1. Gene
  2. GPD1 - glycerol-3-phosphate dehydrogenase 1 Gene

GPD1 - glycerol-3-phosphate dehydrogenase 1 Gene

中文名称:3-磷酸甘油脱氢酶 1

种属: Homo sapiens

同用名: GPD-C; HTGTI; GPDH-C

基因 ID: 2819 | 基因类型: protein coding

关于 GPD1

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,104,008-50,111,313 (from NCBI)

This gene has 7 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in fat (RPKM 448.5), kidney (RPKM 83.8) and 3 other tissues.

功能概要

该基因编码 NAD 依赖性甘油 3-磷酸脱氢酶家族的成员。编码的蛋白质通过催化磷酸二羟基丙酮 (DHAP) 和还原型尼古丁腺嘌呤二核苷酸 (NADH) 向甘油-3-磷酸 (G3P) 和 NAD+ 的可逆转化,在碳水化合物和脂质代谢中发挥关键作用。编码的胞质蛋白和线粒体甘油 3-磷酸脱氢酶也形成甘油磷酸穿梭机,促进还原当量从胞质溶胶转移到线粒体。该基因的突变是暂时性婴儿高甘油三酯血症的一个原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 3 月]

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

GPD1 基因产物(2)

mRNA Protein Name
NM_001257199.2 NP_001244128.1 glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 2
NM_005276.4 NP_005267.2 glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 1

GPD1 蛋白结构

NAD_Gly3P_dh_N

NAD_Gly3P_dh_N: NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus (5 - 172)

NAD_Gly3P_dh_C

NAD_Gly3P_dh_C: NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus (193 - 342)

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

glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic

epididymis secretory sperm binding protein

重组 GPD1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70320 GPD1 Protein, Human (HEK293, His) P21695 (M1-M349) ≥95%

关联疾病

疾病名称 别名
Hypertriglyceridemia, Transient Infantile

Transient Infantile Hypertriglyceridemia And Hepatosteatosis

HTGTI

Transient Infantile Hypertriglyceridemia And Fatty Liver

Hypertriglyceridemia

Brugada Syndrome 2

BRGDA2

Brugada Syndrome, Type 2

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Brugada Syndrome 1

BRGDA1

Sudden Unexplained Nocturnal Death Syndrome

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sunds

Brugada Syndrome, Type 1

Brugada Syndrome

Cryptococcal Meningitis

Meningitis, Cryptococcal

Meningitis Cryptococcal

Cryptococcosis

Cryptococcus Neoformans Infection

Torulosis

Busse-Buschke'S Disease

Cryptococcal Infection

European Cryptococcosis

Torula

Infection By Cryptococcus Neoformans

Cryptococcosis Infection

European Blastomycosis

European Blastomycotic Infection

European Blastomycoses Infection

Torula Histolytica Infection

Fungal Meningitis

Meningitis, Fungal

Mycotic Meningitis

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

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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
Mus musculus GPD1 MGD MGI:95679
Felis catus GPD1 VGNC VGNC:67407
Canis familiaris GPD1 VGNC VGNC:41376
Rattus norvegicus GPD1 RGD RGD:621381
Bos taurus GPD1 VGNC VGNC:29529
Others GPD1 NCBI