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    Ldah lipid droplet associated hydrolase [ Mus musculus (house mouse) ]

    Gene ID: 68832, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ldahprovided by MGI
    Official Full Name
    lipid droplet associated hydrolaseprovided by MGI
    Primary source
    MGI:MGI:1916082
    See related
    Ensembl:ENSMUSG00000037669 AllianceGenome:MGI:1916082
    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
    mLDAH; 1110057K04Rik
    Summary
    Enables sterol ester esterase activity. Involved in cholesterol homeostasis; intracellular triglyceride homeostasis; and lipid droplet fusion. Located in lipid droplet. Is expressed in brain; brown fat; colon; small intestine; and testis. Orthologous to human LDAH (lipid droplet associated hydrolase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 10.8), large intestine adult (RPKM 7.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ldah in Genome Data Viewer
    Location:
    12 A1.1; 12 3.85 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (8258095..8350811)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (8208095..8300811)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53751 Neighboring gene apolipoprotein B Neighboring gene STARR-seq mESC enhancer starr_31489 Neighboring gene predicted gene, 33037 Neighboring gene STARR-seq mESC enhancer starr_31490 Neighboring gene STARR-seq mESC enhancer starr_31491 Neighboring gene STARR-seq mESC enhancer starr_31492 Neighboring gene STARR-positive B cell enhancer ABC_E8885 Neighboring gene STARR-seq mESC enhancer starr_31493 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:8320448-8320557 Neighboring gene STARR-positive B cell enhancer mm9_chr12:8333629-8333930 Neighboring gene growth differentiation factor 7 Neighboring gene HCLS1 binding protein 3 Neighboring gene STARR-seq mESC enhancer starr_31498 Neighboring gene predicted gene, 48071 Neighboring gene predicted gene, 33134

    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. Mice lacking lipid droplet-associated hydrolase, a gene linked to human prostate cancer, have normal cholesterol ester metabolism. Kory N, et al. J Lipid Res, 2017 Jan. PMID 27836991, Free PMC Article
    2. Loss of LDAH associated with prostate cancer and hearing loss. Currall BB, et al. Hum Mol Genet, 2018 Dec 15. PMID 30169630, Free PMC Article
    3. Lipid Droplet-Associated Hydrolase Promotes Lipid Droplet Fusion and Enhances ATGL Degradation and Triglyceride Accumulation. Goo YH, et al. Sci Rep, 2017 Jun 2. PMID 28578400, Free PMC Article
    4. Novel lipid droplet-associated serine hydrolase regulates macrophage cholesterol mobilization. Goo YH, et al. Arterioscler Thromb Vasc Biol, 2014 Feb. PMID 24357060, Free PMC Article
    5. The evolutionarily conserved protein CG9186 is associated with lipid droplets, required for their positioning and for fat storage. Thiel K, et al. J Cell Sci, 2013 May 15. PMID 23525007, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We then amassed convergent genomic evidence showing population level associations between LDAHexpression and occurrence of prostate cancer . We further identified loss of LDAH in both tissues and cell lines derived from human prostate cancer, and generated Ldah-/- mouse model, which recapitulated many of the clinical findings in DGAP056.
      Title: Loss of LDAH associated with prostate cancer and hearing loss.
    2. Our data suggest that LDAH is not a major cholesterol ester hydrolase, and an alternative metabolic function may be responsible for its possible effect on development of prostate cancer.
      Title: Mice lacking lipid droplet-associated hydrolase, a gene linked to human prostate cancer, have normal cholesterol ester metabolism.
    3. The data identify LDAH a candidate target to promote reverse cholesterol transport from atherosclerotic lesions.
      Title: Novel lipid droplet-associated serine hydrolase regulates macrophage cholesterol mobilization.
    4. this study identified a novel lipid droplets -associated protein family, represented by the Drosophila protein CG9186 and its murine homolog MGI:1916082.
      Title: The evolutionarily conserved protein CG9186 is associated with lipid droplets, required for their positioning and for fat storage.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 MGI

