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Aliases for NAXD Gene

Aliases for NAXD Gene

  • NAD(P)HX Dehydratase 2 3 4 5
  • 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
  • ATP-Dependent (S)-NAD(P)H-Hydrate Dehydratase 3
  • EC 4.2.1.93 4
  • LP3298 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. Among its related pathways are Metabolism and NAD metabolism.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for NAXD Gene

Genomics for NAXD Gene

GeneHancer (GH) Regulatory Elements for NAXD Gene

Promoters and enhancers for NAXD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J110614 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 687.5 +1.2 1249 3.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 POLR2B NAXD ENSG00000275880 ANKRD10-IT1 PIR49447 GC13P110574
GH13J110963 Enhancer 1.5 Ensembl ENCODE dbSUPER 71.5 +350.4 350381 5.3 CLOCK IRF4 E2F8 ZNF416 SP3 MEF2D ZNF585B NBN NR2C1 KDM1A LINC00431 NAXD ANKRD10 ANKRD10-IT1 CARS2 LINC00346 ARHGEF7 LOC105370364
GH13J110657 Enhancer 1.1 Ensembl ENCODE dbSUPER 33.8 +42.7 42686 1.7 BATF FOXK2 EED ATF7 ETV6 IKZF2 RUNX3 CBFB HLF JUNB CARS2 NAXD ING1 ANKRD10 COL4A2-AS2 COL4A2 GC13P110640 GC13P110711 GC13P110574
GH13J110640 Enhancer 0.8 ENCODE dbSUPER 40 +25.7 25714 1.2 RXRA ZNF189 EBF1 NR2F2 OSR2 POLR2A ZNF600 HNF4A MAFK CHD2 GC13P110640 NAXD CARS2 ING1 ANKRD10 COL4A2-AS2 COL4A2 GC13P110574 GC13P110711
GH13J110624 Enhancer 0.8 ENCODE dbSUPER 36.5 +10.4 10380 2.2 KLF1 MAZ FOXA2 FOXA3 KLF17 FOXA1 ZFHX2 ZNF600 EGR2 NAXD RAB20 ANKRD10 ENSG00000275880 PIR49447 GC13P110574
- 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

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for NAXD Gene

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:
ATP + (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide = ADP + phosphate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (6S)-6-beta-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine dinucleotide phosphate = ADP + phosphate + NADPH.

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

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , 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 5
extracellular 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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, Potentiation, Pore Blocker 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

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
ECgene alternative splicing isoforms for
NAXD

Expression for NAXD Gene

NURSA nuclear receptor signaling pathways regulating expression of NAXD Gene:

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 34 33
  • 98.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Carkd 34 33
  • 82.06 (n)
OneToOne
Naxd 16
rat
(Rattus norvegicus)
Mammalia Carkd 33
  • 81.1 (n)
cow
(Bos Taurus)
Mammalia CARKD 34 33
  • 80.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CARKD 34 33
  • 80.02 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CARKD 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARKD 34 33
  • 73.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CARKD 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia carkd 33
  • 70.85 (n)
Str.9801 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12305 33
zebrafish
(Danio rerio)
Actinopterygii zgc:171429 33
  • 65.28 (n)
CARKD 34
  • 29 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011983 33
  • 54.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10424 34 33
  • 53.93 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R107.2 34
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR055W 33
  • 52.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04510g 33
  • 49.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKL151C 33
  • 48.83 (n)
-- 34
  • 32 (a)
OneToOne
NNR2 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19150 33
  • 49.23 (n)
soybean
(Glycine max)
eudicotyledons Gma.4754 33
rice
(Oryza sativa)
Liliopsida Os11g0276300 33
  • 50.4 (n)
Os.11423 33
wheat
(Triticum aestivum)
Liliopsida Ta.13459 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC61.03 33
  • 50.06 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02513 33
  • 49.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 from dbSNP and Humsavar for NAXD Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000052717 -- 110,624,069(+) A/G intron_variant
rs1000104796 -- 110,623,828(+) C/G intron_variant
rs1000180917 -- 110,637,835(+) C/T intron_variant
rs1000290229 -- 110,619,236(+) C/G/T intron_variant
rs1000346370 -- 110,624,905(+) C/G intron_variant

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

No disorders were found for NAXD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NAXD Gene

Publications for NAXD Gene

  1. 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for NAXD Gene

Sources for NAXD Gene

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