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    HKDC1 hexokinase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 80201, updated on 10-Dec-2024

    Summary

    Official Symbol
    HKDC1provided by HGNC
    Official Full Name
    hexokinase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23302
    See related
    Ensembl:ENSG00000156510 MIM:617221; AllianceGenome:HGNC:23302
    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
    RP92
    Summary
    This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in duodenum (RPKM 22.5), small intestine (RPKM 21.3) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HKDC1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (69220332..69267552)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (70088688..70135592)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70980088..71027308)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene VPS26 retromer complex component A Neighboring gene ribosomal protein S12 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3486 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:70949649-70949852 Neighboring gene Suv3 like RNA helicase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2429 Neighboring gene uncharacterized LOC101928994 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16991 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3487 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16995 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:70991590-70992789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71007828-71008366 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:71016306-71016498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71050933-71051433 Neighboring gene hexokinase 1 Neighboring gene ribosomal protein S15a pseudogene 28 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71072583-71073084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71080772-71081688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71085561-71086169 Neighboring gene Sharpr-MPRA regulatory regions 12566 and 14132 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:71088623-71089424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71089425-71090226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71094713-71095639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71096837-71097524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71097525-71098210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71098899-71099584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71103173-71104026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2431 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71125753-71126258 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71126259-71126762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71136088-71136610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71136611-71137131 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71149651-71150373 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71150445-71151156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71176444-71177178 Neighboring gene tachykinin receptor 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1265 screens)

    Associated conditions

    Description Tests
    Retinitis pigmentosa 92
    MedGen: C5562022 OMIM: 619614 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of hexokinase domain containing 1 (HKDC1) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ22761, FLJ37767, MGC125688

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables D-glucose binding  
    enables fructokinase activity  
    enables glucokinase activity  
    enables glucokinase activity PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate phosphorylation  
    involved_in glucose 6-phosphate metabolic process  
    involved_in glucose 6-phosphate metabolic process PubMed 
    involved_in glucose metabolic process  
    involved_in glycolytic process  
    involved_in glycolytic process  
    involved_in intracellular glucose homeostasis  
    involved_in intracellular glucose homeostasis PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    is_active_in cytosol  
    located_in mitochondrial membrane  
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in photoreceptor inner segment  

    General protein information

    Preferred Names
    hexokinase HKDC1
    Names
    hexokinase domain-containing protein 1
    putative hexokinase HKDC1
    NP_079406.4
    XP_011538497.1
    XP_047281740.1
    XP_054222775.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_051555.2 RefSeqGene

      Range
      5002..52222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025130.4 → NP_079406.4  hexokinase HKDC1

      Status: REVIEWED

      Source sequence(s)
      AL596223
      Consensus CDS
      CCDS7288.1
      UniProtKB/Swiss-Prot
      B5MDN9, Q2TB90, Q2TB91, Q5VTC7, Q7Z373, Q8WU37, Q96EH2, Q9H5Y9
      UniProtKB/TrEMBL
      A8K4Q9
      Related
      ENSP00000346643.5, ENST00000354624.6
      Conserved Domains (3) summary
      PLN02914
      Location:26 → 462
      PLN02914; hexokinase
      PTZ00107
      Location:466 → 907
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:21 → 219
      Hexokinase_1

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      69220332..69267552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540195.3 → XP_011538497.1  hexokinase HKDC1 isoform X1

      UniProtKB/TrEMBL
      A8K4Q9
      Conserved Domains (3) summary
      PLN02914
      Location:26 → 462
      PLN02914; hexokinase
      pfam00349
      Location:469 → 666
      Hexokinase_1
      pfam03727
      Location:672 → 738
      Hexokinase_2
    2. XM_047425784.1 → XP_047281740.1  hexokinase HKDC1 isoform X2

      UniProtKB/TrEMBL
      B4E0J9

    RNA

    1. XR_007061989.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      70088688..70135592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366800.1 → XP_054222775.1  hexokinase HKDC1 isoform X1

      UniProtKB/TrEMBL
      A8K4Q9

    RNA

    1. XR_008488267.1 RNA Sequence

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