PLIN5 (perilipin 5) - Rat Genome Database
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Gene: PLIN5 (perilipin 5) Homo sapiens
Analyze
Symbol: PLIN5
Name: perilipin 5
RGD ID: 2881444
HGNC Page HGNC
Description: Predicted to have identical protein binding activity and lipase binding activity. Predicted to be involved in several processes, including negative regulation of peroxisome proliferator activated receptor signaling pathway; regulation of lipase activity; and regulation of lipid metabolic process. Localizes to intracellular membrane-bounded organelle and lipid droplet.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: lipid storage droplet protein 5; LSDA5; LSDP5; MLDP; OXPAT; perilipin-5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl194,522,531 - 4,535,224 (-)EnsemblGRCh38hg38GRCh38
GRCh38194,522,531 - 4,535,224 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37194,522,543 - 4,535,236 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,473,543 - 4,486,208 (-)NCBINCBI36hg18NCBI36
Celera194,461,329 - 4,473,994 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef194,284,194 - 4,296,925 (-)NCBIHuRef
CHM1_1194,522,721 - 4,535,399 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:17234449   PMID:19602560   PMID:19638644   PMID:19717842   PMID:21393244   PMID:21632259   PMID:21873635   PMID:22127648   PMID:22667335   PMID:23129790   PMID:24535284  
PMID:25054327   PMID:26186194   PMID:26447519   PMID:27428080   PMID:27922115   PMID:28514442   PMID:29110300   PMID:29752569   PMID:30591149   PMID:31173228   PMID:32296183  


Genomics

Comparative Map Data
PLIN5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl194,522,531 - 4,535,224 (-)EnsemblGRCh38hg38GRCh38
GRCh38194,522,531 - 4,535,224 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37194,522,543 - 4,535,236 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,473,543 - 4,486,208 (-)NCBINCBI36hg18NCBI36
Celera194,461,329 - 4,473,994 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef194,284,194 - 4,296,925 (-)NCBIHuRef
CHM1_1194,522,721 - 4,535,399 (-)NCBICHM1_1
Plin5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391756,418,601 - 56,424,606 (-)NCBIGRCm39mm39
GRCm39 Ensembl1756,418,601 - 56,424,596 (-)Ensembl
GRCm381756,111,597 - 56,117,606 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,111,601 - 56,117,596 (-)EnsemblGRCm38mm10GRCm38
MGSCv371756,251,024 - 56,256,971 (-)NCBIGRCm37mm9NCBIm37
MGSCv361755,704,894 - 55,710,821 (-)NCBImm8
Celera1759,530,262 - 59,536,209 (-)NCBICelera
Cytogenetic Map17DNCBI
Plin5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.29939,745 - 946,188 (-)NCBI
Rnor_6.0 Ensembl910,956,056 - 10,961,782 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0910,956,013 - 10,961,782 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.099,943,003 - 9,948,729 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera97,561,527 - 7,567,886 (+)NCBICelera
Cytogenetic Map9q12NCBI
Plin5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,407,246 - 4,416,848 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,406,590 - 4,414,783 (+)NCBIChiLan1.0ChiLan1.0
PLIN5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1194,496,475 - 4,502,936 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0193,542,675 - 3,555,611 (-)NCBIMhudiblu_PPA_v0panPan3
PLIN5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2055,181,198 - 55,189,366 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12055,181,171 - 55,189,369 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Plin5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365882,629,762 - 2,637,303 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLIN5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl274,300,619 - 74,315,125 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1274,304,613 - 74,314,314 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2274,797,979 - 74,806,072 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLIN5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.164,251,316 - 4,262,656 (-)NCBI
ChlSab1.1 Ensembl64,251,751 - 4,261,126 (-)Ensembl
Plin5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248285,208,060 - 5,218,553 (+)NCBI

