|
Gene id |
5346 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PLIN1 Gene UCSC Ensembl |
|
Aliases |
FPLD4, PERI, PLIN |
|
Gene name |
perilipin 1 |
|
Alternate names |
perilipin-1, lipid droplet-associated protein, |
|
Gene location |
15q26.1 (89679366: 89664364) Exons: 10 NC_000012.12
|
|
Gene summary(Entrez) |
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, whe
|
|
OMIM |
170290 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Obesity | GAD: 19399648 |
| Diabetes | GAD: 16836753 |
| Hypercholesterolemia | GAD: 20602615 |
| Metabolic syndrome | GAD: 18812483 |
| Polycystic ovary syndrome (PCOS) | GAD: 19782423 |
| Spermatogenesis defects | MIK: 24727056 |
| Familial partial lipodystrophy | GAD: H00420 |
| Role in spermatogenesis | MIK: 24727056 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24727056 |
Role in sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|