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] See more...

Aliases for HKDC1 Gene

Aliases for HKDC1 Gene

  • Hexokinase Domain Containing 1 2 3 5
  • Hexokinase Domain-Containing Protein 1 3 4
  • Hexokinase HKDC1 3 4
  • EC 2.7.1.1 4 51
  • Putative Hexokinase HKDC1 3
  • FLJ37767 2
  • FLJ22761 2
  • EC 2.7.1 51
  • HKDC1 5

External Ids for HKDC1 Gene

Previous GeneCards Identifiers for HKDC1 Gene

  • GC10U900457
  • GC10P070651
  • GC10P070980
  • GC10P064980

Summaries for HKDC1 Gene

Entrez Gene Summary for HKDC1 Gene

  • 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]

GeneCards Summary for HKDC1 Gene

HKDC1 (Hexokinase Domain Containing 1) is a Protein Coding gene. Diseases associated with HKDC1 include Gestational Diabetes and Keratoconus 1. Among its related pathways are Glucose metabolism and Shigellosis. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucokinase activity. An important paralog of this gene is HK1.

UniProtKB/Swiss-Prot Summary for HKDC1 Gene

  • Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other hexokinases (PubMed:30517626). Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity).

Additional gene information for HKDC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HKDC1 Gene

Genomics for HKDC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HKDC1 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 HKDC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HKDC1

Top Transcription factor binding sites by QIAGEN in the HKDC1 gene promoter:
  • C/EBPbeta
  • COUP
  • COUP-TF
  • COUP-TF1
  • CUTL1
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • HNF-4alpha1

Genomic Locations for HKDC1 Gene

Genomic Locations for HKDC1 Gene
chr10:69,220,303-69,267,552
(GRCh38/hg38)
Size:
47,250 bases
Orientation:
Plus strand
chr10:70,980,059-71,027,315
(GRCh37/hg19)
Size:
47,257 bases
Orientation:
Plus strand

Genomic View for HKDC1 Gene

Genes around HKDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HKDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HKDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HKDC1 Gene

Proteins for HKDC1 Gene

  • Protein details for HKDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TB90-HKDC1_HUMAN
    Recommended name:
    Hexokinase HKDC1
    Protein Accession:
    Q2TB90
    Secondary Accessions:
    • B5MDN9
    • Q2TB91
    • Q5VTC7
    • Q7Z373
    • Q8WU37
    • Q96EH2
    • Q9H5Y9

    Protein attributes for HKDC1 Gene

    Size:
    917 amino acids
    Molecular mass:
    102545 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH21278.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15478.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for HKDC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HKDC1 Gene

Selected DME Specific Peptides for HKDC1 Gene

Q2TB90:
  • DIRTEFD
  • PDGTEKG
  • EWGAFGD
  • TMMTCGY
  • GFTFSFP
  • RAAQLCGAG
  • LYHMRLSD
  • GFTFSFPC
  • DGSGKGAA
  • LDLGGTNFRV
  • AMVTAVA
  • LFRGQISE
  • VNDTVGTMM
  • VGVDGTLYKLHP
  • TRGIFETKFLSQIESD
  • SLNPGKQ
  • IDLVEGDEGRMCINTEWGAFGDDG
  • GELVRLIL
  • LPLGFTFS
  • ALDLGGTN
  • ELFDHIVQCIADFL
  • VKMLPTFVR
  • SGMYLGEI

Post-translational modifications for HKDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HKDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HKDC1 Gene

Gene Families for HKDC1 Gene

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

Protein Domains for HKDC1 Gene

Suggested Antigen Peptide Sequences for HKDC1 Gene

GenScript: Design optimal peptide antigens:
  • Hexokinase domain-containing protein 1 (HKDC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2TB90

UniProtKB/Swiss-Prot:

HKDC1_HUMAN :
  • Belongs to the hexokinase family.
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with HKDC1: view

Function for HKDC1 Gene

Molecular function for HKDC1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other hexokinases (PubMed:30517626). Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+); Xref=Rhea:RHEA:22740, ChEBI:CHEBI:4194, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61567, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269|PubMed:30517626};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-glucose = ADP + D-glucose 6-phosphate + H(+); Xref=Rhea:RHEA:17825, ChEBI:CHEBI:4167, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61548, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269|PubMed:30517626};.

