HYI (hydroxypyruvate isomerase (putative))

Gene

• Entrez ID: 81888
• Gene name: Hydroxypyruvate isomerase (putative)
• Gene symbol: HYI
• Synonyms (NCBI Gene): HT036
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023937	hsa-miR-1-3p	Proteomics	18668040
MIRT1057824	hsa-miR-1231	CLIP-seq
MIRT1057825	hsa-miR-1293	CLIP-seq
MIRT1057826	hsa-miR-3120-5p	CLIP-seq
MIRT1057827	hsa-miR-3612	CLIP-seq
MIRT1057828	hsa-miR-3622a-5p	CLIP-seq
MIRT1057829	hsa-miR-4443	CLIP-seq
MIRT1057830	hsa-miR-4483	CLIP-seq
MIRT1057831	hsa-miR-516b	CLIP-seq
MIRT1057832	hsa-miR-626	CLIP-seq
MIRT1057833	hsa-miR-650	CLIP-seq
MIRT1057834	hsa-miR-720	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 33961781
GO:0008903	Function	Hydroxypyruvate isomerase activity	IBA
GO:0008903	Function	Hydroxypyruvate isomerase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0046487	Process	Glyoxylate metabolic process	IBA

Other IDs

• MIM: 619128
• HGNC: 26948
• e!Ensembl: ENSG00000178922

Protein

• UniProt ID: Q5T013
• Protein name: Putative hydroxypyruvate isomerase (EC 5.3.1.22) (Endothelial cell apoptosis protein E-CE1)
• Protein function: Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01261	AP_endonuc_2	24 → 266	Xylose isomerase-like TIM barrel	Domain

• Sequence:

  MAPLRFSANLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLV
  LINTPPGDQEKGEMGLGAVPGRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIA
  VKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQAAAILQKVGRPN
  LQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDE
  GYKGFVGCEYQPRGDTVEGLSWLRSYWDRRGHPEAGQ

• Sequence length: 277

Pathways

KEGG:

Glyoxylate and dicarboxylate metabolism
Metabolic pathways

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
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38022651	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35937391	Associate	★☆☆☆☆ Found in Text Mining only