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LIPI lipase I [ Homo sapiens (human) ]

Gene ID: 149998, updated on 2-Nov-2024

Summary

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Official Symbol
LIPIprovided by HGNC
Official Full Name
lipase Iprovided by HGNC
Primary source
HGNC:HGNC:18821
See related
Ensembl:ENSG00000188992 MIM:609252; AllianceGenome:HGNC:18821
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
CT17; LPDL; PLA1C; PRED5; mPA-PLA1 beta
Summary
The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression
Biased expression in thyroid (RPKM 1.4), endometrium (RPKM 0.3) and 2 other tissues See more
Orthologs
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Genomic context

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See LIPI in Genome Data Viewer
Location:
21q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14108812..14210955, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12451516..12553663, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (15481133..15583276, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377134 Neighboring gene ankyrin repeat domain 20 family member A18, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1456 Neighboring gene RNA, 5S ribosomal pseudogene 488 Neighboring gene endoplasmic reticulum lectin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13213 Neighboring gene RNA binding motif protein 11 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:15653463-15654235 Neighboring gene ATP binding cassette subfamily C member 13 (pseudogene)

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 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. Lysophosphatidic acid (LPA) signalling in cell migration and cancer invasion: a focussed review and analysis of LPA receptor gene expression on the basis of more than 1700 cancer microarrays. Willier S, et al. Biol Cell, 2013 Aug. PMID 23611148
  2. Expression of multiple membrane-associated phospholipase A1 beta transcript variants and lysophosphatidic acid receptors in Ewing tumor cells. Schmiedel BJ, et al. Mol Biol Rep, 2011 Oct. PMID 21132378
  3. Membrane-associated phospholipase A1 beta (LIPI) Is an Ewing tumour-associated cancer/testis antigen. Foell JL, et al. Pediatr Blood Cancer, 2008 Aug. PMID 18435455
  4. DNA microarrays reveal relationship of Ewing family tumors to both endothelial and fetal neural crest-derived cells and define novel targets. Staege MS, et al. Cancer Res, 2004 Nov 15. PMID 15548687
  5. Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta. Hiramatsu T, et al. J Biol Chem, 2003 Dec 5. PMID 12963729

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Different LIPI transcript variants present in Ewing family tumors (EFT) might be involved in the pathogenesis of EFT by signaling via these LPA receptors.
    Title: Expression of multiple membrane-associated phospholipase A1 beta transcript variants and lysophosphatidic acid receptors in Ewing tumor cells.
Submit: New GeneRIF Correction

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heparin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phospholipase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in lipid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidic acid biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
lipase member I
Names
LPD lipase
cancer/testis antigen 17
lipase, member I
membrane-associated phosphatidic acid-selective phospholipase A1-beta
NP_001289927.1
NP_001289928.1
NP_001289929.1
NP_001289930.1
NP_001366494.1
NP_001366495.1
NP_945347.3
XP_006724028.1
XP_054180309.1

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_021434.2 RefSeqGene

    Range
    979..103121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302998.2 → NP_001289927.1  lipase member I isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AF130358, AY197607, AY918476, JN387910
    Consensus CDS
    CCDS93080.1
    UniProtKB/Swiss-Prot
    G1JSG3, G1JSG4, G1JSG5, G1JSG6, G1JSG7, G1JSG8, G1JSG9, Q6XZB0
    UniProtKB/TrEMBL
    A0A2Q2TCK2
    Related
    ENSP00000505323.1, ENST00000681601.1
    Conserved Domains (1) summary
    cd00707
    Location:41 → 309
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...

  2. NM_001302999.2 → NP_001289928.1  lipase member I isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AF130358, AY197607, AY918476, JN387913
    Consensus CDS
    CCDS93077.1
    UniProtKB/TrEMBL
    A0A087WZG8
    Related
    ENSP00000482652.2, ENST00000614229.5
    Conserved Domains (2) summary
    cd00707
    Location:41 → 279
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
    pfam00151
    Location:14 → 304
    Lipase; Lipase

  3. NM_001303000.2 → NP_001289929.1  lipase member I isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AF130358, AY197607, AY918476, JN387915
    Consensus CDS
    CCDS93081.1
    UniProtKB/TrEMBL
    A0A2Q2TCK2
    Related
    ENSP00000440381.3, ENST00000536861.6
    Conserved Domains (2) summary
    cd00707
    Location:41 → 330
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
    pfam00151
    Location:14 → 330
    Lipase; Lipase

  4. NM_001303001.2 → NP_001289930.1  lipase member I isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AF130358, AY197607, AY918476, JN387916
    Consensus CDS
    CCDS93079.1
    UniProtKB/TrEMBL
    H0Y3S0
    Related
    ENSP00000383072.3, ENST00000400211.3
    Conserved Domains (2) summary
    cd00707
    Location:41 → 309
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
    pfam00151
    Location:14 → 334
    Lipase; Lipase

  5. NM_001379565.1 → NP_001366494.1  lipase member I isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AF130358, AL078615, AP001347, KC877770
    Consensus CDS
    CCDS93078.1
    UniProtKB/TrEMBL
    A0A087WZG8
    Related
    ENSP00000505904.1, ENST00000680801.1
    Conserved Domains (1) summary
    cd00707
    Location:41 → 274
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...

  6. NM_001379566.1 → NP_001366495.1  lipase member I isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AF130358, AL078615, AP001347, KC877770
    Consensus CDS
    CCDS93076.1
    Related
    ENSP00000506458.1, ENST00000679868.1
    Conserved Domains (1) summary
    cl21494
    Location:16 → 144
    Abhydrolase; alpha/beta hydrolases

  7. NM_198996.4 → NP_945347.3  lipase member I isoform 5

    Status: REVIEWED

    Source sequence(s)
    AF130358, AL078615, AP001347, KC877770
    UniProtKB/TrEMBL
    A0A2Q2TCK2
    Related
    ENST00000344577.6
    Conserved Domains (1) summary
    cd00707
    Location:1 → 264
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...

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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    14108812..14210955 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723965.4 → XP_006724028.1  lipase member I isoform X1

    UniProtKB/TrEMBL
    A0A2Q2TCK2
    Conserved Domains (2) summary
    cd00707
    Location:70 → 338
    Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
    pfam00151
    Location:43 → 363
    Lipase; Lipase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    12451516..12553663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324334.1 → XP_054180309.1  lipase member I isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145317.1: Suppressed sequence

    Description
    NM_145317.1: This RefSeq was permanently suppressed because it was created in error.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6XZB0.3 GenPept UniProtKB/Swiss-Prot:Q6XZB0

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