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 different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] See more...

Aliases for HYI Gene

Aliases for HYI Gene

  • Hydroxypyruvate Isomerase (Putative) 2 3 5
  • Endothelial Cell Apoptosis Protein E-CE1 3 4
  • Putative Hydroxypyruvate Isomerase 3 4
  • HT036 2 3
  • Hydroxypyruvate Isomerase Homolog (E. Coli) 2
  • Hydroxypyruvate Isomerase Homolog 3
  • EC 5.3.1.22 4
  • HYI 5

External Ids for HYI Gene

Previous GeneCards Identifiers for HYI Gene

  • GC01M043586
  • GC01M043689
  • GC01M043916
  • GC01M042035

Summaries for HYI Gene

Entrez Gene Summary for HYI 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 different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for HYI Gene

HYI (Hydroxypyruvate Isomerase (Putative)) is a Protein Coding gene. Diseases associated with HYI include Hydrolethalus Syndrome 1 and Arthrogryposis, Renal Dysfunction, And Cholestasis 1. Among its related pathways are Glyoxylate and dicarboxylate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydroxypyruvate isomerase activity.

UniProtKB/Swiss-Prot Summary for HYI Gene

  • Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HYI Gene

Genomics for HYI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HYI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HYI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HYI

Top Transcription factor binding sites by QIAGEN in the HYI gene promoter:
  • AML1a
  • ARP-1
  • Egr-1
  • GATA-1
  • IRF-2
  • ITF-2
  • Max
  • Olf-1
  • Tal-1beta
  • XBP-1

Genomic Locations for HYI Gene

Genomic Locations for HYI Gene
chr1:43,450,607-43,454,241
(GRCh38/hg38)
Size:
3,635 bases
Orientation:
Minus strand
chr1:43,916,824-43,919,660
(GRCh37/hg19)
Size:
2,837 bases
Orientation:
Minus strand

Genomic View for HYI Gene

Genes around HYI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HYI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYI Gene

Proteins for HYI Gene

  • Protein details for HYI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T013-HYI_HUMAN
    Recommended name:
    Putative hydroxypyruvate isomerase
    Protein Accession:
    Q5T013
    Secondary Accessions:
    • D3DPX4
    • D3DPX5
    • Q5Q9A2
    • Q7Z778
    • Q96S83
    • Q9BZR3
    • Q9BZR4

    Protein attributes for HYI Gene

    Size:
    277 amino acids
    Molecular mass:
    30406 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH06140.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH19041.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAV84474.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for HYI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HYI Gene

Post-translational modifications for HYI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HYI Gene

Domains & Families for HYI Gene

Gene Families for HYI Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HYI Gene

Suggested Antigen Peptide Sequences for HYI Gene

GenScript: Design optimal peptide antigens:
  • Endothelial cell apoptosis protein E-CE1 (HYI_HUMAN)
  • cDNA FLJ38925 fis, clone NT2NE2012243, highly similar to Homo sapiens hydroxypyruvate isomerase homolog (E. coli) (HYI), mRNA (Q5T017_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T013

UniProtKB/Swiss-Prot:

HYI_HUMAN :
  • Belongs to the hyi family.
Family:
  • Belongs to the hyi family.
genes like me logo Genes that share domains with HYI: view

Function for HYI Gene

Molecular function for HYI Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-hydroxypyruvate = 2-hydroxy-3-oxopropanoate; Xref=Rhea:RHEA:11952, ChEBI:CHEBI:17180, ChEBI:CHEBI:57978; EC=5.3.1.22;.
UniProtKB/Swiss-Prot Induction:
Up-regulated by exposure to 7,8-Dihydroxy-9,10-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene (BPDE) after which is found in the culture medium of amniotic epithelial cells.

