HAGH (hydroxyacylglutathione hydrolase)

Gene

• Entrez ID: 3029
• Gene name: Hydroxyacylglutathione hydrolase
• Gene symbol: HAGH
• Synonyms (NCBI Gene): GLO2, GLO2D, GLX2, GLXII, HAGH1
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [pro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029772	hsa-miR-26b-5p	Microarray	19088304
MIRT047796	hsa-miR-30d-5p	CLASH	23622248
MIRT040597	hsa-miR-92b-3p	CLASH	23622248
MIRT1040553	hsa-miR-340	CLIP-seq
MIRT1040554	hsa-miR-3607-3p	CLIP-seq
MIRT1040555	hsa-miR-4282	CLIP-seq
MIRT1040556	hsa-miR-4446-3p	CLIP-seq
MIRT1040557	hsa-miR-4675	CLIP-seq
MIRT1040558	hsa-miR-4731-3p	CLIP-seq
MIRT1040559	hsa-miR-4741	CLIP-seq
MIRT1040560	hsa-miR-4753-3p	CLIP-seq
MIRT1040561	hsa-miR-4801	CLIP-seq
MIRT1040562	hsa-miR-586	CLIP-seq
MIRT1040563	hsa-miR-942	CLIP-seq
MIRT2008492	hsa-miR-4499	CLIP-seq
MIRT2008493	hsa-miR-4680-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004416	Function	Hydroxyacylglutathione hydrolase activity	IBA
GO:0004416	Function	Hydroxyacylglutathione hydrolase activity	IDA	8550579
GO:0004416	Function	Hydroxyacylglutathione hydrolase activity	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 32296183
GO:0005737	Component	Cytoplasm	IDA	15117945
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	15117945
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006749	Process	Glutathione metabolic process	IBA
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006750	Process	Glutathione biosynthetic process	IDA	8550579
GO:0016787	Function	Hydrolase activity	IEA
GO:0019243	Process	Methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 138760
• HGNC: 4805
• e!Ensembl: ENSG00000063854

Protein

• UniProt ID: Q16775
• Protein name: Hydroxyacylglutathione hydrolase, mitochondrial (EC 3.1.2.6) (Glyoxalase II) (Glx II)
• Protein function: Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.
• PDB: 1QH3, 1QH5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00753	Lactamase_B	57 → 139	Metallo-beta-lactamase superfamily	Domain
  PF16123	HAGH_C	222 → 303	Hydroxyacylglutathione hydrolase C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in liver and kidney. {ECO:0000269|PubMed:15117945}.
• Sequence:

  MVVGRGLLGRRSLAALGAACARRGLGPALLGVFCHTDLRKNLTVDEGTMKVEVLPALTDN
  YMYLVIDDETKEAAIVDPVQPQKVVDAARKHGVKLTTVLTTHHHWDHAGGNEKLVKLESG
  LKVYGGDDRIGALTHKITHLSTLQVGSLNVKCLATPCHTSGHICYFVSKPGGSEPPAVFT
  GDTLFVAGCGKFYEGTADEMCKALLEVLGRLPPDTRVYCGHEYTINNLKFARHVEPGNAA
  IREKLAWAKEKYSIGEPTVPSTLAEEFTYNPFMRVREKTVQQHAGETDPVTTMRAVRREK
  DQFKMPRD

• Sequence length: 308

Pathways

KEGG:

Pyruvate metabolism
Metabolic pathways

Reactome:

Pyruvate metabolism

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
GLYOXALASE II DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	16803681		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	16803681		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32427856	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	2111123	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24671236		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11368412		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39456676	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12204678		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	6746903	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	12204678		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	3458025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27696457, 28470764		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12204678, 28470764		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31428230		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	1285890		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27696457, 28470764		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18344682		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	3458025		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	30781346		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	30781346	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	2111123		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25645869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	25645869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations