Gene: LPIN1 (lipin 1)  Homo sapiens

Symbol: LPIN1
Name: lipin 1
Description: This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp781P1796; KIAA0188; lipin-1; OTTHUMP00000147624; OTTHUMP00000179151; OTTHUMP00000179153; PAP1; phosphatidate phosphatase LPIN1
Orthologs: Mus musculus : Lpin1 (lipin 1)  MGI
Rattus norvegicus : Lpin1 (lipin 1)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1211,788,925 - 11,938,851+NCBI
Human Genome Assembly HuRef211,669,235 - 11,818,856+NCBI
Human Genome Assembly GRCh37211,817,705 - 11,967,535+NCBI
Human Genome Assembly Build 36211,804,191 - 11,884,986+NCBI
Human Cytogenetic Map2p25.1 NCBI
Human Genome Assembly211,837,337 - 11,918,129 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on LPIN1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1316957
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2013-04-09
Status: ACTIVE