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  2. NAXE - NAD(P)HX epimerase Gene

NAXE - NAD(P)HX epimerase Gene

中文名称:NAD (P) HX 差向异构酶

种属: Homo sapiens

同用名: AIBP; PEBEL; YJEFN1; APOA1BP

基因 ID: 128240 | 基因类型: protein coding

关于 NAXE

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,591,776-156,594,299 (from NCBI)

This gene has 20 transcripts (splice variants), 193 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 11.3), prostate (RPKM 10.3) and 25 other tissues.

功能概要

该基因的产物与载脂蛋白 AI (apoA-I) 相互作用,后者是高密度脂蛋白 (HDL) 的主要载脂蛋白。它被分泌到一些体液中,其合成和分泌在体外通过与 apoA-I 一起孵育细胞来刺激。人类基因组包含相关的假基因。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_144772.3 NP_658985.2 NAD(P)H-hydrate epimerase precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11991719 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in membrane raft distribution IMP
IMP: 通过突变表型推断
23719382 GOA
involved in negative regulation of angiogenesis IMP
IMP: 通过突变表型推断
23719382 GOA
involved in nicotinamide nucleotide metabolic process IMP
IMP: 通过突变表型推断
27616477 GOA
involved in regulation of cholesterol efflux IMP
IMP: 通过突变表型推断
23719382 GOA
involved in sprouting angiogenesis IMP
IMP: 通过突变表型推断
23719382 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular region IDA
IDA: 通过直接分析推断
11991719 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NAXE 蛋白结构

YjeF_N

YjeF_N: YjeF-related protein N-terminus (81 - 246)

  • 0
  • 100
  • 200
  • 288 a.a.
蛋白主名 其他名称

NAD(P)H-hydrate epimerase

AI-BP

重组 NAXE 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76155 APOA1BP Protein, Human (HEK293, His) Q8NCW5-1 (M1-Q288) ≥95%

关联疾病

疾病名称 别名
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1

Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy

PEBEL1

Pebel

Nad Hx Epimerase Deficiency

Apolipoprotein A-I Binding Protein Deficiency

Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy 1

Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, Type 1

Spastic Paraplegia 46, Autosomal Recessive

SPG46

Hereditary Spastic Paraplegia 46

Autosomal Recessive Spastic Paraplegia Type 46

Autosomal Recessive Spastic Paraplegia 46

Paraplegia, Spastic, Type 46, Autosomal Recessive

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria

2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Brain Edema

Cerebral Edema

Intracranial Swelling

Wet Brain

Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28

SCA28

Ataxia, Spinocerebellar, Type 28

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus NAXE VGNC VGNC:55632
Felis catus NAXE VGNC VGNC:107900
Mus musculus NAXE MGD MGI:2180167
Canis familiaris NAXE VGNC VGNC:53623
Macaca mulatta NAXE VGNC VGNC:100018
Rattus norvegicus NAXE RGD RGD:1304699
Others NAXE NCBI