LDAH (lipid droplet associated hydrolase)

Gene

• Entrez ID: 60526
• Gene name: Lipid droplet associated hydrolase
• Gene symbol: LDAH
• Synonyms (NCBI Gene): C2orf43, hLDAH
• Chromosome: 2
• Chromosome location: 2p24.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004771	Function	Sterol ester esterase activity	IEA
GO:0004771	Function	Sterol ester esterase activity	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	28578400
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	28578400
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IEA
GO:0035356	Process	Intracellular triglyceride homeostasis	IEA
GO:0035356	Process	Intracellular triglyceride homeostasis	IMP	28578400
GO:0035356	Process	Intracellular triglyceride homeostasis	ISS
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	24357060
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0160077	Process	Lipid droplet fusion	IDA	28578400
GO:0160077	Process	Lipid droplet fusion	IEA
GO:0160077	Process	Lipid droplet fusion	ISS

Other IDs

• MIM: 613570
• HGNC: 26145
• e!Ensembl: ENSG00000118961

Protein

• UniProt ID: Q9H6V9
• Protein name: Lipid droplet-associated hydrolase (EC 3.1.1.13) (Lipid droplet-associated serine hydrolase) (hLDAH)
• Protein function: Probable serine lipid hydrolase associated with lipid droplets (By similarity). Has low cholesterol esterase activity (By similarity). Appears to lack triglyceride lipase activity (By similarity). Involved in cholesterol and triglyceride homeost
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10230	LIDHydrolase	43 → 303	Lipid-droplet associated hydrolase	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in macrophage-rich areas in atherosclerotic lesions (at protein level) (PubMed:24357060). Expressed in monocytes and monocyte-derived macrophages (at protein level) (PubMed:24357060). {ECO:0000269|PubMed:24357060}.
• Sequence:

  MDSELKEEIPVHEEFILCGGAETQVLKCGPWTDLFHDQSVKRPKLLIFIIPGNPGFSAFY
  VPFAKALYSLTNRRFPVWTISHAGHALAPKDKKILTTSEDSNAQEIKDIYGLNGQIEHKL
  AFLRTHVPKDMKLVLIGHSIGSYFTLQMLKRVPELPVIRAFLLFPTIERMSESPNGRIAT
  PLLCWFRYVLYVTGYLLLKPCPETIKSLLIRRGLQVMNLENEFSPLNILEPFCLANAAYL
  GGQEMMEVVKRDDETIKEHLCKLTFYYGTIDPWCPKEYYEDIKKDFPEGDIRLCEKNIPH
  AFITHFNQEMADMIADSLKDDLSKM

• Sequence length: 325

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL A BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35193936	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31882500	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26278503		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20676098, 22662242, 23803082, 27836991, 30169630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	20676098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	20676098		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20676098, 22662242, 23803082, 27836991, 30169630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	20676098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	20676098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21637794, 22056501, 22662242, 23803082, 24411283, 25371445, 26979803	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30169630		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26278503		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	35193936	Associate	★☆☆☆☆ Found in Text Mining only