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    HYI hydroxypyruvate isomerase (putative) [ Homo sapiens (human) ]

    Gene ID: 81888, updated on 14-Nov-2024

    Summary

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    Official Symbol
    HYIprovided by HGNC
    Official Full Name
    hydroxypyruvate isomerase (putative)provided by HGNC
    Primary source
    HGNC:HGNC:26948
    See related
    Ensembl:ENSG00000178922 MIM:619128; AllianceGenome:HGNC:26948
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HT036
    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 different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in fat (RPKM 17.6), duodenum (RPKM 14.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See HYI in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43450607..43453931, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43320860..43324184, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43916660..43919602, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 783 Neighboring gene MED8 antisense RNA 1 Neighboring gene mediator complex subunit 8 Neighboring gene SZT2 subunit of KICSTOR complex Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43916604-43917491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43917492-43918378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 784 Neighboring gene SZT2 antisense RNA 1 Neighboring gene microRNA 6735 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43937485-43938684 Neighboring gene HYI antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43986941-43987441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43997400-43997972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43998601-43999102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43999103-43999602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44000549-44001411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44014162-44014968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44014969-44015773 Neighboring gene protein tyrosine phosphatase receptor type F Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44022869-44023446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44023447-44024024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44026337-44026914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44030770-44031565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44038483-44038984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44040406-44041268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44041269-44042129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44046933-44047754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44061284-44061784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44061785-44062285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44063935-44064436 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44086190-44086364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 788 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:44125453-44126129 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44126130-44126805 Neighboring gene uncharacterized LOC124904165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 921 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:44131983-44133182 Neighboring gene lysine demethylase 4A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Analysis of the binding domain of hydroxypyruvate isomerase homologues in hypertrophic scar fibroblasts]. Wang J, et al. Zhonghua Shao Shang Za Zhi, 2012 Feb. PMID 22490543
    2. Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107412
    3. Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin. Pope SN, et al. J Steroid Biochem Mol Biol, 2005 Feb. PMID 15862967
    4. Biochemical evidence that Escherichia coli hyi (orf b0508, gip) gene encodes hydroxypyruvate isomerase. Ashiuchi M, et al. Biochim Biophys Acta, 1999 Nov 16. PMID 10561547
    5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protein HYI may closely bind with protein P311 by an alpha helix in hypertrophic scar fibroblasts.
      Title: [Analysis of the binding domain of hydroxypyruvate isomerase homologues in hypertrophic scar fibroblasts].
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20767

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydroxypyruvate isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glyoxylate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative hydroxypyruvate isomerase
    Names
    endothelial cell apoptosis protein E-CE1
    hydroxypyruvate isomerase homolog
    NP_001177809.1
    NP_001230455.1
    NP_001317455.1
    NP_112484.3
    XP_006711000.1
    XP_047287296.1
    XP_047287298.1
    XP_054194908.1
    XP_054194909.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001190880.3 → NP_001177809.1  putative hydroxypyruvate isomerase isoform 3

      See identical proteins and their annotated locations for NP_001177809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains two alternate splice junctions compared to variant 5. The resulting isoform (3) contains an alternate internal segment and lacks another alternate internal segment compared to isoform 5.
      Source sequence(s)
      AI023272, AL583862, BC006140, BC019041, BM715679
      Consensus CDS
      CCDS53309.1
      UniProtKB/Swiss-Prot
      D3DPX4, D3DPX5, Q5Q9A2, Q5T013, Q7Z778, Q96S83, Q9BZR3, Q9BZR4
      UniProtKB/TrEMBL
      E7EWH8
      Related
      ENSP00000361507.4, ENST00000372430.9
      Conserved Domains (2) summary
      COG3622
      Location:3 → 266
      Hyi; Hydroxypyruvate isomerase [Carbohydrate transport and metabolism]
      pfam01261
      Location:24 → 230
      AP_endonuc_2; Xylose isomerase-like TIM barrel

    2. NM_001243526.2 → NP_001230455.1  putative hydroxypyruvate isomerase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate splice junction in the 3' end compared to variant 5. The resulting isoform (4) is shorter at the C-terminus compared to isoform 5.
      Source sequence(s)
      AI023272, AL583862, BC019041, BM715679, BM826556
      Consensus CDS
      CCDS72771.1
      UniProtKB/TrEMBL
      A0A0A0MTR5, E7EWH8
      Related
      ENSP00000461969.2, ENST00000583037.5
      Conserved Domains (2) summary
      COG3622
      Location:3 → 272
      Hyi; Hydroxypyruvate isomerase [Carbohydrate transport and metabolism]
      pfam01261
      Location:24 → 255
      AP_endonuc_2; Xylose isomerase-like TIM barrel

    3. NM_001330526.2 → NP_001317455.1  putative hydroxypyruvate isomerase isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
      Source sequence(s)
      AL583862
      Consensus CDS
      CCDS81313.1
      UniProtKB/TrEMBL
      E7EWH8, F6UJY1
      Related
      ENSP00000361511.1, ENST00000372434.5
      Conserved Domains (2) summary
      COG3622
      Location:3 → 291
      Hyi; Hydroxypyruvate isomerase [Carbohydrate transport and metabolism]
      pfam01261
      Location:24 → 255
      AP_endonuc_2; Xylose isomerase-like TIM barrel

    4. NM_031207.6 → NP_112484.3  putative hydroxypyruvate isomerase isoform 1

      See identical proteins and their annotated locations for NP_112484.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains two alternate splice junctions and lacks an alternate in-frame coding exon compared to variant 5. The resulting isoform (1) contains an alternate internal segment, lacks another alternate internal segment, and is shorter at the C-terminus compared to isoform 5.
      Source sequence(s)
      AI023272, AL583862, AY037165, BM715679
      Consensus CDS
      CCDS488.2
      UniProtKB/TrEMBL
      E7EWH8
      Related
      ENSP00000361509.1, ENST00000372432.5
      Conserved Domains (2) summary
      COG3622
      Location:3 → 247
      Hyi; Hydroxypyruvate isomerase [Carbohydrate transport and metabolism]
      pfam01261
      Location:24 → 230
      AP_endonuc_2; Xylose isomerase-like TIM barrel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43450607..43453931 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710937.4 → XP_006711000.1  putative hydroxypyruvate isomerase isoform X1

      UniProtKB/TrEMBL
      E7EWH8
      Conserved Domains (2) summary
      COG3622
      Location:3 → 272
      Hyi; Hydroxypyruvate isomerase [Carbohydrate transport and metabolism]
      pfam01261
      Location:24 → 255
      AP_endonuc_2; Xylose isomerase-like TIM barrel

    2. XM_047431340.1 → XP_047287296.1  putative hydroxypyruvate isomerase isoform X2

    3. XM_047431342.1 → XP_047287298.1  putative hydroxypyruvate isomerase isoform X3

      Related
      ENSP00000361510.1, ENST00000372433.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43320860..43324184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338933.1 → XP_054194908.1  putative hydroxypyruvate isomerase isoform X1

    2. XM_054338934.1 → XP_054194909.1  putative hydroxypyruvate isomerase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T013.2 GenPept UniProtKB/Swiss-Prot:Q5T013

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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