Enzyme Numbers (IUBMB) for HKDC1 Gene

Phenotypes From GWAS Catalog for HKDC1 Gene

Gene Ontology (GO) - Molecular Function for HKDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004340 glucokinase activity IBA,IDA 30517626
GO:0004396 hexokinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0005536 glucose binding IEA --
genes like me logo Genes that share ontologies with HKDC1: view
genes like me logo Genes that share phenotypes with HKDC1: view

Animal Models for HKDC1 Gene

MGI Knock Outs for HKDC1:
  • Hkdc1 Hkdc1<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for HKDC1

CRISPR Products

miRNA for HKDC1 Gene

miRTarBase miRNAs that target HKDC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HKDC1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HKDC1 Gene

Localization for HKDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HKDC1 Gene

Mitochondrion membrane. Peripheral membrane protein. Note=The mitochondrial-binding peptide (MBP) region promotes association with the mitochondrion. {ECO:0000305 PubMed:30517626}.

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 HKDC1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HKDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IEA,IDA 30517626
GO:0005829 cytosol IBA 21873635
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with HKDC1: view

Pathways & Interactions for HKDC1 Gene

genes like me logo Genes that share pathways with HKDC1: view

UniProtKB/Swiss-Prot Q2TB90-HKDC1_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.
  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.

Gene Ontology (GO) - Biological Process for HKDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IBA,IDA 30517626
GO:0005975 carbohydrate metabolic process IEA --
GO:0006096 glycolytic process IBA,IEA --
GO:0016310 phosphorylation IEA --
GO:0019318 hexose metabolic process IEA --
genes like me logo Genes that share ontologies with HKDC1: view

No data available for SIGNOR curated interactions for HKDC1 Gene

Drugs & Compounds for HKDC1 Gene

(10) Drugs for HKDC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Investigational, Vet_approved Pharma 0
Galactose Approved, Investigational Pharma 0
Glucosamine Approved, Investigational Pharma 88
Beta-D-Glucose Experimental Pharma 0
beta-D-glucose 6-phosphate Experimental Pharma 0

(4) Additional Compounds for HKDC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
L-Sorbose
  • D-lyxo-2-Hexulose
  • D-lyxo-Hex-2-ulose
  • D-Tag
  • lyxo-2-Hexulose
  • lyxo-Hexulose
53188-23-1, 87-79-6
genes like me logo Genes that share compounds with HKDC1: view

Transcripts for HKDC1 Gene

mRNA/cDNA for HKDC1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 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 HKDC1

Alternative Splicing Database (ASD) splice patterns (SP) for HKDC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - -
SP2: -
SP3:
SP4:

Relevant External Links for HKDC1 Gene

GeneLoc Exon Structure for
HKDC1

Expression for HKDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HKDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HKDC1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x15.6), Kidney - Cortex (x9.4), and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for HKDC1 Gene

This gene is overexpressed in Nasal epithelium (25.5), Brain (16.4), and Retina (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HKDC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HKDC1

SOURCE GeneReport for Unigene cluster for HKDC1 Gene:

Hs.522988

mRNA Expression by UniProt/SwissProt for HKDC1 Gene:

Q2TB90-HKDC1_HUMAN
Tissue specificity: Widely expressed (PubMed:27459389, PubMed:29401404). Highly expressed in the brush border, surface epithelium and the myenteric plexus of the small and large intestines; the acinar centrocytes and interlobular ducts of the pancreas; and the alveolar macrophages in the lungs (at protein level) (PubMed:29401404). Present at moderate level in the thyroid follicular epithelium (at protein level) (PubMed:29401404).

