Aliases for NAXD Gene

Aliases for NAXD Gene

  • NAD(P)HX Dehydratase 2 3 4 5
  • ATP-Dependent (S)-NAD(P)H-Hydrate Dehydratase 3 4
  • Carbohydrate Kinase Domain-Containing Protein 3 4
  • ATP-Dependent NAD(P)H-Hydrate Dehydratase 2 3
  • Carbohydrate Kinase Domain Containing 2 3
  • ATP-Dependent NAD(P)HX Dehydratase 3 4
  • CARKD 3 4
  • EC 4.2.1.93 4
  • LP3298 3
  • PEBEL2 3

External Ids for NAXD Gene

Previous HGNC Symbols for NAXD Gene

  • CARKD

Summaries for NAXD Gene

GeneCards Summary for NAXD Gene

NAXD (NAD(P)HX Dehydratase) is a Protein Coding gene. Diseases associated with NAXD include Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 and Brain Edema. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism.

UniProtKB/Swiss-Prot Summary for NAXD Gene

  • 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(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.

Gene Wiki entry for NAXD Gene

Additional gene information for NAXD Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAXD Gene

Genomics for NAXD Gene

GeneHancer (GH) Regulatory Elements for NAXD Gene

Promoters and enhancers for NAXD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAXD on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAXD

Genomic Locations for NAXD Gene

Genomic Locations for NAXD Gene
chr13:110,615,460-110,639,996
(GRCh38/hg38)
Size:
24,537 bases
Orientation:
Plus strand
chr13:111,267,807-111,292,343
(GRCh37/hg19)
Size:
24,537 bases
Orientation:
Plus strand

Genomic View for NAXD Gene

Genes around NAXD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAXD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAXD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAXD Gene

Proteins for NAXD Gene

  • Protein details for NAXD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW45-NNRD_HUMAN
    Recommended name:
    ATP-dependent (S)-NAD(P)H-hydrate dehydratase
    Protein Accession:
    Q8IW45
    Secondary Accessions:
    • B4DXT4
    • Q5T9X3
    • Q9H7W1
    • Q9NVF5

    Protein attributes for NAXD Gene

    Size:
    347 amino acids
    Molecular mass:
    36576 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

    Alternative splice isoforms for NAXD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAXD Gene

Post-translational modifications for NAXD Gene

  • Glycosylation at Asn240 and Asn297
  • Modification sites at PhosphoSitePlus

Other Protein References for NAXD Gene

No data available for DME Specific Peptides for NAXD Gene

Domains & Families for NAXD Gene

Gene Families for NAXD Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NAXD Gene

Blocks:
  • Protein of unknown function UPF0031
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NAXD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61130 (B4DKX7_HUMAN)
  • cDNA FLJ55262 (B4DXT4_HUMAN)
  • cDNA FLJ52550 (B7Z3Q0_HUMAN)
  • Carbohydrate kinase domain-containing protein (CARKD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IW45

UniProtKB/Swiss-Prot:

NNRD_HUMAN :
  • Belongs to the NnrD/CARKD family.
Family:
  • Belongs to the NnrD/CARKD family.
genes like me logo Genes that share domains with NAXD: view

Function for NAXD Gene

Molecular function for NAXD Gene

UniProtKB/Swiss-Prot 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(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-NADHX + ATP = ADP + H(+) + NADH + phosphate; Xref=Rhea:RHEA:19017, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57945, ChEBI:CHEBI:64074, ChEBI:CHEBI:456216; EC=4.2.1.93; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-NADPHX + ATP = ADP + H(+) + NADPH + phosphate; Xref=Rhea:RHEA:32231, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57783, ChEBI:CHEBI:64076, ChEBI:CHEBI:456216; EC=4.2.1.93; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=8.62 uM for (6S)-NADHX {ECO:0000269 PubMed:30576410}; Vmax=8.77 umol/min/mg enzyme with (6S)-NADHX as substrate {ECO:0000269 PubMed:30576410};

Enzyme Numbers (IUBMB) for NAXD Gene

Phenotypes From GWAS Catalog for NAXD Gene

Gene Ontology (GO) - Molecular Function for NAXD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA --
GO:0016829 lyase activity IEA --
GO:0047453 ATP-dependent NAD(P)H-hydrate dehydratase activity TAS --
genes like me logo Genes that share ontologies with NAXD: view
genes like me logo Genes that share phenotypes with NAXD: view

Human Phenotype Ontology for NAXD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NAXD Gene

Localization for NAXD Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAXD Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAXD gene
Compartment Confidence
mitochondrion 4
extracellular 2
nucleus 2
cytosol 2
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for NAXD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NAXD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NAXD Gene

Pathways & Interactions for NAXD Gene

genes like me logo Genes that share pathways with NAXD: view

Gene Ontology (GO) - Biological Process for NAXD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0034356 NAD biosynthesis via nicotinamide riboside salvage pathway TAS --
GO:0046496 nicotinamide nucleotide metabolic process IEA --
genes like me logo Genes that share ontologies with NAXD: view

No data available for SIGNOR curated interactions for NAXD Gene

Drugs & Compounds for NAXD Gene

(3) Drugs for NAXD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
NADH Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for NAXD Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with NAXD: view

Transcripts for NAXD Gene

mRNA/cDNA for NAXD Gene

4 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAXD Gene

No ASD Table

Relevant External Links for NAXD Gene

GeneLoc Exon Structure for
NAXD

Expression for NAXD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAXD

Evidence on tissue expression from TISSUES for NAXD Gene

  • Nervous system(5)
  • Liver(4.4)
  • Lung(2.8)
  • Intestine(2.4)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAXD Gene

Orthologs for NAXD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAXD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CARKD 31 30
  • 98.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Carkd 31 30
  • 82.06 (n)
OneToOne
Naxd 17
rat
(Rattus norvegicus)
Mammalia Carkd 30
  • 81.1 (n)
cow
(Bos Taurus)
Mammalia CARKD 31 30
  • 80.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CARKD 31 30
  • 80.02 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CARKD 31
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARKD 31 30
  • 73.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CARKD 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia carkd 30
  • 70.85 (n)
Str.9801 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12305 30
zebrafish
(Danio rerio)
Actinopterygii zgc:171429 30
  • 65.28 (n)
CARKD 31
  • 29 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011983 30
  • 54.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10424 31 30
  • 53.93 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R107.2 31
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR055W 30
  • 52.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04510g 30
  • 49.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKL151C 30
  • 48.83 (n)
-- 31
  • 32 (a)
OneToOne
NNR2 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19150 30
  • 49.23 (n)
soybean
(Glycine max)
eudicotyledons Gma.4754 30
rice
(Oryza sativa)
Liliopsida Os11g0276300 30
  • 50.4 (n)
Os.11423 30
wheat
(Triticum aestivum)
Liliopsida Ta.13459 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC61.03 30
  • 50.06 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02513 30
  • 49.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for NAXD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NAXD Gene

ENSEMBL:
Gene Tree for NAXD (if available)
TreeFam:
Gene Tree for NAXD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAXD: view image

Paralogs for NAXD Gene

No data available for Paralogs for NAXD Gene

Variants for NAXD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAXD Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs1566614549 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 110,622,356(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs1566623786 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 110,637,250(+) G/T SPLICE_DONOR_VARIANT
rs767778853 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 110,638,460(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs773887880 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 110,622,219(+) TAGAA/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs778824382 Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 110,638,486(+) C/CTT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for NAXD Gene

Structural Variations from Database of Genomic Variants (DGV) for NAXD Gene

Variant ID Type Subtype PubMed ID
nsv1038089 CNV loss 25217958
nsv1042232 CNV gain 25217958
nsv1044234 CNV gain 25217958
nsv1044340 CNV gain 25217958
nsv1046423 CNV gain 25217958
nsv1127364 CNV deletion 24896259
nsv456120 CNV loss 19166990
nsv525124 CNV loss 19592680
nsv563123 CNV loss 21841781
nsv563124 CNV loss 21841781
nsv563125 CNV loss 21841781
nsv832720 CNV loss 17160897

Variation tolerance for NAXD Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAXD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAXD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAXD Gene

Disorders for NAXD Gene

MalaCards: The human disease database

(2) MalaCards diseases for NAXD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NAXD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NNRD_HUMAN
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2) [MIM:618321]: An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. {ECO:0000269 PubMed:30576410}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NAXD

genes like me logo Genes that share disorders with NAXD: view

No data available for Genatlas for NAXD Gene

Publications for NAXD Gene

  1. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. (PMID: 30576410) Van Bergen NJ … Hakonarson H (Brain : a journal of neurology 2019) 3 4 54
  2. Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair. (PMID: 21994945) Marbaix AY … Linster CL (The Journal of biological chemistry 2011) 2 3 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for NAXD Gene

Sources for NAXD Gene