• Gene id: 128240

Gene Summary

• Gene Symbol: NAXE   Gene   UCSC   Ensembl
• Aliases: AIBP, APOA1BP, PEBEL, YJEFN1
• Gene name: NAD(P)HX epimerase
• Alternate names: NAD(P)H-hydrate epimerase, AI-BP, apoA-I binding protein, apolipoprotein A-I-binding protein, yjeF N-terminal domain-containing protein 1, yjeF_N1,
• Gene location: 1q22 (156591765: 156599817)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 608862

Protein Summary

• Protein general information: Q8NCW5  
  • Name: NAD(P)H hydrate epimerase (EC 5.1.99.6) (Apolipoprotein A I binding protein) (AI BP) (NAD(P)HX epimerase) (YjeF N terminal domain containing protein 1) (YjeF_N1)
  • Length: 288  
  • Mass: 31,675
• Sequence:

  MSRLRALLGLGLLVAGSRVPRIKSQTIACRSGPTWWGPQRLNSGGRWDSEVMASTVVKYLSQEEAQAVDQELFNE
  YQFSVDQLMELAGLSCATAIAKAYPPTSMSRSPPTVLVICGPGNNGGDGLVCARHLKLFGYEPTIYYPKRPNKPL
  FTALVTQCQKMDIPFLGEMPAEPMTIDELYELVVDAIFGFSFKGDVREPFHSILSVLKGLTVPIASIDIPSGWDV
  EKGNAGGIQPDLLISLTAPKKSATQFTGRYHYLGGRFVPPALEKKYQLNLPPYPDTECVYRLQ

• Structural information:
  • Protein Domains: YjeF (65-275)
  • Interpro: IPR004443  IPR036652  IPR032976  
  • Prosite: PS51385
  • STRING: ENSP00000357218
• Other Databases: GeneCards:  NAXE  Malacards:  NAXE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006769	nicotinamide metabolic process	TAS	biological process
GO:0008150	biological_process	ND	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051289	protein homotetramerization	IEA	biological process
GO:0052856	NADHX epimerase activity	IBA	molecular function
GO:0052857	NADPHX epimerase activity	IBA	molecular function
GO:0052857	NADPHX epimerase activity	TAS	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006769	nicotinamide metabolic process	TAS	biological process
GO:0008150	biological_process	ND	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051289	protein homotetramerization	IEA	biological process
GO:0052856	NADHX epimerase activity	IEA	molecular function
GO:0052856	NADHX epimerase activity	IEA	molecular function
GO:0052856	NADHX epimerase activity	IBA	molecular function
GO:0052857	NADPHX epimerase activity	IEA	molecular function
GO:0052857	NADPHX epimerase activity	IBA	molecular function
GO:0052857	NADPHX epimerase activity	TAS	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006769	nicotinamide metabolic process	TAS	biological process
GO:0008150	biological_process	ND	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0052856	NADHX epimerase activity	IBA	molecular function
GO:0052857	NADPHX epimerase activity	IBA	molecular function
GO:0052857	NADPHX epimerase activity	TAS	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 20855565
Cleft defects	GAD: 20634891
Polycystic ovary syndrome (PCOS)	INFBASE: 22935150
Spermatogenic and steroidogenic impairment	MIK: 18285420
Spermatogenesis defects	MIK: 18285420
Hypospermatogenesis	MIK: 28361989
Plays an important role in capacitation possibly providing a link between protein phosphorylation and cholesterol efflux	MIK: 18202122
Spermatogenic and steroidogenic impairment	MIK: 18285420
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18285420	Spermatogenic and steroidogenic impairment, amyloidosis	leucine-75-proline apolipoprotein A-I		25 testicular amyloidosis	Male infertility
18202122	Plays an important role in capacitation possibly providing a link between protein phosphorylation and cholesterol efflux				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray