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    LPIN1 lipin 1 [ Homo sapiens (human) ]

    Gene ID: 23175, updated on 10-Dec-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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    See LPIN1 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11677544..11827409)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11710702..11860525)
    RS_2024_09 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

    Bibliography

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    Related articles in PubMed

    1. Lipid signaling in keratinocytes: Lipin-1 plays a PArt. Bollag WB. J Lipid Res, 2016 Apr. PMID 26852087, Free PMC Article
    2. The role of lipin-1 in the pathogenesis of alcoholic fatty liver. Bi L, et al. Alcohol Alcohol, 2015 Mar. PMID 25595739
    3. Lipin family proteins--key regulators in lipid metabolism. Chen Y, et al. Ann Nutr Metab, 2015. PMID 25678092
    4. Acute rhabdomyolysis and inflammation. Hamel Y, et al. J Inherit Metab Dis, 2015 Jul. PMID 25778939
    5. Lipin-1 regulates cancer cell phenotype and is a potential target to potentiate rapamycin treatment. Brohée L, et al. Oncotarget, 2015 May 10. PMID 25834103, Free PMC Article

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1.
      Title: Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1.
    2. Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
      Title: Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
    3. 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.
    4. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
      Title: Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
    5. 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.
    6. Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
      Title: Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
    7. 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.
    8. 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.
    9. 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.
    10. Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
      Title: Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
    Submit: New GeneRIF Correction See all GeneRIFs (85)

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 phosphatidic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

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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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    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_001261427.3 → 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_2024_08

    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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