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    LPIN1 lipin 1 [ Homo sapiens (human) ]

    Gene ID: 23175, updated on 13-May-2024

    Summary

    Official Symbol
    LPIN1provided by HGNC
    Official Full Name
    lipin 1provided by HGNC
    Primary source
    HGNC:HGNC:13345
    See related
    Ensembl:ENSG00000134324 MIM:605518; AllianceGenome:HGNC:13345
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAP1
    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 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, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in testis (RPKM 18.7), ovary (RPKM 8.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2p25.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11677544..11827409)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11710702..11860525)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11817670..11967535)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene growth regulating estrogen receptor binding 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11738736-11738940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11756351-11756851 Neighboring gene RNA, 7SL, cytoplasmic 674, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:11771171-11772370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11796533-11797486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11809762-11810298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11822031-11822671 Neighboring gene uncharacterized LOC100506405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11828037-11828536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11836720-11837568 Neighboring gene uncharacterized LOC101929752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15321 Neighboring gene Sharpr-MPRA regulatory region 9262 Neighboring gene uncharacterized LOC124907735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11884925-11885498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11888010-11888681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15324 Neighboring gene cyclin dependent kinase 8 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11900287-11900799 Neighboring gene neurotensin receptor 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:11919054-11920253 Neighboring gene Sharpr-MPRA regulatory region 7856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15325 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11970167-11970883 Neighboring gene uncharacterized LOC105373430 Neighboring gene microRNA 548s Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15329 Neighboring gene Sharpr-MPRA regulatory region 12680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11179 Neighboring gene microRNA 4262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15333 Neighboring gene Sharpr-MPRA regulatory region 524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15334 Neighboring gene MIR3681 host gene Neighboring gene ST13, Hsp70 interacting protein pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0188, DKFZp781P1796

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidate phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables phosphatidate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic nuclear membrane disassembly TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidic acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylethanolamine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in triglyceride biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in triglyceride biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in triglyceride mobilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    located_in nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidate phosphatase LPIN1
    NP_001248356.1
    NP_001248357.1
    NP_001336128.1
    NP_001336129.1
    NP_001336130.1
    NP_001336131.1
    NP_001336132.1
    NP_001336133.1
    NP_001336134.1
    NP_001336135.1
    NP_001336136.1
    NP_001336137.1
    NP_663731.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012843.2 RefSeqGene

      Range
      74054..154831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001261427.3NP_001248356.1  phosphatidate phosphatase LPIN1 isoform 2

      See identical proteins and their annotated locations for NP_001248356.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI379040, AK294742, AK302922, BC030537, D80010, DB086946
      Consensus CDS
      CCDS58701.1
      UniProtKB/Swiss-Prot
      Q14693
      Related
      ENSP00000401522.2, ENST00000425416.6
      Conserved Domains (3) summary
      pfam04571
      Location:7113
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:632857
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:470560
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    2. NM_001261428.3NP_001248357.1  phosphatidate phosphatase LPIN1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. The encoded isoform (3) is longer compared to isoform 1.
      Source sequence(s)
      AC106875, AI379040, AK294742, BC030537, BP192775, D80010, DC334711
      Consensus CDS
      CCDS58699.1
      UniProtKB/Swiss-Prot
      Q14693
      Related
      ENSP00000397908.2, ENST00000449576.6
      Conserved Domains (4) summary
      pfam15017
      Location:940969
      AF1Q; Drug resistance and apoptosis regulator
      pfam04571
      Location:50155
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:711936
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:549639
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    3. NM_001349199.2NP_001336128.1  phosphatidate phosphatase LPIN1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode the same isoform (1).
      Source sequence(s)
      AC012456, AI379040
      Consensus CDS
      CCDS1682.1
      UniProtKB/Swiss-Prot
      A8MU38, B4DET9, B4DGS4, B4DGZ6, B5MC18, B7Z858, D6W506, E7ESE7, F5GY24, Q14693, Q53T25
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:626851
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:464554
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    4. NM_001349200.2NP_001336129.1  phosphatidate phosphatase LPIN1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (5; also known as gamma) is longer than isoform 1. Both variants 6 and 7 encode the same isoform (5).
      Source sequence(s)
      AC012456, AI379040
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:652877
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:464580
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    5. NM_001349201.2NP_001336130.1  phosphatidate phosphatase LPIN1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (5; also known as gamma) is longer than isoform 1. Both variants 6 and 7 encode the same isoform (5).
      Source sequence(s)
      AC012456, AI379040
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:652877
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:464580
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    6. NM_001349202.2NP_001336131.1  phosphatidate phosphatase LPIN1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (6) is longer than isoform 1. Both variants 8 and 9 encode the same isoform (6).
      Source sequence(s)
      AC012456, AI379040
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:661886
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:499589
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    7. NM_001349203.2NP_001336132.1  phosphatidate phosphatase LPIN1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (6) is longer than isoform 1. Both variants 8 and 9 encode the same isoform (6).
      Source sequence(s)
      AC012456, AI379040
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:661886
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:499589
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    8. NM_001349204.2NP_001336133.1  phosphatidate phosphatase LPIN1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (7; also known as beta) is longer than isoform 1. Variants 10-12 encode the same isoform (7).
      Source sequence(s)
      AC012456, AI379040
      Consensus CDS
      CCDS92716.1
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:662887
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:500590
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    9. NM_001349205.2NP_001336134.1  phosphatidate phosphatase LPIN1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (7; also known as beta) is longer than isoform 1. Variants 10-12 encode the same isoform (7).
      Source sequence(s)
      AC012456, AI379040
      Consensus CDS
      CCDS92716.1
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:662887
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:500590
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    10. NM_001349206.2NP_001336135.1  phosphatidate phosphatase LPIN1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) contains an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (7; also known as beta) is longer than isoform 1. Variants 10-12 encode the same isoform (7).
      Source sequence(s)
      AC012456, AI379040
      Consensus CDS
      CCDS92716.1
      Related
      ENSP00000501331.1, ENST00000674199.1
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:662887
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:500590
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    11. NM_001349207.2NP_001336136.1  phosphatidate phosphatase LPIN1 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and the 5' coding region compared to variant 1. The encoded isoform (8) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC012456, AC106875, AI379040
      Conserved Domains (3) summary
      pfam04571
      Location:31137
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:692917
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:530620
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    12. NM_001349208.2NP_001336137.1  phosphatidate phosphatase LPIN1 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR and the 5' coding region compared to variant 1. The encoded isoform (9) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC012456, AC106875, AI379040
      Conserved Domains (3) summary
      pfam04571
      Location:50156
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:675900
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:513603
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    13. NM_145693.4NP_663731.1  phosphatidate phosphatase LPIN1 isoform 1

      See identical proteins and their annotated locations for NP_663731.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1; also known as alpha). Both variants 1 and 5 encode the same isoform (1).
      Source sequence(s)
      AI379040, BC030537, D80010, DB153243
      Consensus CDS
      CCDS1682.1
      UniProtKB/Swiss-Prot
      A8MU38, B4DET9, B4DGS4, B4DGZ6, B5MC18, B7Z858, D6W506, E7ESE7, F5GY24, Q14693, Q53T25
      Related
      ENSP00000256720.2, ENST00000256720.6
      Conserved Domains (3) summary
      pfam04571
      Location:1107
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:626851
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:464554
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

    RNA

    1. NR_146080.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC012456, AI379040

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      11677544..11827409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      11710702..11860525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001261429.1: Suppressed sequence

      Description
      NM_001261429.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.