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  2. LPIN1 - lipin 1 Gene

LPIN1 - lipin 1 Gene

中文名称:立平 1

种属: Homo sapiens

同用名: PAP1

基因 ID: 23175 | 基因类型: protein coding

关于 LPIN1

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:11,677,544-11,827,409 (from NCBI)

This gene has 20 transcripts (splice variants), 273 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 18.7), ovary (RPKM 8.2) and 24 other tissues.

功能概要

该基因编码一种镁离子依赖性磷脂酸磷酸水解酶,该酶催化甘油三酯合成的倒数第二步,包括磷脂酸去磷酸化以产生甘油二酯。该基因的表达是脂肪细胞分化所必需的,它还作为核转录共激活因子与一些过氧化物酶体增殖物激活受体一起调节参与脂质代谢的其他基因的表达。该基因的突变与代谢综合征、2 型糖尿病、急性复发性横纹肌溶解症和常染色体隐性急性复发性肌红蛋白尿症 (ARARM) 相关。该基因也是几种人类脂肪营养不良综合征的候选基因。[RefSeq 提供,2017 年 3 月]

This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase Enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of Other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]

LPIN1 基因产物(13)

mRNA Protein Name
NM_001261427.3 NP_001248356.1 phosphatidate phosphatase LPIN1 isoform 2
NM_001261428.3 NP_001248357.1 phosphatidate phosphatase LPIN1 isoform 3
NM_001349199.2 NP_001336128.1 phosphatidate phosphatase LPIN1 isoform 1
NM_001349200.2 NP_001336129.1 phosphatidate phosphatase LPIN1 isoform 5
NM_001349201.2 NP_001336130.1 phosphatidate phosphatase LPIN1 isoform 5
NM_001349202.2 NP_001336131.1 phosphatidate phosphatase LPIN1 isoform 6
NM_001349203.2 NP_001336132.1 phosphatidate phosphatase LPIN1 isoform 6
NM_001349204.2 NP_001336133.1 phosphatidate phosphatase LPIN1 isoform 7
NM_001349205.2 NP_001336134.1 phosphatidate phosphatase LPIN1 isoform 7
NM_001349206.2 NP_001336135.1 phosphatidate phosphatase LPIN1 isoform 7
NM_001349207.2 NP_001336136.1 phosphatidate phosphatase LPIN1 isoform 8
NM_001349208.2 NP_001336137.1 phosphatidate phosphatase LPIN1 isoform 9
NM_145693.4 NP_663731.1 phosphatidate phosphatase LPIN1 isoform 1

LPIN1 蛋白结构

Lipin_N

Lipin_N: lipin, N-terminal conserved region (1 - 111)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (674 - 830)

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

phosphatidate phosphatase LPIN1

LPIN1 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
种属内
LPIN1 Q14693 GTF3C3 Homo sapiens Q9Y5Q9 32814053
种属内
LPIN1 Q14693 GTF3C3 Homo sapiens Q9Y5Q9 32814053
种属内
LPIN1 Q14693 GTF3C3 Homo sapiens Q9Y5Q9 32814053
种属内
LPIN1 Q14693 JPH3 Homo sapiens Q8WXH2 32814053
种属内
LPIN1 Q14693 JPH3 Homo sapiens Q8WXH2 32814053
种属内
LPIN1 Q14693 JPH3 Homo sapiens Q8WXH2 32814053
种属内
LPIN1 Q14693 HSPB1 Homo sapiens P04792 32814053
种属内
LPIN1 Q14693 HSPB1 Homo sapiens P04792 32814053
种属内
LPIN1 Q14693 HSPB1 Homo sapiens P04792 32814053
种属内
LPIN1 Q14693 ATXN10 Homo sapiens Q9UBB4 32814053
种属内
LPIN1 Q14693 ATXN10 Homo sapiens Q9UBB4 32814053
种属内
LPIN1 Q14693 ATXN10 Homo sapiens Q9UBB4 32814053
种属内
LPIN1 Q14693 WFS1 Homo sapiens O76024 32814053
种属内
LPIN1 Q14693 WFS1 Homo sapiens O76024 32814053
种属内
LPIN1 Q14693 WFS1 Homo sapiens O76024 32814053
种属内
LPIN1 Q14693 GFAP Homo sapiens P14136 32814053
种属内
LPIN1 Q14693 GFAP Homo sapiens P14136 32814053
种属内
LPIN1 Q14693 GFAP Homo sapiens P14136 32814053
种属内
LPIN1 Q14693 DBH Homo sapiens P09172 32814053
种属内
LPIN1 Q14693 DBH Homo sapiens P09172 32814053
种属内
LPIN1 Q14693 DBH Homo sapiens P09172 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

LPIN1 抗体

目录号 产品名 应用 反应物种
HY-P82164 Lipin 1 Antibody (YA1909) WB, IHC-P, ICC/IF, IP, FC Human

关联疾病

疾病名称 别名
Myoglobinuria, Acute Recurrent, Autosomal Recessive

Myoglobinuria, Familial Paroxysmal Paralytic

Rhabdomyolysis, Acute Recurrent

ARARM

Acute Recurrent Rhabdomyolysis

Familial Paroxysmal Paralytic Myoglobinuria

Genetic Recurrent Myoglobinuria
Myoglobinuria
Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Peroneal Neuropathy

Peroneal Neuropathies

Febrile Seizures, Familial, 5

FEB5

Familial Febrile Seizures 5

Convulsions, Familial Febrile, 5

Familial Febrile Convulsions 5

Febrile Convulsions, Familial, 5

Lipodystrophy, Congenital Generalized, Type 1

Congenital Generalized Lipodystrophy Type 1

Bscl1

CGL1

Berardinelli-Seip Congenital Lipodystrophy, Type 1

Brunzell Syndrome Agpat2-Related

Berardinelli-Seip Congenital Lipodystrophy Type 1

Lipodystrophy, Berardinelli-Seip Congenital, Type 1

Brunzell Syndrome, Agpat2-Related

Agpat2-Related Brunzell Syndrome

Congenital Generalized Lipodystrophy 1

Berardinelli-Seip Syndrome

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Total Lipodystrophy And Acromegaloid Gigantism

Lipodystrophy, Generalized, Congenital, Type 1

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2

CGL2

Berardinelli-Seip Congenital Lipodystrophy Type 2

Berardinelli-Seip Syndrome

Brunzell Syndrome Bscl2-Related

Total Lipodystrophy And Acromegaloid Gigantism

Berardinelli-Seip Congenital Lipodystrophy, Type 2

Seip Syndrome

Berardinelli Syndrome

Lipodystrophy, Total, And Acromegaloid Gigantism

Lipoatrophic Diabetes, Congenital

Lipodystrophy, Berardinelli-Seip Congenital, Type 2

Brunzell Syndrome, Bscl2-Related

Congenital Lipoatrophic Diabetes

Congenital Generalized Lipodystrophy 2

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Inflammatory Bowel Disease 27

IBD27

Complete Generalized Lipodystrophy
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

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

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

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Diabetes Mellitus

Diabetes

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
Canis familiaris LPIN1 VGNC VGNC:42751
Rattus norvegicus LPIN1 RGD RGD:1307646
Macaca mulatta LPIN1 VGNC VGNC:74278
Felis catus LPIN1 VGNC VGNC:63268
Mus musculus LPIN1 MGD MGI:1891340
Bos taurus LPIN1 VGNC VGNC:30966