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

Gene ID: 60526, updated on 2-Nov-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 sterol ester esterase activity. Involved in cholesterol homeostasis and intracellular triglyceride homeostasis. Acts upstream of with a positive effect on lipid droplet fusion. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Nov 2024]
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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See LDAH in Genome Data Viewer
Location:
2p24.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (20682489..20823101, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20711570..20856339, complement)
RS_2024_09 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 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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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)

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 ester esterase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular triglyceride homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_positive_effect lipid droplet fusion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 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
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
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 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_2024_08

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

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