSEVMASTVVKYL
SQEEAQAVDQELFNEYQFSVDQLMELAGLSCATAIAKAYPPTSMSRSPPTVLVICGPGNN
GGDGLVCARHLKLFGYEPTIYYPKRPNKPLFTALVTQCQKMDIPFLGEMPAEPMTIDELY
ELVVDAIFGFSFKGDVREPFHSILSVLKGLTVPIASIDIPSGWDVEKGNAGGIQPDLLIS
LTAPKKSATQFTGRYHYLGGRFVPPALEKKYQLNLPPYPDTECVYRLQ
Sequence length 288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Nicotinamide salvaging
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Developmental regression Developmental regression rs1224421127
Encephalopathy ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740
View all (107 more)		 27122014, 27616477, 29884839
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Leukoencephalopathy Leukoencephalopathy rs34757931
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Liver Cell Associate 18277965
Ataxia Associate 27616477
Brain Diseases Associate 34678889
Carcinoma Hepatocellular Associate 18277965
Carcinoma Renal Cell Inhibit 29618705
Coma Associate 27616477
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 27616477, 34678889
Edema Associate 27616477
Infections Associate 27616477
Inflammation Inhibit 29618705