1. Gene
  2. LPIN1 - lipin 1 Gene

LPIN1 - lipin 1 Gene

Homo sapiens

Also known as PAP1

Gene ID: 23175 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

phosphatidate phosphatase LPIN1

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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