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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
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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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ22761, FLJ37767, MGC125688

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables D-glucose binding IEA
Inferred from Electronic Annotation
more info
 
enables fructokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glucokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glucokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glucose 6-phosphate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glycolytic process IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intracellular glucose homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 

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)

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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_025130.4NP_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:26462
    PLN02914; hexokinase
    PTZ00107
    Location:466907
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:21219
    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_011540195.3XP_011538497.1  hexokinase HKDC1 isoform X1

    UniProtKB/TrEMBL
    A8K4Q9
    Conserved Domains (3) summary
    PLN02914
    Location:26462
    PLN02914; hexokinase
    pfam00349
    Location:469666
    Hexokinase_1
    pfam03727
    Location:672738
    Hexokinase_2
  2. XM_047425784.1XP_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_054366800.1XP_054222775.1  hexokinase HKDC1 isoform X1

    UniProtKB/TrEMBL
    A8K4Q9

RNA

  1. XR_008488267.1 RNA Sequence