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    LIPI lipase I [ Homo sapiens (human) ]

    Gene ID: 149998, updated on 28-Oct-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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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