2. Gene
  3. NNT - nicotinamide nucleotide transhydrogenase Gene

NNT - nicotinamide nucleotide transhydrogenase Gene

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

中文名称：烟酰胺核苷酸转氢酶

种属: Homo sapiens

同用名: GCCD4

基因 ID: 23530 | 基因类型: protein coding

关于 NNT

Cytogenetic location: 5p12 Genomic coordinates (GRCh38): 5:43,602,675-43,707,396 (from NCBI)

This gene has 24 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Broad expression in heart (RPKM 59.4), liver (RPKM 33.2) and 24 other tissues.

功能概要

该基因编码线粒体内膜的一个完整蛋白。该酶将 NAD (H) 和 NADP (+) 之间的氢化物转移与穿过线粒体内膜的质子易位结合起来。在大多数生理条件下，该酶利用来自线粒体质子梯度的能量来产生高浓度的 NADPH。产生的 NADPH 用于生物合成和自由基解毒。[RefSeq 提供，2016 年 9 月]

This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]

NNT 基因产物(3)

mRNA Protein Name
NM_001331026.2 NP_001317955.1 NAD(P) transhydrogenase, mitochondrial isoform 2
NM_012343.4 NP_036475.3 NAD(P) transhydrogenase, mitochondrial isoform 1
NM_182977.3 NP_892022.2 NAD(P) transhydrogenase, mitochondrial isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables NADP binding IDA
IDA: 通过直接分析推断
10673423 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in reactive oxygen species metabolic process IMP
IMP: 通过突变表型推断
22634753 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

NNT 蛋白结构

AlaDh_PNT_N

AlaDh_PNT_N: Alanine dehydrogenase/PNT, N-terminal domain (60 - 199)

AlaDh_PNT_C

AlaDh_PNT_C: Alanine dehydrogenase/PNT, C-terminal domain (208 - 372)

PNTB_4TM

PNTB_4TM: 4TM region of pyridine nucleotide transhydrogenase, mitoch (500 - 587)

PNTB

PNTB: NAD(P) transhydrogenase beta subunit (619 - 1080)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1086 a.a.
蛋白主名 其他名称

NAD(P) transhydrogenase, mitochondrial

pyridine nucleotide transhydrogenase

关联疾病

疾病名称 别名
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency

GCCD4

Glucocorticoid Deficiency 4, With Or Without Mineralocorticoid Deficiency

Familial Glucocorticoid Deficiency 4

Fgd4

Glucocorticoid Deficiency 4
Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency

Acth Resistance

Adrenal Unresponsiveness To Acth

Hereditary Unresponsiveness To Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

Glucocorticoid Deficiency, Familial

Glucocorticoid Deficiency 1
Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction
Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5
Glucose Intolerance

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance
Facial Dermatosis

Facial Dermatoses
Microcephaly 1, Primary, Autosomal Recessive

MCPH1

Premature Chromosome Condensation Syndrome

Pcc Syndrome

Primary Autosomal Recessive Microcephaly 1

Microcephaly, Primary Autosomal Recessive, 1

Premature Chromosome Condensation With Microcephaly And Mental Retardation

Microcephaly Vera

True Microcephaly

Microcephaly, Type 1, Primary, Autosomal Recessive

Autosomal Recessive Primary Microcephaly
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete

P450scc Deficiency

Congenital Adrenal Insufficiency

Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete

46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency

Xy Sex Reversal-Adrenal Failure

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal

AICSR

Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete

Adrenal Insufficiency, Congenital

Congenital Adrenal Hyperplasia

Adrenogenital Syndrome
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09396 NNT Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20241 Nnt Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26749 Nnt Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta NNT VGNC VGNC:75363
Rattus norvegicus NNT RGD RGD:1587346
Bos taurus NNT VGNC VGNC:32143
Mus musculus NNT MGD MGI:109279
Canis familiaris NNT VGNC VGNC:43870
Felis catus NNT VGNC VGNC:68510
Others NNT NCBI
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