1. Gene
  2. H6PD - hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Gene

H6PD - hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Gene

中文名称:6-磷酸己糖脱氢酶/1-葡萄糖脱氢酶

种属: Homo sapiens

同用名: GDH; G6PDH; H6PDH; CORTRD1

基因 ID: 9563 | 基因类型: protein coding

关于 H6PD

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,234,774-9,271,337 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 12.8), skin (RPKM 11.6) and 25 other tissues.

功能概要

葡萄糖-6-磷酸脱氢酶有两种形式。 G 形式是 X 连锁的,由该基因编码的 H 形式是常染色体连锁的。这种 H 形式对其他 6-磷酸己糖 (尤其是 6-磷酸半乳糖) 表现出活性,而 G 形式对 6-磷酸葡萄糖具有特异性。两种形式都存在于大多数组织中,但在红细胞中未发现 H 形式。[RefSeq 提供,2008 年 7 月]

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with Other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

H6PD 基因产物(2)

mRNA Protein Name
NM_001282587.2 NP_001269516.1 GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor
NM_004285.4 NP_004276.2 GDH/6PGL endoplasmic bifunctional protein isoform 2 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 glucose-6-phosphate dehydrogenase activity IDA
IDA: 通过直接分析推断
18628520 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in pentose-phosphate shunt, oxidative branch IMP
IMP: 通过突变表型推断
18628520 GOA
involved in regulation of cortisol biosynthetic process IMP
IMP: 通过突变表型推断
18628520 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum lumen IDA
IDA: 通过直接分析推断
18628520 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

H6PD 蛋白结构

G6PD_N

G6PD_N: Glucose-6-phosphate dehydrogenase, NAD binding domain (29 - 211)

G6PD_C

G6PD_C: Glucose-6-phosphate dehydrogenase, C-terminal domain (223 - 383)

Glucosamine_iso

Glucosamine_iso: Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase (563 - 756)

  • 0
  • 200
  • 400
  • 600
  • 791 a.a.
蛋白主名 其他名称

GDH/6PGL endoplasmic bifunctional protein

6-phosphogluconolactonase

关联疾病

疾病名称 别名
Cortisone Reductase Deficiency 1

CORTRD1

Cortisone Reductase Deficiency, Type 1

Cortisone Reductase Deficiency

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of

Cortrd

Hsd 11b1 Deficiency

Hyperandrogenism Due To Cortisone Reductase Deficiency

11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 1

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Parotitis
Scleromalacia Perforans
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Diabetes Mellitus

Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Macaca mulatta H6PD VGNC VGNC:73340
Rattus norvegicus H6PD RGD RGD:1306562
Mus musculus H6PD MGD MGI:2140356
Felis catus H6PD VGNC VGNC:67529
Canis familiaris H6PD VGNC VGNC:41579