HYI (hydroxypyruvate isomerase (putative))

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81888
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxypyruvate isomerase (putative)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HYI
Synonyms (NCBI Gene) Gene synonyms aliases
HT036
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
619128 26948 ENSG00000178922
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Glyoxylate and dicarboxylate metabolism
Metabolic pathways 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 38022651
Endometrial Neoplasms Associate 35937391