Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23175
Gene name Gene Name - the full gene name approved by the HGNC.
Lipin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LPIN1
Synonyms (NCBI Gene) Gene synonyms aliases
PAP1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 Microarray, qRT-PCR 22815788
MIRT437704 hsa-miR-27b-3p Microarray, qRT-PCR 22815788
Transcription factors
Transcription factor Regulation Reference
NFYA Unknown 19553673
NFYB Unknown 19553673
NFYC Unknown 19553673
SREBF1 Unknown 19553673
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IBA 21873635
GO:0005515 Function Protein binding IPI 32814053
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus ISS 11138012
GO:0005635 Component Nuclear envelope TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605518 13345 ENSG00000134324
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
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