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    Liph lipase, member H [ Mus musculus (house mouse) ]

    Gene ID: 239759, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Liphprovided by MGI
    Official Full Name
    lipase, member Hprovided by MGI
    Primary source
    MGI:MGI:2388029
    See related
    Ensembl:ENSMUSG00000044626 AllianceGenome:MGI:2388029
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    P3; H06; lpd1; lpd2; Lpdlr; PLA1B; mPA-PLA1; D16Wsu119e; C130037N08Rik
    Summary
    Predicted to enable heparin binding activity; lipoprotein lipase activity; and phospholipase activity. Predicted to be involved in fatty acid biosynthetic process and triglyceride catabolic process. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. Is expressed in anal canal; epidermis; extraembryonic component; genitourinary system; and gut. Human ortholog(s) of this gene implicated in hypotrichosis 7. Orthologous to human LIPH (lipase H). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in placenta adult (RPKM 8.8), large intestine adult (RPKM 8.0) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 B1; 16 12.95 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (21772567..21814408, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (21953817..21995658, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 13 Neighboring gene proteasome (prosome, macropain) subunit, beta type 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40374 Neighboring gene transmembrane protein 41a Neighboring gene STARR-seq mESC enhancer starr_40375 Neighboring gene STARR-seq mESC enhancer starr_40377 Neighboring gene STARR-seq mESC enhancer starr_40378 Neighboring gene STARR-positive B cell enhancer ABC_E393 Neighboring gene STARR-seq mESC enhancer starr_40381 Neighboring gene SUMO/sentrin specific peptidase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit A11B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Lipase H, a new member of the triglyceride lipase family synthesized by the intestine. Jin W, et al. Genomics, 2002 Sep. PMID 12213196
    2. Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to chromosome 16 but is distinct from the lpd (lipid defect) locus. Wen XY, et al. Mamm Genome, 2001 Feb. PMID 11210182
    3. LPA-producing enzyme PA-PLA₁α regulates hair follicle development by modulating EGFR signalling. Inoue A, et al. EMBO J, 2011 Aug 19. PMID 21857648, Free PMC Article
    4. Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. Wen XY, et al. Hum Mol Genet, 2003 May 15. PMID 12719377
    5. Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism. Wen XY, et al. Hum Mol Genet, 1998 Apr. PMID 9499429

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Associated conditions

    Description Tests
    lipid defect 1
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1)  1 citation
    • Endonuclease-mediated (4) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carboxylic ester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heparin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipase activity ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    lipase member H
    Names
    lipase H
    NP_001077363.1
    NP_001276510.1
    NP_001276511.1
    NP_700453.1

    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_001083894.1 → NP_001077363.1  lipase member H isoform 1 precursor

      See identical proteins and their annotated locations for NP_001077363.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK134352, AK162492, BQ032777, BY118220
      Consensus CDS
      CCDS37296.1
      UniProtKB/Swiss-Prot
      Q3TRT3, Q3TTZ0, Q3UWA2, Q8BXB5, Q8CI45, Q8CIV3
      Related
      ENSMUSP00000062310.7, ENSMUST00000060673.8
      Conserved Domains (1) summary
      cd00707
      Location:41 → 310
      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_001289581.1 → NP_001276510.1  lipase member H isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites in the 5' UTR and coding region compared to variant 1. These differences cause translation initiation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK137278, BQ032777, CT030725
      Conserved Domains (1) summary
      cl21494
      Location:1 → 161
      Abhydrolase; alpha/beta hydrolases

    3. NM_001289582.1 → NP_001276511.1  lipase member H isoform 4 precursor

      See identical proteins and their annotated locations for NP_001276511.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AK048150, BQ032777, CT030725
      Consensus CDS
      CCDS88903.1
      UniProtKB/Swiss-Prot
      Q8CIV3
      Related
      ENSMUSP00000156378.2, ENSMUST00000231766.2
      Conserved Domains (1) summary
      cd00707
      Location:41 → 308
      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 ...

    4. NM_153404.3 → NP_700453.1  lipase member H isoform 2 precursor

      See identical proteins and their annotated locations for NP_700453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BQ032777, CT030725
      Consensus CDS
      CCDS37295.1
      UniProtKB/Swiss-Prot
      Q8CIV3
      Related
      ENSMUSP00000073853.5, ENSMUST00000074230.12
      Conserved Domains (1) summary
      cd00707
      Location:41 → 280
      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_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      21772567..21814408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004939190.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CIV3.2 GenPept UniProtKB/Swiss-Prot:Q8CIV3

    Gene LinkOut

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

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