2. Gene
  3. NAXD - NAD(P)HX dehydratase Gene

NAXD - NAD(P)HX dehydratase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：NAD (P) HX 脱水酶

种属: Homo sapiens

同用名: CARKD; LP3298; PEBEL2

基因 ID: 55739 | 基因类型: protein coding

关于 NAXD

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:110,615,460-110,639,996 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 20.3), ovary (RPKM 19.8) and 25 other tissues.

功能概要

启用 ATP 依赖性 NAD (P) H 水合物脱水酶活性。预计参与代谢物修复。预测位于胞质溶胶中；内质网；和线粒体。 [由基因组资源联盟提供，2022 年 4 月]

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Predicted to be located in cytosol; endoplasmic reticulum; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

NAXD 基因产物(4)

mRNA Protein Name
NM_001242881.2 NP_001229810.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform b
NM_001242882.2 NP_001229811.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform c
NM_001242883.2 NP_001229812.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform d
NM_018210.4 NP_060680.2 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP-dependent NAD(P)H-hydrate dehydratase activity IMP
IMP: 通过突变表型推断
30576410 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 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

NAXD 蛋白结构

Carb_kinase

Carb_kinase: Carbohydrate kinase (77 - 289)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
蛋白主名 其他名称

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

ATP-dependent NAD(P)H-hydrate dehydratase

NAXD 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra NAXD Q8IW45 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
Intra NAXD Q8IW45 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRTAP10-9 Homo sapiens P60411
Validated Y2H
25416956
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Validated Y2H
25416956
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
25416956
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0-2
Validated Y2H
25416956
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Prey Pooling
25416956
Intra NAXD Q8IW45 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP10-6 Homo sapiens P60371
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRTAP10-6 Homo sapiens P60371
Y2H Array
32296183
Intra NAXD Q8IW45 SGTA Homo sapiens O43765
Validated Y2H
25416956
Intra NAXD Q8IW45 SGTA Homo sapiens O43765
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 SGTA Homo sapiens O43765
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP5-9 Homo sapiens P26371
Validated Y2H
25416956
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
25416956
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
25416956
Intra NAXD Q8IW45 SGTB Homo sapiens Q96EQ0
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 SGTB Homo sapiens Q96EQ0
Validated Y2H
32296183
Intra NAXD Q8IW45 SGTB Homo sapiens Q96EQ0
Y2H Array
32296183
Intra NAXD Q8IW45 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
Intra NAXD Q8IW45 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Array
25416956
Intra NAXD Q8IW45 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra NAXD Q8IW45 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Intra NAXD Q8IW45 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
Intra NAXD Q8IW45 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2

Nad Hx Dehydratase Deficiency

PEBEL2

Carkd Deficiency

Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, Type 2
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
Phototoxic Dermatitis

Dermatitis, Phototoxic

Photosensitisation Reaction

Photosensitive Dermatitis

Photosensitiveness
Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09049 NAXD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NAXD RGD RGD:1562691
Felis catus NAXD VGNC VGNC:102264
Bos taurus NAXD VGNC VGNC:53829
Macaca mulatta NAXD VGNC VGNC:106276
Mus musculus NAXD MGD MGI:1913353
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