NAXE

Protein identityUniProt · HPA

UniProt accession

Q8NCW5

Gene

NAXE

Ensembl

ENSG00000163382

Chromosome

1

Canonical length

288 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted secreted proteins

Subcellular location

Nucleoplasm,Vesicles,Cytosol

Secretome location

Secreted to blood

Quaternary structure

Homodimer

OverviewNCBI Gene

The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

288 residues, UniProt reviewed canonical sequence.

>Q8NCW5|NAXE
     1  MSRLRALLGL GLLVAGSRVP RIKSQTIACR SGPTWWGPQR LNSGGRWDSE VMASTVVKYL
    61  SQEEAQAVDQ ELFNEYQFSV DQLMELAGLS CATAIAKAYP PTSMSRSPPT VLVICGPGNN
   121  GGDGLVCARH LKLFGYEPTI YYPKRPNKPL FTALVTQCQK MDIPFLGEMP AEPMTIDELY
   181  ELVVDAIFGF SFKGDVREPF HSILSVLKGL TVPIASIDIP SGWDVEKGNA GGIQPDLLIS
   241  LTAPKKSATQ FTGRYHYLGG RFVPPALEKK YQLNLPPYPD TECVYRLQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAXE 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

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

109 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAXE.

Disease | AllUniProt

Conditions NAXE is implicated in, by any mechanism.

• Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1) MIM:617186

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 164 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
• Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
• NAXE-related disorder
• Thyroid cancer, nonmedullary, 1

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)

1.32

gnomAD pLI

0

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lipid transport
• membrane raft distribution
• metabolite repair
• negative regulation of angiogenesis
• nicotinamide nucleotide metabolic process
• regulation of cholesterol efflux
• sprouting angiogenesis

Molecular functions

• identical protein binding
• metal ion binding
• NAD(P)HX epimerase activity
• nucleotide binding

Cellular components

• cell body
• cilium
• cytosol
• extracellular exosome
• extracellular region
• extracellular space
• mitochondrial matrix
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• YjeF N-terminal domain
• YjeF N-terminal domain-containing protein NAXE-like
• YjeF N-terminal domain superfamily
• YjeF-related protein N-terminus

KeywordsUniProt

• Isomerase
• Lipid transport
• Metal-binding
• Mitochondrion
• NAD
• NADP
• Neurodegeneration
• Nucleotide-binding
• Phosphoprotein
• Potassium
• Secreted
• Transit peptide
• Transport

InteractionsUniProt · HPA

Protein binding partners of NAXE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• APOA1
• APOA2
• HSPA8