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    LIPF lipase F, gastric type [ Homo sapiens (human) ]

    Gene ID: 8513, updated on 14-Nov-2024

    Summary

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    Official Symbol
    LIPFprovided by HGNC
    Official Full Name
    lipase F, gastric typeprovided by HGNC
    Primary source
    HGNC:HGNC:6622
    See related
    Ensembl:ENSG00000182333 MIM:601980; AllianceGenome:HGNC:6622
    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
    GL; HGL; HLAL
    Summary
    This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Restricted expression toward stomach (RPKM 9296.8) See more
    Orthologs
    all
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    Genomic context

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    See LIPF in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88664442..88678814)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89548553..89562923)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90424199..90438571)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929727 Neighboring gene renalase, FAD dependent amine oxidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3722 Neighboring gene vomeronasal 1 receptor 55 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90107282-90107945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3724 Neighboring gene lipase family member J Neighboring gene ribosomal protein L7 pseudogene 34 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:90462586-90463435 Neighboring gene N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1 Neighboring gene keratin 8 pseudogene 38 Neighboring gene lipase family member K

    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. Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: site-directed mutagenesis of Cys227 and Cys236 results in substrate-dependent reduction of enzymatic activity. Lohse P, et al. J Lipid Res, 1997 Sep. PMID 9323599
    2. Site-directed removal of N-glycosylation sites in human gastric lipase. Wicker-Planquart C, et al. Eur J Biochem, 1999 Jun. PMID 10411623
    3. Establishment of culture systems of human gastric epithelium for the study of pepsinogen and gastric lipase synthesis and secretion. Basque JR, et al. Microsc Res Tech, 2000 Mar 1. PMID 10700046
    4. Gastric cancer cell lines as models to study human digestive functions. Basque JR, et al. J Cell Biochem, 2001 Mar 26. PMID 11241664
    5. Mechanisms of inhibition of triacylglycerol hydrolysis by human gastric lipase. Pafumi Y, et al. J Biol Chem, 2002 Aug 2. PMID 11940604

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. site-directed mutagenesis the role of three key residues (K4, E225, R229) involved in salt bridges stabilizing the lid domain that controls the access to the active site and is part of the interfacial recognition site. Their substitution has an impact on the pH-dependent activity of rHGL and its relative activities on medium and long chain triglycerides.
      Title: Constitutive expression of human gastric lipase in Pichia pastoris and site-directed mutagenesis of key lid-stabilizing residues.
    2. LIPFDGKA might serve as a potential possible biomarkers for diagnosis of gastric cancer, and their downregulation may bring new perspective into the investigation of gastric cancer prognosis
      Title: Decreased LIPF expression is correlated with DGKA and predicts poor outcome of gastric cancer.
    3. In patients with intrahepatic cholestasis of pregnancy, there was no elevation in LIPF mRNA in maternal circulation compared with controls.
      Title: Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4 Genes Are Not Detectable in Circulating Maternal Plasma.
    4. Recombinant human gastric lipase (hGL) was transiently expressed in Nicotiana benthamiana leaves using the CPMV-HT expression system.
      Title: Expression of active recombinant human gastric lipase in Nicotiana benthamiana using the CPMV-HT transient expression system.
    5. insights into the domain movements
      Title: Molecular dynamics simulations of human and dog gastric lipases: insights into domain movements.
    6. down-regulated KLF4, CHGA, GPX3, SST and LIPF, together with up-regulated SERPINH1, THY1 and INHBA is an 8-gene signature for gastric cancer
      Title: An 8-gene signature, including methylated and down-regulated glutathione peroxidase 3, of gastric cancer.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A common haplotype in NAPEPLD is associated with severe obesity in a Norwegian population-based cohort (the HUNT study).
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Genetic correlates of olanzapine-induced weight gain in schizophrenia subjects from north India: role of metabolic pathway genes.
    10. identidfied the cap and the lid residues involved in the binding with the lipidic substrate
      Title: Importance of the lid and cap domains for the catalytic activity of gastric lipases.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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)

    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

    • MGC138477, MGC142271

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables malate dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables triacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables triacylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables triacylglycerol lipase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in malate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in triglyceride metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gastric triacylglycerol lipase
    Names
    gastric lipase
    lipase, gastric
    NP_001185757.1
    NP_001185758.1
    NP_001185759.1
    NP_004181.1
    XP_011538613.1
    XP_054223025.1

    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.

    mRNA and Protein(s)

    1. NM_001198828.2 → NP_001185757.1  gastric triacylglycerol lipase isoform 3 precursor

      See identical proteins and their annotated locations for NP_001185757.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AK301310, BM797485
      Consensus CDS
      CCDS55719.1
      UniProtKB/TrEMBL
      Q53F21
      Related
      ENSP00000477140.1, ENST00000608620.5
      Conserved Domains (2) summary
      PLN02872
      Location:4 → 357
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:35 → 82
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

    2. NM_001198829.2 → NP_001185758.1  gastric triacylglycerol lipase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK301320, BM797485, X05997
      Consensus CDS
      CCDS55718.1
      UniProtKB/TrEMBL
      Q53F21
      Related
      ENSP00000377900.3, ENST00000394375.7
      Conserved Domains (3) summary
      PLN02872
      Location:14 → 400
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:45 → 107
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:88 → 211
      Abhydrolase_5; Alpha/beta hydrolase family

    3. NM_001198830.2 → NP_001185759.1  gastric triacylglycerol lipase isoform 4 precursor

      See identical proteins and their annotated locations for NP_001185759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (4) lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AL833751, BP341513
      Consensus CDS
      CCDS65896.1
      UniProtKB/TrEMBL
      Q53F21
      Related
      ENSP00000348101.3, ENST00000355843.2
      Conserved Domains (2) summary
      PLN02872
      Location:14 → 367
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:45 → 92
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

    4. NM_004190.4 → NP_004181.1  gastric triacylglycerol lipase isoform 2 precursor

      See identical proteins and their annotated locations for NP_004181.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      BM797485, BP341513, X05997
      Consensus CDS
      CCDS7389.1
      UniProtKB/Swiss-Prot
      B7Z723, F5H1P4, P07098, Q2M1P6, Q5VXI7, Q5VXI8, Q658L8
      UniProtKB/TrEMBL
      Q53F21
      Related
      ENSP00000238983.5, ENST00000238983.9
      Conserved Domains (3) summary
      PLN02872
      Location:4 → 390
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:35 → 97
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:78 → 201
      Abhydrolase_5; Alpha/beta hydrolase family

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      88664442..88678814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540311.2 → XP_011538613.1  gastric triacylglycerol lipase isoform X1

      See identical proteins and their annotated locations for XP_011538613.1

      UniProtKB/Swiss-Prot
      B7Z723, F5H1P4, P07098, Q2M1P6, Q5VXI7, Q5VXI8, Q658L8
      UniProtKB/TrEMBL
      Q53F21
      Conserved Domains (3) summary
      PLN02872
      Location:4 → 390
      PLN02872; triacylglycerol lipase
      pfam04083
      Location:35 → 97
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:78 → 201
      Abhydrolase_5; Alpha/beta hydrolase family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      89548553..89562923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367050.1 → XP_054223025.1  gastric triacylglycerol lipase isoform X1

      UniProtKB/Swiss-Prot
      B7Z723, F5H1P4, P07098, Q2M1P6, Q5VXI7, Q5VXI8, Q658L8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07098.1 GenPept UniProtKB/Swiss-Prot:P07098

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