Gene Gene information from NCBI Gene database.
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 miRNA information provided by mirtarbase database.
12
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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 Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619128 26948 ENSG00000178922
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glyoxylate and dicarboxylate metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs79439514 RCV005913120
Adrenocortical carcinoma, hereditary Benign rs79439514 RCV005913124
Cervical cancer Likely benign; Benign rs111686948, rs79439514 RCV005901040
RCV005913125
Clear cell carcinoma of kidney Likely benign; Benign rs111686948, rs79439514 RCV005901041
RCV005913127
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 38022651
Endometrial Neoplasms Associate 35937391