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
169501372006Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway.226
164672962006The Saccharomyces cerevisiae Lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme.224
171057292007Insulin controls subcellular localization and multisite phosphorylation of the phosphatidic acid phosphatase, lipin 1.102
188179032008Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.72
220551932011ROS-mediated p53 induction of Lpin1 regulates fatty acid oxidation in response to nutritional stress.67
197175602009A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.61
186949392008Temporal and spatial regulation of the phosphatidate phosphatases lipin 1 and 2.58
218032912011Expression of the splicing factor gene SFRS10 is reduced in human obesity and contributes to enhanced lipogenesis.51
205833022010LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.43
183623922008Regulation of lipin-1 gene expression by glucocorticoids during adipogenesis.39

Citation

Dessen P

LPIN1 (lipin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54427/lpin1