Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55739
Gene name	NAD(P)HX dehydratase
Gene symbol	NAXD
Synonyms (NCBI Gene)	CARKDLP3298PEBEL2
Chromosome	13
Chromosome location	13q34

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs767778853	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs773887880	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs778824382	->TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1566614549	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1566623786	G>T	Pathogenic	Splice donor variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT275676	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT275678	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT551458	hsa-miR-3120-5p	PAR-CLIP	21572407
MIRT551457	hsa-miR-6830-3p	PAR-CLIP	21572407
MIRT275677	hsa-miR-569	PAR-CLIP	21572407
MIRT275679	hsa-miR-633	PAR-CLIP	21572407
MIRT551456	hsa-miR-2355-5p	PAR-CLIP	21572407
MIRT551455	hsa-miR-6888-3p	PAR-CLIP	21572407
MIRT551454	hsa-miR-511-5p	PAR-CLIP	21572407
MIRT275680	hsa-miR-2053	PAR-CLIP	21572407
MIRT551453	hsa-miR-4760-5p	PAR-CLIP	21572407
MIRT551452	hsa-miR-8061	PAR-CLIP	21572407
MIRT446975	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT446974	hsa-miR-4635	PAR-CLIP	22100165
MIRT446973	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT446975	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT446974	hsa-miR-4635	PAR-CLIP	22100165
MIRT446973	hsa-miR-488-3p	PAR-CLIP	22100165

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0016829	Function	Lyase activity	IEA
GO:0016836	Function	Hydro-lyase activity	IEA
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	TAS
GO:0046496	Process	Nicotinamide nucleotide metabolic process	IEA
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	IBA
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	IEA
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	IMP	30576410
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	TAS
GO:0110051	Process	Metabolite repair	IBA

MIM	HGNC	e!Ensembl
615910	25576	ENSG00000213995

Q8IW45

Protein 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)

Protein function

Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01256	Carb_kinase	76 → 338	Carbohydrate kinase	Family

Sequence

MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNI
IPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYS
PELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVI
DADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGN
VTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSS
PLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET

Sequence length

347

Interactions

View interactions

	Reactome
			Nicotinamide salvaging

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NAD(P)HX dehydratase deficiency	Likely pathogenic; Pathogenic	rs1331075407, rs2139640370, rs201720770, rs2501658190, rs2501698949, rs1566623786, rs778824382, rs1566614549, rs773887880, rs1886017689	RCV002244216 RCV002273130 RCV002279910 RCV002279911 RCV003152892 RCV000755009 RCV000755010 RCV000755011 RCV000755012 RCV001255996
NAXD-related disorder	Pathogenic	rs773887880	RCV003965558
Squamous cell lung carcinoma	Pathogenic	rs2501676936	RCV005928584

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs35134894	RCV005914102
Familial cancer of breast	Benign	rs376122865	RCV005926498
Malignant tumor of esophagus	Benign	rs35134894	RCV005914101
Ovarian serous cystadenocarcinoma	Benign	rs35134894	RCV005914103
See cases	Conflicting classifications of pathogenicity	rs767778853	RCV002252227

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenine Nucleotide Translocator Deficiency	Associate	38387170
Blast Crisis	Associate	36834994
Brain Diseases	Associate	38387170
Brain Edema	Associate	38387170
Craniocerebral Trauma	Associate	36834994
Fever	Associate	36834994
Leukoencephalopathies	Associate	38387170
Neurodegenerative Diseases	Associate	36834994
Porphyria Acute Hepatic	Associate	36834994
Porphyria Acute Hepatic	Inhibit	36834994
Status Asthmaticus	Associate	36834994
Syndrome	Associate	36834994

NAXD (NAD(P)HX dehydratase)