Gene Gene information from NCBI Gene database.
Entrez ID 23175
Gene name Lipin 1
Gene symbol LPIN1
Synonyms (NCBI Gene)
PAP1
Chromosome 2
Chromosome location 2p25.1
Summary 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
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs119480071 G>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs119480072 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs119480073 C>A,T Pathogenic Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs730880306 T>C Pathogenic Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs886041544 ->GA Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
563
miRTarBase ID miRNA Experiments Reference
MIRT018934 hsa-miR-335-5p Microarray 18185580
MIRT050981 hsa-miR-17-5p CLASH 23622248
MIRT049016 hsa-miR-92a-3p CLASH 23622248
MIRT437695 hsa-miR-27a-3p MicroarrayqRT-PCR 22815788
MIRT437704 hsa-miR-27b-3p MicroarrayqRT-PCR 22815788
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
NFYA Unknown 19553673
NFYB Unknown 19553673
NFYC Unknown 19553673
SREBF1 Unknown 19553673
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IBA
GO:0005515 Function Protein binding IPI 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS 11138012
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605518 13345 ENSG00000134324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14693
Protein name Phosphatidate phosphatase LPIN1 (EC 3.1.3.4) (Lipin-1)
Protein function Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the me
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04571 Lipin_N 1 107 lipin, N-terminal conserved region Family
PF16876 Lipin_mid 464 557 Lipin/Ned1/Smp2 multi-domain protein middle domain Family
PF08235 LNS2 626 851 LNS2 (Lipin/Ned1/Smp2) Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract. {ECO:0000269|PubMed:17158099, ECO:0000269|PubMed:22134922}.
Sequence
MNYVGQLAGQVFVTVKELYKGLNPATLSGCIDIIVIRQPNGNLQCSPFHVRFGKMGVLRS
REKVVDIEINGESVDLHMKLGDNGEAFFVQETDNDQEVIPMHLATSP
ILSEGASRMECQL
KRGSVDRMRGLDPSTPAQVIAPSETPSSSSVVKKRRKRRRKSQLDSLKRDDNMNTSEDED
MFPIEMSSDEAMELLESSRTLPNDIPPFQDDIPEENLSLAVIYPQSASYPNSDREWSPTP
SPSGSRPSTPKSDSELVSKSTERTGQKNPEMLWLWGELPQAAKSSSPHKMKESSPLSSRK
ICDKSHFQAIHSESSDTFSDQSPTLVGGALLDQNKPQTEMQFVNEEDLETLGAAAPLLPM
IEELKPPSASVVQTANKTDSPSRKRDKRSRHLGADGVYLDDLTDMDPEVAALYFPKNGDP
SGLAKHASDNGARSANQSPQSVGSSGVDSGVESTSDGLRDLPSIAISLCGGLSDHREITK
DAFLEQAVSYQQFVDNPAIIDDPNLVVKIGSKYYNWTTAAPLLLAMQAFQKPLPKATVES
IMRDKMPKKGGRWWFSW
RGRNTTIKEESKPEQCLAGKAHSTGEQPPQLSLATRVKHESSS
SDEERAAAKPSNAGHLPLLPNVSYKKTLRLTSEQLKSLKLKNGPNDVVFSVTTQYQGTCR
CEGTIYLWNWDDKVIISDIDGTITRSDTLGHILPTLGKDWTHQGIAKLYHKVSQNGYKFL
YCSARAIGMADMTRGYLHWVNERGTVLPQGPLLLSPSSLFSALHREVIEKKPEKFKVQCL
TDIKNLFFPNTEPFYAAFGNRPADVYSYKQVGVSLNRIFTVNPKGELVQEHAKTNISSYV
RLCEVVDHVFP
LLKRSHSSDFPCSDTFSNFTFWREPLPPFENQDIHSASA
Sequence length 890
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
288
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute rhabdomyolysis Pathogenic rs747835893 RCV005865512
LPIN1-related disorder Likely pathogenic; Pathogenic rs781748056 RCV004754740
Myoglobinuria, acute recurrent, autosomal recessive Likely pathogenic; Pathogenic rs781748056, rs747835893, rs1674723338, rs1678013520, rs533651991, rs119480071, rs119480072, rs119480073, rs730880306, rs778562391, rs886041544, rs1673217321, rs1572931008, rs1572770217 RCV001358672
RCV005014593
RCV001783610
RCV005014699
RCV002497902
RCV000005192
RCV000005193
RCV000005194
RCV000005196
RCV003153140
RCV004782335
RCV005015057
RCV000824909
RCV000995801
See cases Likely pathogenic; Pathogenic rs781748056, rs2148644309 RCV002252674
RCV002252547
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs140608837, rs75093910 RCV005917446
RCV005919356
Acute Recurrent Myoglobinuria Benign; Likely benign; Uncertain significance rs149564563, rs886054809, rs886054795, rs545733054, rs147471777, rs747138667, rs886054808, rs886054810 RCV000343678
RCV000282235
RCV000346136
RCV000302981
RCV000304030
RCV000302915
RCV000372003
RCV000377645
Cholangiocarcinoma Likely benign rs72775811 RCV005916067
Colorectal cancer - rs2148674788 RCV005930175
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 29659171
Breast Neoplasms Associate 25834103, 35184130
Carcinoma Hepatocellular Associate 31162914
Colitis Ulcerative Associate 39596612
Diabetes Mellitus Type 2 Associate 19543209
Esophageal Achalasia Associate 34197731
Fatty Liver Associate 18070763, 28717649
Hepatoblastoma Associate 19553673
HIV Infections Inhibit 25063777
Immunologic Deficiency Syndromes Associate 18070763