1. Gene
  2. PLIN1 - perilipin 1 Gene

PLIN1 - perilipin 1 Gene

Homo sapiens

Also known as PERI; PLIN; FPLD4

Gene ID: 5346 | Gene type: protein coding

About PLIN1

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,664,367-89,679,367 (from NCBI)

This gene has 4 transcripts (splice variants), 158 orthologues, 4 paralogues and is associated with 2 phenotypes. Restricted expression toward fat (RPKM 771.2).

Summary

The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive Lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]

PLIN1 Products(2)

mRNA Protein Name
NM_001145311.2 NP_001138783.1 perilipin-1
NM_002666.5 NP_002657.3 perilipin-1

PLIN1 Protein Structure

Perilipin

Perilipin: Perilipin family (10 - 398)

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  • 522 a.a.
Protein Preferred Names Protein Names

perilipin-1

lipid droplet-associated protein

Related Diseases

Diseases Alias
Lipodystrophy, Familial Partial, Type 4

FPLD4

Plin1-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 4

Familial Partial Lipodystrophy Associated With Plin1 Mutations

Plin1-Related Fpld

Lipodystrophy, Familial Partial, Associated With Plin1 Mutations

Lipodystrophy, Familial Partial, 4

Familial Partial Lipodystrophy

Lipodystrophy, Familial Partial

Fpld

Kobberling-Dunnigan Syndrome

Dunnigan Syndrome

Koberling-Dunnigan Syndrome

Dunnigan-Kobberling Syndrome

Fpl

Familial Partial Lipodystrophy, Type 2

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

Lipodystrophy, Familial Partial, Type 5

FPLD5

Cidec-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 5

Cidec-Related Fpld

Familial Partial Lipodystrophy Associated With Cidec Mutations

Lipodystrophy, Familial Partial, Associated With Cidec Mutations

Lipodystrophy, Familial Partial, 5

Lipodystrophy, Familial Partial, Type 2

FPLD2

Lipoatrophic Diabetes

Familial Partial Lipodystrophy Type 2

Familial Partial Lipodystrophy, Dunnigan Type

Fpl2

Lipoatrophic Diabetes Mellitus

Lipodystrophy, Familial Partial, Dunnigan Type

Lipodystrophy, Familial, Of Limbs And Lower Trunk

Lipodystrophy, Reverse Partial

Familial Partial Lipodystrophy Dunnigan Type

Dunnigan Syndrome

Familial Lipodystrophy Of Limbs And Lower Trunk

Reverse Partial Lipodystrophy

Lipodystrophy, Familial Partial, 2

Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules

Lipodystrophy Familial Of Limbs And Lower Trunk

Lipodystrophy Reverse Partial

Diabetes Mellitus, Lipoatrophic

Familial Partial Lipodystrophy, Type 2

Familial Generalized Lipodystrophy

Diabetes Mellitus

Diabetes

Adiposis Dolorosa

Dercum Disease

Dercum'S Disease

Lipomatosis Dolorosa

Adiposalgia

Adipose Tissue Rheumatism

Anders Syndrome

Dercum-Vitaut Syndrome

Morbus Dercum

Acquired Generalized Lipodystrophy

Lawrence Syndrome

Acquired Lipoatrophic Diabetes

Lawrence-Seip Syndrome

Familial 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

Complete Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 3

FPLD3

Pparg-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 3

Familial Partial Lipodystrophy Associated With Pparg Mutations

Pparg-Related Fpld

Lipodystrophy, Familial Partial, Associated With Pparg Mutations

Insulin Resistance, Severe, Digenic

Lipodystrophy, Familial Partial, 3

Familial Partial Lipodystrophy, Type 3

Lipodystrophy, Familial Partial, Type 6

FPLD6

Lipe-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 6

Lipe-Related Fpld

Lipodystrophy, Familial Partial, Associated With Lipe Mutations

Familial Partial Lipodystrophy Associated With Lipe Mutations

Lipodystrophy, Familial Partial, 6

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

Meibomian Cyst

Chalazion

Meibomian Gland Lipogranuloma

Tarsal Cyst

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

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

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 PLIN1 VGNC VGNC:44690
Bos taurus PLIN1 VGNC VGNC:33029
Felis catus PLIN1 VGNC VGNC:104576
Macaca mulatta PLIN1 VGNC VGNC:76175
Mus musculus PLIN1 MGD MGI:1890505
Rattus norvegicus PLIN1 RGD RGD:3351