Plin1 MGI Mouse Gene Detail - MGI:1890505

Symbol

Plin1
Name

perilipin 1
Synonyms

6030432J05Rik, Peri, perilipin A, perilipin B, Plin

Feature Type

protein coding gene
IDs

MGI:1890505
NCBI Gene: 103968
Gene Overview

MyGene.info: PLIN1
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:79721164-79732904 bp, - strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 45.11 cM
Mapping Data

2 experiments

SNPs within 2kb

129 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1890505	protein coding gene	Chr7:79720218-79732904 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032393	protein coding gene	Chr7:81624349-81639015 (-)
A/J	MGP_AJ_G0032372	protein coding gene	Chr7:79736412-79750490 (-)
AKR/J	MGP_AKRJ_G0032308	protein coding gene	Chr7:81441641-81454364 (-)
BALB/cJ	MGP_BALBcJ_G0032384	protein coding gene	Chr7:79428556-79441863 (-)
C3H/HeJ	MGP_C3HHeJ_G0032097	protein coding gene	Chr7:82103810-82118236 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0032876	protein coding gene	Chr7:84824473-84843907 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029884	protein coding gene	Chr7:82275500-82288928 (-)
CAST/EiJ	MGP_CASTEiJ_G0031425	protein coding gene	Chr7:72979417-72995021 (-)
CBA/J	MGP_CBAJ_G0032063	protein coding gene	Chr7:87667549-87680507 (-)
DBA/2J	MGP_DBA2J_G0032218	protein coding gene	Chr7:78306389-78319822 (-)
FVB/NJ	MGP_FVBNJ_G0032173	protein coding gene	Chr7:78220422-78233151 (-)
LP/J	MGP_LPJ_G0032299	protein coding gene	Chr7:82879559-82894048 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032210	protein coding gene	Chr7:87834860-87848428 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032894	protein coding gene	Chr7:80898486-80913983 (-)
PWK/PhJ	MGP_PWKPhJ_G0031145	protein coding gene	Chr7:71480767-71494485 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0030986	protein coding gene	Chr7:67896044-67914734 (-)
WSB/EiJ	MGP_WSBEiJ_G0031543	protein coding gene	Chr7:81218966-81232975 (-)

Human Ortholog

PLIN1, perilipin 1

Vertebrate Orthologs

9

Human Ortholog

PLIN1, perilipin 1
Orthology source: HomoloGene, HGNC
Synonyms

FPLD4, PERI, PLIN
Links

HGNC:9076

NCBI Gene ID: 5346

neXtProt AC: NX_O60240

UniProt: O60240
Chr Location

15q26.1; chr15:89664365-89679417 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 2001
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 macaque, rhesus
HCOP

human homology predictions: PLIN1
Protein SuperFamily

lipid droplet-associated protein, perilipin type
Gene Tree

Plin1

Diseases

1 with human PLIN1 associations

				Human Disease	Mouse Models
				familial partial lipodystrophy type 4 IDs familial partial lipodystrophy type 4 DOID:0070205 OMIM:613877 ORDO:280356

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

42 phenotypes from 5 alleles in 4 genetic backgrounds
2 phenotypes from multigenic genotypes
30 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Radiation induced

2
Targeted

7
Transgenic

2
Genomic Mutations

3 involving Plin1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

7 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous inactivation of this gene leads to increased lean body mass and altered adipocyte lipolysis, leptin production and susceptibility to diet-induced obesity. Increased oxygen and food consumption, impaired cold adaptation, and altered glucose andblood homeostasis have also been observed.

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All GO Annotations

7
GO References

5

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

48
Tissues

17
cDNA Data

23
Literature Summary

18

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase plin1

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Plin1 interacts with 47 markers (Mir19a, Mir129-2, Mir182, ...) View All

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All Sequences

55
RefSeq

6
UniProt

5
CCDS

CCDS21385.1
UniGene

254917

Ensembl

ENSMUSG00000030546 (Evidence)
NCBI Gene

103968

			Length	Strain/Species	Flank
genomic	103968	NCBI Gene Model \| MGI Sequence Detail	11741	C57BL/6J	± kb
transcript	NM_175640	RefSeq \| MGI Sequence Detail	1935	C57BL/6
polypeptide	Q8CGN5	UniProt \| EBI \| MGI Sequence Detail	517	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012869 perilipin-1

(term hierarchy)
InterPro Domains

IPR004279 Perilipin

IPR042998 Perilipin-1

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All nucleic 24

cDNA 23

Primer pair 1

Microarray probesets 2

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MGI:2444270

Summaries

All 93

Developmental Gene Expression 18

Gene Ontology 5

Phenotypes 30
Earliest

J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
Latest

J:277387 Schreiber C, et al., Loss of ASAP1 in mice impairs adipogenic and osteogenic differentiation of mesenchymal progenitor cells through dysregulation of FAK/Src and AKT signaling. PLoS Genet. 2019 Jun;15(6):e1008216

TSS for Plin1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr73124	Chr7:79733337-79733345 (-)	-437 bp
Tssr73123	Chr7:79732903-79732919 (-)	-7 bp
Tssr73122	Chr7:79732866-79732882 (-)	30 bp
Tssr73121	Chr7:79732755-79732847 (-)	103 bp
Tssr73120	Chr7:79732194-79732199 (-)	707 bp
Tssr73119	Chr7:79732163-79732177 (-)	734 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 12/03/2019 MGI 6.14