Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23175 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Lipin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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LPIN1 |
SynonymsGene synonyms aliases
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PAP1 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p25.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
rs1572770217 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1572931008 |
->GTGTCACCACGCAGTACCA |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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Sequence length |
890 |
Interactions |
View interactions |