LPIN1 (lipin 1)

2014-08-01  

Identity

HGNC
LPIN1
LOCATION
2p25.1
LOCUSID
23175
ALIAS
PAP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23175
MIM: 605518
HGNC: 13345
Ensembl: ENSG00000134324

Variants:

dbSNP: 23175
ClinVar: 23175
TCGA: ENSG00000134324
COSMIC: LPIN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134324ENST00000256720Q14693
ENSG00000134324ENST00000396097Q14693
ENSG00000134324ENST00000396098Q14693
ENSG00000134324ENST00000396099A0A0A0MS66
ENSG00000134324ENST00000423495C9J278
ENSG00000134324ENST00000425416Q14693
ENSG00000134324ENST00000441684C9IYP2
ENSG00000134324ENST00000449576Q14693
ENSG00000134324ENST00000454151H7C3T1

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerophospholipid metabolismKEGGko00564
mTOR signaling pathwayKEGGko04150
Glycerolipid metabolismKEGGhsa00561
Glycerophospholipid metabolismKEGGhsa00564
mTOR signaling pathwayKEGGhsa04150
Metabolic pathwaysKEGGhsa01100
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Depolymerisation of the Nuclear LaminaREACTOMER-HSA-4419969
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PEREACTOMER-HSA-1483213
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD18693052
PA451283rosiglitazoneChemicalClinicalAnnotationassociatedPD18693052

References

Pubmed IDYearTitleCitations
377764352024Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1.2
377764352024Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1.2
371500312023Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?1
371500312023Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?1
352223952022LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis.11
352223952022LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis.11
332745482021LPIN1 downregulation enhances anticancer activity of the novel HDAC/PI3K dual inhibitor FK-A11.2
333006872021Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.2
334565732021Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.9
335969342021Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.11
341977312021Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.6
344672472021Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.6
345769412021NLIP and HAD-like Domains of Pah1 and Lipin 1 Phosphatidate Phosphatases Are Essential for Their Catalytic Activities.5
332745482021LPIN1 downregulation enhances anticancer activity of the novel HDAC/PI3K dual inhibitor FK-A11.2
333006872021Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.2

Citation

Dessen P

LPIN1 (lipin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54427/lpin1-(lipin-1)