Enzyme Numbers (IUBMB) for HYI Gene

Phenotypes From GWAS Catalog for HYI Gene

Gene Ontology (GO) - Molecular Function for HYI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
GO:0008903 hydroxypyruvate isomerase activity IEA,IBA 21873635
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with HYI: view
genes like me logo Genes that share phenotypes with HYI: view

Animal Model Products

CRISPR Products

miRNA for HYI Gene

miRTarBase miRNAs that target HYI

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HYI

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HYI Gene

Localization for HYI Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HYI gene
Compartment Confidence
cytosol 3
plasma membrane 2
nucleus 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HYI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with HYI: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HYI Gene

Pathways & Interactions for HYI Gene

PathCards logo

SuperPathways for HYI Gene

genes like me logo Genes that share pathways with HYI: view

Pathways by source for HYI Gene

Gene Ontology (GO) - Biological Process for HYI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0046487 glyoxylate metabolic process IBA 21873635
genes like me logo Genes that share ontologies with HYI: view

No data available for SIGNOR curated interactions for HYI Gene

Drugs & Compounds for HYI Gene

(1) Drugs for HYI Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxypyruvic acid Experimental Pharma 0

(1) Additional Compounds for HYI Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Tartronate semialdehyde
  • 2-Hydroxy-3-oxopropanoate
  • 2-Hydroxy-3-oxopropanoic acid
  • Tartronic acid semialdehyde
  • Hydroxymalonaldehydic acid
  • Tartronic semialdehyde
genes like me logo Genes that share compounds with HYI: view

Transcripts for HYI Gene

mRNA/cDNA for HYI Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HYI

Alternative Splicing Database (ASD) splice patterns (SP) for HYI Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - - -
SP6: - - -
SP7: -
SP8: -

Relevant External Links for HYI Gene

GeneLoc Exon Structure for
HYI

Expression for HYI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HYI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HYI Gene

This gene is overexpressed in Seminal vesicle (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HYI Gene



Protein tissue co-expression partners for HYI Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HYI

SOURCE GeneReport for Unigene cluster for HYI Gene:

Hs.709864

Evidence on tissue expression from TISSUES for HYI Gene

  • Nervous system(4.4)
  • Liver(4.4)
  • Kidney(4.4)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with HYI: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HYI Gene

Orthologs for HYI Gene

This gene was present in the common ancestor of animals.

Orthologs for HYI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HYI 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HYI 30 31
  • 88.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hyi 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hyi 30
  • 86.28 (n)
Cow
(Bos Taurus)
Mammalia HYI 30 31
  • 80.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HYI 31
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HYI 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HYI 30 31
  • 71.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HYI 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hyi 30
  • 59.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii hyi 30 31
  • 63.04 (n)
OneToOne
zgc63850 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003099 30
  • 51.47 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Gip 30 31
  • 46.51 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C05D11.5 30 31
  • 45.82 (n)
OneToOne
Species where no ortholog for HYI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HYI Gene

ENSEMBL:
Gene Tree for HYI (if available)
TreeFam:
Gene Tree for HYI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HYI: view image

Paralogs for HYI Gene

No data available for Paralogs for HYI Gene

Variants for HYI Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HYI Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
721603 Likely Benign: not provided 43,451,250(-) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
783286 Benign: not provided 43,451,427(-) C/G SPLICE_DONOR_VARIANT,MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs111686948 Likely Benign: not provided 43,451,930(-) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs141158872 Likely Benign: not provided 43,453,395(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs62620015 Likely Benign: not provided 43,451,268(-) A/C MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for HYI Gene

Structural Variations from Database of Genomic Variants (DGV) for HYI Gene

Variant ID Type Subtype PubMed ID
nsv438377 CNV loss 16468122
nsv527798 CNV loss 19592680
nsv546128 CNV loss 21841781
nsv950701 CNV deletion 24416366

Variation tolerance for HYI Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HYI Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HYI

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HYI Gene

Disorders for HYI Gene

MalaCards: The human disease database

(2) MalaCards diseases for HYI Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search HYI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HYI

genes like me logo Genes that share disorders with HYI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HYI Gene

Publications for HYI Gene

  1. Low concentration of anti-7,8-dihydroxy-9,10-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene induces alterations of extracellular protein profile of exposed epithelial cells. (PMID: 19722193) Liu H … Yu Y (Proteomics 2009) 4 23
  2. Biochemical evidence that Escherichia coli hyi (orf b0508, gip) gene encodes hydroxypyruvate isomerase. (PMID: 10561547) Ashiuchi M … Misono H (Biochimica et biophysica acta 1999) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3

Products for HYI Gene

Sources for HYI Gene