Seroatlas · Human Serome Atlas

NAXD

ATP-dependent (S)-NAD(P)H-hydrate dehydratase

Also known as: CARKD, FLJ10769, LP3298, NNRD_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IW45
Gene: NAXD
Ensembl: ENSG00000213995
Chromosome: 13
Canonical length: 347 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

347 residues, UniProt reviewed canonical sequence.

>Q8IW45|NAXD
     1  MVTRAGAGTA VAGAVVVALL SAALALYGPP LDAVLERAFS LRKAHSIKDM ENTLQLVRNI
    61  IPPLSSTKHK GQDGRIGVVG GCQEYTGAPY FAAISALKVG ADLSHVFCAS AAAPVIKAYS
   121  PELIVHPVLD SPNAVHEVEK WLPRLHALVV GPGLGRDDAL LRNVQGILEV SKARDIPVVI
   181  DADGLWLVAQ QPALIHGYRK AVLTPNHVEF SRLYDAVLRG PMDSDDSHGS VLRLSQALGN
   241  VTVVQKGERD ILSNGQQVLV CSQEGSSRRC GGQGDLLSGS LGVLVHWALL AGPQKTNGSS
   301  PLLVAAFGAC SLTRQCNHQA FQKHGRSTTT SDMIAEVGAA FSKLFET

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAXD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 88 nTPM

Expression across tissuesHPA

Tissue

liver: 88 nTPM
ovary: 65 nTPM
adrenal gland: 61 nTPM
cerebral cortex: 46 nTPM
basal ganglia: 46 nTPM
stomach: 46 nTPM

Single-cell type

somatotrophs: 58 nCPM
granulosa cells: 50 nCPM
cytotrophoblasts: 44 nCPM
respiratory ionocytes: 43 nCPM
lactotrophs: 42 nCPM
adrenal cortex cells: 41 nCPM

Immune cell

T-reg: 11 nTPM
myeloid DC: 10 nTPM
plasmacytoid DC: 10 nTPM
naive CD4 T-cell: 9.9 nTPM
memory CD4 T-cell: 9.7 nTPM
gdT-cell: 9.6 nTPM

Brain region

thalamus: 47 nTPM
medulla oblongata: 45 nTPM
hippocampal formation: 44 nTPM
cerebral cortex: 44 nTPM
midbrain: 44 nTPM
white matter: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAXD.

Disease | AllUniProt

Conditions NAXD is implicated in, by any mechanism.

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2) MIM:618321

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 191 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.8
gnomAD pLI: 0.01
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ATP binding
ATP-dependent NAD(P)H-hydrate dehydratase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ribokinase-like
ATP/ADP-dependent (S)-NAD(P)H-hydrate dehydratase
NAD(P)H-hydrate dehydratase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NAXD as an antibody target. Whether an autoantibody or antibody against NAXD could matter depends on whether native NAXD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NAXD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NAXD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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