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

Gene ID: 55739, updated on 8-Jul-2021

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
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
Expression
Ubiquitous expression in testis (RPKM 20.3), ovary (RPKM 19.8) and 25 other tissues See more
Orthologs
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Genomic context

See NAXD in Genome Data Viewer
Location:
13q34
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (110615460..110639996)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (111267807..111292343)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene collagen type IV alpha 2 chain Neighboring gene COL4A2 antisense RNA 1 Neighboring gene RAB20, member RAS oncogene family Neighboring gene cysteinyl-tRNA synthetase 2, mitochondrial Neighboring gene inhibitor of growth family member 1 Neighboring gene ribosomal protein L21 pseudogene 107

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ING1

Homology

Clone Names

  • FLJ10769, FLJ34548, FLJ52550

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ADP-dependent NAD(P)H-hydrate dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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 biological_process ND
No biological Data available
more info
 
involved_in metabolite repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

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
NP_001229811.1
NP_001229812.1
NP_060680.2

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)

  1. NM_001242881.2NP_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
    UniProtKB/Swiss-Prot
    Q8IW45
    Related
    ENSP00000504986.1, ENST00000680505.1
    Conserved Domains (1) summary
    cd01171
    Location:69336
    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.
  2. NM_001242882.2NP_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
    UniProtKB/Swiss-Prot
    Q8IW45
    Related
    ENSP00000505619.1, ENST00000680254.1
    Conserved Domains (1) summary
    cd01171
    Location:51318
    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.
  3. NM_001242883.2NP_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:26226
    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.
  4. NM_018210.4NP_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/Swiss-Prot
    Q8IW45
    UniProtKB/TrEMBL
    A0A024RDX4
    Related
    ENSP00000311984.2, ENST00000309957.3
    Conserved Domains (1) summary
    cd01171
    Location:69289
    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.

RNA

  1. NR_040103.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK093771, BC006416, DA815628
  2. NR_040104.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK024260, AL139385, BC006416, DA815628
    Related
    ENST00000470164.2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    110615460..110639996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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