NAXE (NAD(P)HX epimerase)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 128240
Gene name NAD(P)HX epimerase
Gene symbol NAXE
Synonyms (NCBI Gene)
AIBPAPOA1BPPEBELYJEFN1
Chromosome 1
Chromosome location 1q22
Summary 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.
6
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
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:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608862 18453 ENSG00000163382
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Pathogenic rs879255647, rs371872027, rs759251812, rs139093330, rs886041063, rs886041064 RCV004576934
RCV004576936
RCV004576937
RCV004576938
RCV004576940
RCV004576941
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 Pathogenic; Likely pathogenic rs2102489248, rs2102491191, rs2102489197, rs765587923, rs1205686109, rs1677397982, rs1677398842 RCV001844359
RCV001775336
RCV001775337
RCV003236334
RCV001782498
RCV001808873
RCV001095389
NAXE-related disorder Likely pathogenic rs1258884250 RCV003403045
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs117805085 RCV005923705
Familial cancer of breast Benign rs6427322 RCV005914470
Malignant lymphoma, large B-cell, diffuse Benign rs117805085 RCV005923706
Malignant tumor of esophagus Benign rs117805085 RCV005923704
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
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