NAXD NAD(P)HX dehydratase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAXDprovided by HGNC
Official Full Name: NAD(P)HX dehydrataseprovided by HGNC
Primary source: HGNC:HGNC:25576
See related: Ensembl:ENSG00000213995 MIM:615910; AllianceGenome:HGNC:25576
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CARKD; LP3298; PEBEL2
Summary: Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 20.3), ovary (RPKM 19.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (110615460..110639996)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (109846085..109870437)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (111267807..111292343)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results show that NAXD deficiency can be classified as a metabolite repair disorder in which accumulation of damaged metabolites likely triggers devastating effects in tissues such as the brain and the heart, eventually leading to early childhood death.
Title: NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Wide tissue distribution of dehydratase and epimerase is consistent with mRNA data for Carkd and Aibp, and their presence in both mitochondria and cytosol is explained by the existence of differently targeted forms of CARKD and AIBP.
Title: Occurrence and subcellular distribution of the NADPHX repair system in mammals.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
NAD(P)HX dehydratase deficiency MedGen: C5193026 OMIM: 618321 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1047 (e-PCR)
- UniSTS:152379

0710008K08Rik (e-PCR), detects polymorphism
- UniSTS:496704

D13S1152 (e-PCR)
- UniSTS:8801

Cda0ch07 (e-PCR)
- UniSTS:16767

SHGC-37618 (e-PCR)
- UniSTS:16604

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent NAD(P)H-hydrate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent NAD(P)H-hydrate dehydratase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP-dependent NAD(P)H-hydrate dehydratase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in NAD biosynthesis via nicotinamide riboside salvage pathway	TAS Traceable Author Statement more info
involved_in metabolite repair	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: ATP-dependent (S)-NAD(P)H-hydrate dehydratase

Names: ATP-dependent NAD(P)H-hydrate dehydratase; ATP-dependent NAD(P)HX dehydratase; carbohydrate kinase domain containing; carbohydrate kinase domain-containing protein

NP_001229810.1

EC 4.2.1.93

NP_001229811.1

EC 4.2.1.93

NP_001229812.1

EC 4.2.1.93

NP_060680.2

EC 4.2.1.93

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001242881.2 → NP_001229810.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform b

See identical proteins and their annotated locations for NP_001229810.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

AL139385, BC041028, BP352152

Consensus CDS

CCDS91836.1

UniProtKB/Swiss-Prot

B4DXT4, Q5T9X3, Q8IW45, Q9H7W1, Q9NVF5

UniProtKB/TrEMBL

A0A7P0T9R3

Related

ENSP00000504986.1, ENST00000680505.1

Conserved Domains (1) summary

cd01171
Location:69 → 336

YXKO-related; B.subtilis YXKO protein of unknown function and related proteins. Based on the conservation of the ATP binding site, the substrate binding site and the Mg2+binding site and structural homology this group is a member of the ribokinase-like superfamily.
NM_001242882.2 → NP_001229811.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform c

See identical proteins and their annotated locations for NP_001229811.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has distinct N- and C-termini and is shorter than isoform a.

Source sequence(s)

AL139385

Consensus CDS

CCDS91835.1

UniProtKB/TrEMBL

A0A7P0T9D8, B4DKX7

Related

ENSP00000505619.1, ENST00000680254.1

Conserved Domains (1) summary

cd01171
Location:51 → 318

YXKO-related; B.subtilis YXKO protein of unknown function and related proteins. Based on the conservation of the ATP binding site, the substrate binding site and the Mg2+binding site and structural homology this group is a member of the ribokinase-like superfamily.
NM_001242883.2 → NP_001229812.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform d

See identical proteins and their annotated locations for NP_001229812.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has distinct N- and C-termini and is shorter than isoform a.

Source sequence(s)

AK024260, AK302117, BC006416, DA815628

Consensus CDS

CCDS55903.1

UniProtKB/Swiss-Prot

Q8IW45

Related

ENSP00000413191.2, ENST00000424185.7

Conserved Domains (1) summary

cd01171
Location:26 → 226

YXKO-related; B.subtilis YXKO protein of unknown function and related proteins. Based on the conservation of the ATP binding site, the substrate binding site and the Mg2+binding site and structural homology this group is a member of the ribokinase-like superfamily.
NM_018210.4 → NP_060680.2 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform a

See identical proteins and their annotated locations for NP_060680.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK001631, AK093771, AK225129, BC005150, BP352152

Consensus CDS

CCDS9513.1

UniProtKB/TrEMBL

A0A7P0T906

Related

ENSP00000311984.2, ENST00000309957.3

Conserved Domains (1) summary

cd01171
Location:69 → 289

YXKO-related; B.subtilis YXKO protein of unknown function and related proteins. Based on the conservation of the ATP binding site, the substrate binding site and the Mg2+binding site and structural homology this group is a member of the ribokinase-like superfamily.