LPIN1 lipin 1 [Homo sapiens (human)] - Gene

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: mouse all
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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Title: Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
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.
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Title: Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
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.
Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
Title: Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
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.
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.
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.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Title: Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
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

Go to the top of the page Help

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	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH25402 (e-PCR)
- UniSTS:46856

SHGC-142622 (e-PCR)
- UniSTS:171558

RH68248 (e-PCR)
- UniSTS:12330

D2S2785 (e-PCR)
- UniSTS:76

D2S1566E (e-PCR)
- UniSTS:150650

SHGC-79603 (e-PCR)
- UniSTS:104590

D2S328 (e-PCR)
- UniSTS:21664

D2S262 (e-PCR), detects polymorphism
- UniSTS:9156

RH70046 (e-PCR)
- UniSTS:22471

RH78739 (e-PCR)
- UniSTS:35272

D2S1701E (e-PCR)
- UniSTS:150730

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

Go to the top of the page Help

Preferred Names: phosphatidate phosphatase LPIN1

NP_001248356.1

EC 3.1.3.4

NP_001248357.1

EC 3.1.3.4

NP_001336128.1

EC 3.1.3.4

NP_001336129.1

EC 3.1.3.4

NP_001336130.1

EC 3.1.3.4

NP_001336131.1

EC 3.1.3.4

NP_001336132.1

EC 3.1.3.4

NP_001336133.1

EC 3.1.3.4

NP_001336134.1

EC 3.1.3.4

NP_001336135.1

EC 3.1.3.4

NP_001336136.1

EC 3.1.3.4

NP_001336137.1

EC 3.1.3.4

NP_663731.1

EC 3.1.3.4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_012843.2 RefSeqGene

Range

74054..154831

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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
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
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

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

11677544..11827409

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.