    Function Evidence Code Pubs
    enables sterol ester esterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in foam cell differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular triglyceride homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lipid droplet fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_positive_effect lipid droplet fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_positive_effect lipid droplet fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid storage IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid storage IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lipid droplet ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    lipid droplet-associated hydrolase
    Names
    LD-associated hydrolase
    UPF0554 protein C2orf43 homolog
    lipid droplet-associated serine hydrolase
    NP_001161239.1
    NP_001161240.1
    NP_001351189.1
    NP_001351190.1
    NP_765989.3
    XP_006515264.2
    XP_006515265.2
    XP_030102758.1

    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_001167767.2 → NP_001161239.1  lipid droplet-associated hydrolase isoform 2

      See identical proteins and their annotated locations for NP_001161239.1

      Status: VALIDATED

      Source sequence(s)
      AC122860, AI746795, BC057311
      Consensus CDS
      CCDS49023.1
      UniProtKB/TrEMBL
      A0A0F6AIX6
      Related
      ENSMUSP00000129424.2, ENSMUST00000169104.3
      Conserved Domains (1) summary
      cl21494
      Location:43 → 236
      Abhydrolase; alpha/beta hydrolases

    2. NM_001167768.2 → NP_001161240.1  lipid droplet-associated hydrolase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK162914, AW049235, BB168827, BB626438
      Consensus CDS
      CCDS88307.1
      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Related
      ENSMUSP00000151612.2, ENSMUST00000218086.2
      Conserved Domains (1) summary
      pfam10230
      Location:43 → 266
      DUF2305; uncharacterized conserved protein (DUF2305)

    3. NM_001364260.1 → NP_001351189.1  lipid droplet-associated hydrolase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122860
      Consensus CDS
      CCDS25798.1
      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Conserved Domains (1) summary
      pfam10230
      Location:43 → 304
      LIDHydrolase; Lipid-droplet associated hydrolase

    4. NM_001364261.1 → NP_001351190.1  lipid droplet-associated hydrolase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122860
      Consensus CDS
      CCDS25798.1
      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Conserved Domains (1) summary
      pfam10230
      Location:43 → 304
      LIDHydrolase; Lipid-droplet associated hydrolase

    5. NM_172401.5 → NP_765989.3  lipid droplet-associated hydrolase isoform 1

      See identical proteins and their annotated locations for NP_765989.3

      Status: VALIDATED

      Source sequence(s)
      AC122860
      Consensus CDS
      CCDS25798.1
      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Related
      ENSMUSP00000042285.6, ENSMUST00000037383.13
      Conserved Domains (1) summary
      pfam10230
      Location:43 → 304
      LIDHydrolase; Lipid-droplet associated hydrolase

    RNA

    1. NR_157106.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122860

    2. NR_157107.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122860, AK076460

    3. NR_157108.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122860, AK086717
      Related
      ENSMUST00000219043.2

    4. NR_157109.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122860, AK162850
      Related
      ENSMUST00000219058.2

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      8258095..8350811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246898.2 → XP_030102758.1  lipid droplet-associated hydrolase isoform X1

      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Conserved Domains (1) summary
      pfam10230
      Location:48 → 256
      LIDHydrolase; Lipid-droplet associated hydrolase

    2. XM_006515202.3 → XP_006515265.2  lipid droplet-associated hydrolase isoform X2

      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Conserved Domains (1) summary
      pfam10230
      Location:43 → 263
      LIDHydrolase; Lipid-droplet associated hydrolase

    3. XM_006515201.5 → XP_006515264.2  lipid droplet-associated hydrolase isoform X1

      UniProtKB/Swiss-Prot
      A0A0F6AIX5, A0A1W2P7C8, Q3TRE7, Q5RL52, Q6PG15, Q8BVA5, Q8BVV0
      Conserved Domains (1) summary
      pfam10230
      Location:48 → 256
      LIDHydrolase; Lipid-droplet associated hydrolase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BVA5.1 GenPept UniProtKB/Swiss-Prot:Q8BVA5

    Gene LinkOut

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

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