Gene
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 16189514, 25416956
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
GO:0008903 Function Hydroxypyruvate isomerase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619128 26948 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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
26830138
Unknown
Disease term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 38022651
Endometrial Neoplasms Associate 35937391