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LPIN1 lipin 1 [ Homo sapiens (human) ]

Gene ID: 23175, updated on 5-Mar-2024

Summary

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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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency? Renard P, et al. Biomed Pharmacother, 2023 Jul. PMID 37150031
  2. LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis. Dai W, et al. Front Immunol, 2022. PMID 35222395, Free PMC Article
  3. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis. Hamel Y, et al. Cell Rep Med, 2021 Aug 17. PMID 34467247, Free PMC Article
  4. Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. Summerlin ML, et al. Am J Med Genet A, 2021 Feb. PMID 33300687
  5. LPIN1 downregulation enhances anticancer activity of the novel HDAC/PI3K dual inhibitor FK-A11. Imai H, et al. Cancer Sci, 2021 Feb. PMID 33274548, Free PMC Article

See all (128) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
    Title: Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
  2. LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis.
    Title: LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis.
  3. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
    Title: Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
  4. NLIP and HAD-like Domains of Pah1 and Lipin 1 Phosphatidate Phosphatases Are Essential for Their Catalytic Activities.
    Title: NLIP and HAD-like Domains of Pah1 and Lipin 1 Phosphatidate Phosphatases Are Essential for Their Catalytic Activities.
  5. Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
    Title: Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
  6. Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.
    Title: Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.
  7. Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
    Title: Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
  8. Lipid-associated PML structures assemble nuclear lipid droplets containing CCTalpha and Lipin1.
    Title: Lipid-associated PML structures assemble nuclear lipid droplets containing CCTα and Lipin1.
  9. Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
    Title: Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
  10. Regulation of Signaling and Metabolism by Lipin-mediated Phosphatidic Acid Phosphohydrolase Activity.
    Title: Regulation of Signaling and Metabolism by Lipin-mediated Phosphatidic Acid Phosphohydrolase Activity.
Submit: New GeneRIF Correction See all GeneRIFs (84)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myoglobinuria, acute recurrent, autosomal recessive
MedGen: C1849386 OMIM: 268200 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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

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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)

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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_001261427.3 → NP_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:7 → 113
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:632 → 857
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:470 → 560
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  2. NM_001261428.3 → NP_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:940 → 969
    AF1Q; Drug resistance and apoptosis regulator
    pfam04571
    Location:50 → 155
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:711 → 936
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:549 → 639
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  3. NM_001349199.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:626 → 851
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:464 → 554
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  4. NM_001349200.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:652 → 877
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:464 → 580
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  5. NM_001349201.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:652 → 877
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:464 → 580
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  6. NM_001349202.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:661 → 886
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:499 → 589
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  7. NM_001349203.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:661 → 886
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:499 → 589
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  8. NM_001349204.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:662 → 887
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:500 → 590
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  9. NM_001349205.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:662 → 887
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:500 → 590
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  10. NM_001349206.2 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:662 → 887
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:500 → 590
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  11. NM_001349207.2 → NP_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:31 → 137
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:692 → 917
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:530 → 620
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  12. NM_001349208.2 → NP_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:50 → 156
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:675 → 900
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:513 → 603
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  13. NM_145693.4 → NP_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:1 → 107
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:626 → 851
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:464 → 554
    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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14693.2 GenPept UniProtKB/Swiss-Prot:Q14693

Gene LinkOut

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