• Gene id: 55739

Gene Summary

• Gene Symbol: NAXD   Gene   UCSC   Ensembl
• Aliases: CARKD, LP3298, PEBEL2
• Gene name: NAD(P)HX dehydratase
• Alternate names: ATP-dependent (S)-NAD(P)H-hydrate dehydratase, ATP-dependent NAD(P)H-hydrate dehydratase, ATP-dependent NAD(P)HX dehydratase, carbohydrate kinase domain containing, carbohydrate kinase domain-containing protein,
• Gene location: 13q34 (110615459: 110639995)     Exons: 10     NC_000013.11
• OMIM: 607103

Protein Summary

• Protein general information: Q8IW45  
  • Name: ATP dependent (S) NAD(P)H hydrate dehydratase (EC 4.2.1.93) (ATP dependent NAD(P)HX dehydratase) (Carbohydrate kinase domain containing protein) (NAD(P)HX dehydratase)
  • Length: 347  
  • Mass: 36576
• Sequence:

  MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGR
  IGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVV
  GPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSD
  DSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSS
  PLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET

• Structural information:
  • Protein Domains: (53..34-)
    (/note="YjeF-C-terminal)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03157"-)
  • Interpro: IPR000631  IPR029056  
  • Prosite: PS51383
  • CDD: cd01171
  • STRING: ENSP00000311984
• Other Databases: GeneCards:  NAXD  Malacards:  NAXD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	IBA	molecular function
GO:0110051	metabolite repair	IBA	biological process
GO:0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	IMP	molecular function
GO:0052855	ADP-dependent NAD(P)H-hydrate dehydratase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0034356	NAD biosynthesis via nicotinamide riboside salvage pathway	TAS	biological process
GO:0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	IEA	molecular function
GO:0046496	nicotinamide nucleotide metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R