• Gene id: 23175

Gene Summary

• Gene Symbol: LPIN1   Gene   UCSC   Ensembl
• Aliases: PAP1
• Gene name: lipin 1
• Alternate names: phosphatidate phosphatase LPIN1,
• Gene location: 2p25.1 (11677543: 11827408)     Exons: 33     NC_000002.12
• Gene summary(Entrez): 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 re
• OMIM: 605518

Protein Summary

• Protein general information: Q14693  
  • Name: Phosphatidate phosphatase LPIN1 (EC 3.1.3.4) (Lipin 1)
  • Length: 890  
  • Mass: 98664
  • Tissue specificity: Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract. {ECO
• Sequence:

  MNYVGQLAGQVFVTVKELYKGLNPATLSGCIDIIVIRQPNGNLQCSPFHVRFGKMGVLRSREKVVDIEINGESVD
  LHMKLGDNGEAFFVQETDNDQEVIPMHLATSPILSEGASRMECQLKRGSVDRMRGLDPSTPAQVIAPSETPSSSS
  VVKKRRKRRRKSQLDSLKRDDNMNTSEDEDMFPIEMSSDEAMELLESSRTLPNDIPPFQDDIPEENLSLAVIYPQ
  SASYPNSDREWSPTPSPSGSRPSTPKSDSELVSKSTERTGQKNPEMLWLWGELPQAAKSSSPHKMKESSPLSSRK
  ICDKSHFQAIHSESSDTFSDQSPTLVGGALLDQNKPQTEMQFVNEEDLETLGAAAPLLPMIEELKPPSASVVQTA
  NKTDSPSRKRDKRSRHLGADGVYLDDLTDMDPEVAALYFPKNGDPSGLAKHASDNGARSANQSPQSVGSSGVDSG
  VESTSDGLRDLPSIAISLCGGLSDHREITKDAFLEQAVSYQQFVDNPAIIDDPNLVVKIGSKYYNWTTAAPLLLA
  MQAFQKPLPKATVESIMRDKMPKKGGRWWFSWRGRNTTIKEESKPEQCLAGKAHSTGEQPPQLSLATRVKHESSS
  SDEERAAAKPSNAGHLPLLPNVSYKKTLRLTSEQLKSLKLKNGPNDVVFSVTTQYQGTCRCEGTIYLWNWDDKVI
  ISDIDGTITRSDTLGHILPTLGKDWTHQGIAKLYHKVSQNGYKFLYCSARAIGMADMTRGYLHWVNERGTVLPQG
  PLLLSPSSLFSALHREVIEKKPEKFKVQCLTDIKNLFFPNTEPFYAAFGNRPADVYSYKQVGVSLNRIFTVNPKG
  ELVQEHAKTNISSYVRLCEVVDHVFPLLKRSHSSDFPCSDTFSNFTFWREPLPPFENQDIHSASA

• Structural information:
  • Interpro: IPR036412  IPR026058  IPR031703  IPR007651  IPR013209   IPR031315  IPR028794  
  • STRING: ENSP00000397908
• Other Databases: GeneCards:  LPIN1  Malacards:  LPIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0044255	cellular lipid metabolic process	IBA	biological process
GO:0019432	triglyceride biosynthetic process	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0032869	cellular response to insulin stimulus	IBA	biological process
GO:0009062	fatty acid catabolic process	IBA	biological process
GO:0008195	phosphatidate phosphatase activity	IBA	molecular function
GO:0009062	fatty acid catabolic process	ISS	biological process
GO:0031965	nuclear membrane	ISS	cellular component
GO:0006642	triglyceride mobilization	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0008195	phosphatidate phosphatase activity	IEA	molecular function
GO:0009062	fatty acid catabolic process	IEA	biological process
GO:0019432	triglyceride biosynthetic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008195	phosphatidate phosphatase activity	IEA	molecular function
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0019432	triglyceride biosynthetic process	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0007077	mitotic nuclear envelope disassembly	TAS	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0005634	nucleus	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04150	mTOR signaling pathway
hsa00564	Glycerophospholipid metabolism
hsa00561	Glycerolipid metabolism

Diseases

Associated diseases	References
Acute recurrent myoglobinuria	KEGG:H01290
Acute recurrent myoglobinuria	KEGG:H01290
morbid obesity	PMID:17563064
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray