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    LDAH lipid droplet associated hydrolase [ Homo sapiens (human) ]

    Gene ID: 60526, updated on 3-Apr-2024

    Summary

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    Official Symbol
    LDAHprovided by HGNC
    Official Full Name
    lipid droplet associated hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:26145
    See related
    Ensembl:ENSG00000118961 MIM:613570; AllianceGenome:HGNC:26145
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hLDAH; C2orf43
    Summary
    Predicted to enable lipase activity. Predicted to be involved in lipid storage. Predicted to be located in endoplasmic reticulum. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 4.0), urinary bladder (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p24.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (20682489..20823101, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20711570..20856339, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20883791..21022861, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20850539-20851276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20865647-20866477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20869955-20870900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15403 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:20893576-20893760 Neighboring gene growth differentiation factor 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:21021737-21022562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15408 Neighboring gene long intergenic non-protein coding RNA 2850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:21211745-21212246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:21212247-21212746 Neighboring gene APOB 3' scaffold/matrix attachment region Neighboring gene APOB 5' regulatory region Neighboring gene apolipoprotein B

    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
    • 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. Roles and origins of leukocyte lipid bodies: proteomic and ultrastructural studies. Wan HC, et al. FASEB J, 2007 Jan. PMID 17135363, 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. Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. Shen H, et al. Arch Intern Med, 2010 Nov 8. PMID 21059979, 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. Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population. Long QZ, et al. PLoS One, 2012. PMID 22662242, Free PMC Article

    See all (17) 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. The data identify lipid droplet-associated serine hydrolase (LDAH) a candidate target to promote reverse cholesterol transport from atherosclerotic lesions.
      Title: Novel lipid droplet-associated serine hydrolase regulates macrophage cholesterol mobilization.
    3. Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations
      Title: Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ11610, FLJ21820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sterol esterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid storage IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    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
    UPF0554 protein C2orf43
    lipid droplet-associated serine hydrolase
    NP_001269648.1
    NP_001269649.1
    NP_001269650.1
    NP_001269651.1
    NP_001269652.1
    NP_001269653.1
    NP_068744.1
    XP_011531316.1
    XP_047301335.1
    XP_054199258.1
    XP_054199259.1

    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_001282719.2 → NP_001269648.1  lipid droplet-associated hydrolase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC012065, AC012361, AK299555, AW243875
      Consensus CDS
      CCDS74488.1
      UniProtKB/TrEMBL
      A0A0A0MSH6, B4DS38
      Related
      ENSP00000388635.3, ENST00000435420.6
      Conserved Domains (1) summary
      pfam10230
      Location:58 → 261
      DUF2305; uncharacterized conserved protein (DUF2305)

    2. NM_001282720.2 → NP_001269649.1  lipid droplet-associated hydrolase isoform c

      See identical proteins and their annotated locations for NP_001269649.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AC012065, AC012361, AK316310, AW243875
      Consensus CDS
      CCDS62865.1
      UniProtKB/TrEMBL
      B4DS38
      Related
      ENSP00000487592.1, ENST00000626491.2
      Conserved Domains (1) summary
      pfam10230
      Location:52 → 255
      DUF2305; uncharacterized conserved protein (DUF2305)

    3. NM_001282721.2 → NP_001269650.1  lipid droplet-associated hydrolase isoform d

      See identical proteins and their annotated locations for NP_001269650.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame translational start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform d.
      Source sequence(s)
      AC012065, AK316162, AW243875, DC421670
      Consensus CDS
      CCDS62864.1
      UniProtKB/TrEMBL
      B5MCU4
      Related
      ENSP00000440570.1, ENST00000541941.5
      Conserved Domains (1) summary
      cl21494
      Location:1 → 173
      Abhydrolase; alpha/beta hydrolases

    4. NM_001282722.2 → NP_001269651.1  lipid droplet-associated hydrolase isoform d

      See identical proteins and their annotated locations for NP_001269651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame translational start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform d.
      Source sequence(s)
      AC012065, AK316204, AW243875
      Consensus CDS
      CCDS62864.1
      UniProtKB/TrEMBL
      B5MCU4
      Related
      ENSP00000483067.1, ENST00000619656.4
      Conserved Domains (1) summary
      cl21494
      Location:1 → 173
      Abhydrolase; alpha/beta hydrolases

    5. NM_001282723.2 → NP_001269652.1  lipid droplet-associated hydrolase isoform e

      See identical proteins and their annotated locations for NP_001269652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC012065, AK299244, AW243875, DC421670
      Consensus CDS
      CCDS74489.1
      UniProtKB/TrEMBL
      B4DRG3, B5MCE2, E7EMH0
      Related
      ENSP00000400340.2, ENST00000440866.6
      Conserved Domains (1) summary
      cl21494
      Location:43 → 154
      Abhydrolase; alpha/beta hydrolases

    6. NM_001282724.2 → NP_001269653.1  lipid droplet-associated hydrolase isoform f

      See identical proteins and their annotated locations for NP_001269653.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site and lacks an alternate exon in the 5' coding region, and lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (f) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC012065, AC012361, AK301493, AW243875
      UniProtKB/TrEMBL
      B4DWE2
      Conserved Domains (1) summary
      cl21494
      Location:58 → 112
      Abhydrolase; alpha/beta hydrolases

    7. NM_021925.4 → NP_068744.1  lipid droplet-associated hydrolase isoform a

      See identical proteins and their annotated locations for NP_068744.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC012065, AW243875, BC017473, DC421670
      Consensus CDS
      CCDS1702.1
      UniProtKB/Swiss-Prot
      B7ZA47, B7ZAJ5, D6W530, E7ESN0, Q53T37, Q53T58, Q9H6V9
      UniProtKB/TrEMBL
      B5MDU6
      Related
      ENSP00000237822.3, ENST00000237822.8
      Conserved Domains (2) summary
      COG0596
      Location:47 → 319
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam10230
      Location:43 → 303
      DUF2305; uncharacterized conserved protein (DUF2305)

    RNA

    1. NR_104233.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks an internal exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC012065, AK300494, AW243875, DC421670

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      20682489..20823101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533014.3 → XP_011531316.1  lipid droplet-associated hydrolase isoform X1

      See identical proteins and their annotated locations for XP_011531316.1

      UniProtKB/TrEMBL
      B5MDU6
      Conserved Domains (2) summary
      COG0596
      Location:58 → 325
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam10230
      Location:43 → 309
      DUF2305; uncharacterized conserved protein (DUF2305)

    2. XM_047445379.1 → XP_047301335.1  lipid droplet-associated hydrolase isoform X2

      Related
      ENSP00000385951.2, ENST00000402479.6

    RNA

    1. XR_007079565.1 RNA Sequence

    2. XR_007079563.1 RNA Sequence

    3. XR_001738874.2 RNA Sequence

    4. XR_001738878.3 RNA Sequence

    5. XR_007079569.1 RNA Sequence

    6. XR_007079568.1 RNA Sequence

    7. XR_007079567.1 RNA Sequence

    8. XR_007079566.1 RNA Sequence

    9. XR_007079564.1 RNA Sequence

    10. XR_001738877.3 RNA Sequence

    11. XR_001738876.3 RNA Sequence

    12. XR_007079562.1 RNA Sequence

    13. XR_939702.4 RNA Sequence

    14. XR_001738875.3 RNA Sequence

    15. XR_939701.3 RNA Sequence

    16. XR_939700.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      20711570..20856339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343283.1 → XP_054199258.1  lipid droplet-associated hydrolase isoform X1

    2. XM_054343284.1 → XP_054199259.1  lipid droplet-associated hydrolase isoform X2

    RNA

    1. XR_008486473.1 RNA Sequence

    2. XR_008486469.1 RNA Sequence

    3. XR_008486464.1 RNA Sequence

    4. XR_008486478.1 RNA Sequence

    5. XR_008486477.1 RNA Sequence

    6. XR_008486476.1 RNA Sequence

    7. XR_008486475.1 RNA Sequence

    8. XR_008486474.1 RNA Sequence

    9. XR_008486472.1 RNA Sequence

    10. XR_008486470.1 RNA Sequence

    11. XR_008486471.1 RNA Sequence

    12. XR_008486468.1 RNA Sequence

    13. XR_008486467.1 RNA Sequence

    14. XR_008486466.1 RNA Sequence

    15. XR_008486465.1 RNA Sequence

    16. XR_008486463.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6V9.1 GenPept UniProtKB/Swiss-Prot:Q9H6V9

    Gene LinkOut

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