Position Markers
RH91548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,537,370 - 4,537,547UniSTSGRCh37
Build 36194,488,370 - 4,488,547RGDNCBI36
Celera194,476,156 - 4,476,333RGD
Cytogenetic Map19p13.3UniSTS
HuRef194,299,087 - 4,299,264UniSTS
GeneMap99-GB4 RH Map1932.22UniSTS
RH80514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,537,264 - 4,537,514UniSTSGRCh37
Build 36194,488,264 - 4,488,514RGDNCBI36
Celera194,476,050 - 4,476,300RGD
Cytogenetic Map19p13.3UniSTS
HuRef194,298,981 - 4,299,231UniSTS
GeneMap99-GB4 RH Map1931.92UniSTS
RH48973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,537,145 - 4,537,292UniSTSGRCh37
Build 36194,488,145 - 4,488,292RGDNCBI36
Celera194,475,931 - 4,476,078RGD
Cytogenetic Map19p13.3UniSTS
HuRef194,298,862 - 4,299,009UniSTS
GeneMap99-GB4 RH Map1932.33UniSTS
RH41861  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3UniSTS
HuRef194,284,232 - 4,284,390UniSTS
GeneMap99-GB4 RH Map1932.22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2663
Count of miRNA genes:982
Interacting mature miRNAs:1193
Transcripts:ENST00000381848, ENST00000586133, ENST00000588887, ENST00000589728, ENST00000590350, ENST00000592610
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 863 1235 1017 549 629 402 1613 1550 427 83 446 636 144 1054 907 2
Low 1437 1294 680 64 667 50 2227 611 3207 273 916 778 22 1 150 1500 3
Below cutoff 112 458 17 6 320 8 467 21 75 48 65 150 6 381 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000381848   ⟹   ENSP00000371272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,522,531 - 4,535,224 (-)Ensembl
RefSeq Acc Id: ENST00000586133   ⟹   ENSP00000468027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,533,249 - 4,535,224 (-)Ensembl
RefSeq Acc Id: ENST00000588887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,529,410 - 4,535,224 (-)Ensembl
RefSeq Acc Id: ENST00000589728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,523,909 - 4,525,849 (-)Ensembl
RefSeq Acc Id: ENST00000590350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,529,278 - 4,535,185 (-)Ensembl
RefSeq Acc Id: ENST00000592610   ⟹   ENSP00000464926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,532,372 - 4,534,274 (-)Ensembl
RefSeq Acc Id: NM_001013706   ⟹   NP_001013728
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,522,531 - 4,535,224 (-)NCBI
GRCh37194,522,543 - 4,535,208 (-)RGD
Build 36194,473,543 - 4,486,208 (-)NCBI Archive
Celera194,461,329 - 4,473,994 (-)RGD
HuRef194,284,194 - 4,296,925 (-)ENTREZGENE
CHM1_1194,522,721 - 4,535,399 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001013728 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI31525 (Get FASTA)   NCBI Sequence Viewer  
  ABH07519 (Get FASTA)   NCBI Sequence Viewer  
  Q00G26 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001013728   ⟸   NM_001013706
- UniProtKB: Q00G26 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000468027   ⟸   ENST00000586133
RefSeq Acc Id: ENSP00000371272   ⟸   ENST00000381848
RefSeq Acc Id: ENSP00000464926   ⟸   ENST00000592610

Promoters
RGD ID:6795911
Promoter ID:HG_KWN:28586
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001013706
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,485,926 - 4,486,426 (-)MPROMDB
RGD ID:6795799
Promoter ID:HG_KWN:28587
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000306390,   UC002MAT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,490,814 - 4,491,314 (-)MPROMDB
RGD ID:7238107
Promoter ID:EPDNEW_H24799
Type:initiation region
Name:PLIN5_2
Description:perilipin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24801  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,535,224 - 4,535,284EPDNEW
RGD ID:7238111
Promoter ID:EPDNEW_H24801
Type:initiation region
Name:PLIN5_1
Description:perilipin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24799  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,540,036 - 4,540,096EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1 copy number loss See cases [RCV000051190] Chr19:4417986..4721866 [GRCh38]
Chr19:4417983..4721878 [GRCh37]
Chr19:4368983..4672878 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3 copy number gain See cases [RCV000052880] Chr19:4008560..4763159 [GRCh38]
Chr19:4008558..4763171 [GRCh37]
Chr19:3959558..4714171 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 copy number loss See cases [RCV000053943] Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3
pathogenic
NM_052972.2(LRG1):c.1038C>T (p.Ser346=) single nucleotide variant Malignant melanoma [RCV000072141] Chr19:4537946 [GRCh38]
Chr19:4537958 [GRCh37]
Chr19:4488958 [NCBI36]
Chr19:19p13.3
not provided
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 copy number gain See cases [RCV000134164] Chr19:3947934..5196676 [GRCh38]
Chr19:3947932..5196687 [GRCh37]
Chr19:3898932..5147687 [NCBI36]
Chr19:19p13.3
pathogenic|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 copy number loss See cases [RCV000143614] Chr19:3788727..5147354 [GRCh38]
Chr19:3788725..5147365 [GRCh37]
Chr19:3739725..5098365 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
Single allele duplication Primary amenorrhea [RCV000754469] Chr19:3718839..4604407 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33196 AgrOrtholog
COSMIC PLIN5 COSMIC
Ensembl Genes ENSG00000214456 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000371272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464926 UniProtKB/TrEMBL
  ENSP00000468027 UniProtKB/TrEMBL
Ensembl Transcript ENST00000381848 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586133 UniProtKB/TrEMBL
  ENST00000592610 UniProtKB/TrEMBL
GTEx ENSG00000214456 GTEx
HGNC ID HGNC:33196 ENTREZGENE
Human Proteome Map PLIN5 Human Proteome Map
InterPro Perilipin UniProtKB/Swiss-Prot
KEGG Report hsa:440503 UniProtKB/Swiss-Prot
NCBI Gene 440503 ENTREZGENE
OMIM 613248 OMIM
Pfam Perilipin UniProtKB/Swiss-Prot
PharmGKB PA165394043 PharmGKB
PIRSF PAT UniProtKB/Swiss-Prot
UniProt K7EIX1_HUMAN UniProtKB/TrEMBL
  PLIN5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2RRC1 UniProtKB/Swiss-Prot
  Q6ZS68 UniProtKB/Swiss-Prot