Evidence on tissue expression from TISSUES for HKDC1 Gene

  • Liver(4.5)
  • Eye(4.5)
  • Kidney(4.4)
  • Intestine(4.4)
  • Pancreas(2.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with HKDC1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HKDC1 Gene

Orthologs for HKDC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HKDC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HKDC1 30 31
  • 97.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HKDC1 30 31
  • 89.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HKDC1 30 31
  • 88.95 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HKDC1 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hkdc1 30 17 31
  • 86.76 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HKDC1 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HKDC1 30 31
  • 75.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HKDC1 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hkdc1 30
  • 71.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii hkdc1 30 31
  • 69.94 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hex-C 31
  • 40 (a)
ManyToMany
Hex-A 31
  • 38 (a)
ManyToMany
Hex-t2 31
  • 37 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F14B4.2 31
  • 44 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HXK1 31
  • 31 (a)
ManyToMany
HXK2 31 33
  • 30 (a)
ManyToMany
GLK1 31
  • 30 (a)
ManyToMany
EMI2 31
  • 30 (a)
ManyToMany
Rice
(Oryza sativa)
Liliopsida Os05g0187100 30
  • 50.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11095 31
  • 47 (a)
OneToMany
Species where no ortholog for HKDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 HKDC1 Gene

ENSEMBL:
Gene Tree for HKDC1 (if available)
TreeFam:
Gene Tree for HKDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HKDC1: view image

Paralogs for HKDC1 Gene

Paralogs for HKDC1 Gene

(5) SIMAP similar genes for HKDC1 Gene using alignment to 1 proteins:

  • HKDC1_HUMAN
genes like me logo Genes that share paralogs with HKDC1: view

Variants for HKDC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HKDC1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
709947 Benign: not provided 69,227,340(+) C/T MISSENSE_VARIANT
711536 Benign: not provided 69,265,789(+) G/C SYNONYMOUS_VARIANT
749344 Likely Benign: not provided 69,248,529(+) C/T SYNONYMOUS_VARIANT
774683 Benign: not provided 69,265,684(+) C/T SYNONYMOUS_VARIANT
rs148723879 Likely Pathogenic: Short stature 69,246,212(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HKDC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HKDC1 Gene

Variant ID Type Subtype PubMed ID
esv2407805 CNV deletion 18987734
esv2462035 CNV deletion 19546169
esv2738095 CNV deletion 23290073
esv3546471 CNV deletion 23714750
esv3686 CNV loss 18987735
esv3891855 CNV loss 25118596
esv6582 CNV loss 19470904
nsv1069495 CNV deletion 25765185
nsv1127119 CNV deletion 24896259
nsv1146775 CNV deletion 26484159
nsv508589 CNV deletion 20534489
nsv551452 CNV loss 21841781
nsv958335 CNV deletion 24416366

Variation tolerance for HKDC1 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.05; 87.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HKDC1 Gene

Human Gene Mutation Database (HGMD)
HKDC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HKDC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HKDC1 Gene

Disorders for HKDC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HKDC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gestational diabetes
  • gdm
keratoconus 1
  • ktcn1
keratoconus
  • conical cornea
diabetes mellitus
  • diabetes
attention deficit-hyperactivity disorder
  • adhd
- elite association - COSMIC cancer census association via MalaCards
Search HKDC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HKDC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HKDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HKDC1 Gene

Publications for HKDC1 Gene

  1. HKDC1 Is a Novel Hexokinase Involved in Whole-Body Glucose Use. (PMID: 27459389) Ludvik AE … Layden BT (Endocrinology 2016) 2 3 4
  2. Hepatic HKDC1 Expression Contributes to Liver Metabolism. (PMID: 30517626) Pusec CM … Layden BT (Endocrinology 2019) 3 4
  3. Studies on the Tissue Localization of HKDC1, a Putative Novel Fifth Hexokinase, in Humans. (PMID: 29401404) Khan MW … Layden BT (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2018) 3 4
  4. Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1. (PMID: 25648650) Guo C … Reddy TE (Nature communications 2015) 2 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for HKDC1 Gene

Sources for HKDC1 Gene