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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]
NAXE (NAD(P)HX Epimerase) is a Protein Coding gene. Diseases associated with NAXE include Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 and Brain Edema. Among its related pathways are NAD metabolism and Metabolism of water-soluble vitamins and cofactors. An important paralog of this gene is YJEFN3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11991719 |
GO:0016853 | isomerase activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,IDA | 11991719 |
GO:0005615 | extracellular space | ISS | 22261194 |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005929 | cilium | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NAD metabolism |
.01
|
|
2 | Metabolism of water-soluble vitamins and cofactors | ||
3 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002040 | sprouting angiogenesis | IMP | 23719382 |
GO:0006869 | lipid transport | IEA | -- |
GO:0010874 | regulation of cholesterol efflux | IMP | 23719382 |
GO:0016525 | negative regulation of angiogenesis | IMP | 23719382 |
GO:0031580 | membrane raft distribution | IMP | 23719382 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APOA1BP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APOA1BP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Apoa1bp 30 |
|
||
Dog (Canis familiaris) |
Mammalia | APOA1BP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Apoa1bp 30 31 |
|
OneToOne | |
Naxe 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | APOA1BP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | APOA1BP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | APOA1BP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apoa1bp 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16801 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | apoa1bp 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG2974 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003324 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y18D10A.3 30 |
|
||
Y18D10A.3 31 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL161C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F20768g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YNL200C 30 |
|
||
-- 31 |
|
OneToMany | |||
NNR1 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PPOX 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os10g0377800 30 |
|
||
Os.16785 30 |
|
||||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08070 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | mug182 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2106 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
873152 | Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 | 156,593,456(+) |
G/A NM_144772.3(NAXE):c.565G>A (p.Gly189Ser) |
MISSENSE | |
rs1064796609 | Pathogenic: not provided | 156,592,622(+) |
CCAGTGTCAGA/ATCC
NM_144772.3(NAXE):c.468_478delinsATCCCTTTCCTTGGGG (p.Gln157fs) |
FRAMESHIFT | |
rs138816804 | Benign: not provided | 156,592,679(+) |
C/A NM_144772.3(NAXE):c.516+9C>A |
INTRON | |
rs139093330 | Pathogenic: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 | 156,592,671(+) |
G/A NM_144772.3(NAXE):c.516+1G>A |
SPLICE_DONOR | |
rs143449130 | Benign: not provided | 156,594,013(+) |
G/A NM_144772.3(NAXE):c.796G>A (p.Ala266Thr) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 |
|
|
brain edema |
|
|
leukodystrophy, hypomyelinating, 3 |
|
|
l-2-hydroxyglutaric aciduria |
|
|