PLIN1 - perilipin 1 Gene

Also Known as PERI; PLIN; FPLD4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5346

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27832861 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLIN1 Protein Structure

Perilipin

Perilipin: Perilipin family (10 - 398)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 522 a.a.
Protein Preferred Names Protein Names

perilipin-1

  • lipid droplet-associated protein

PLIN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PLIN1 O60240 AQP7 Homo sapiens O14520 27832861
Intra
PLIN1 O60240 AQP7 Homo sapiens O14520
PLA
27832861
Intra
PLIN1 O60240 AQP7 Homo sapiens O14520 27832861
Cross: Cross-species interaction Intra: Intraspecies interaction

PLIN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82793 Perilipin-1 Antibody (YA2538) WB, ICC/IF Human, Mouse
HY-P86371 Perilipin-1 Antibody (YA6063) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

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
Others PLIN1 NCBI