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Aliases for HKDC1 Gene

Aliases for HKDC1 Gene

  • Hexokinase Domain Containing 1 2 3 5
  • EC 2.7.1.1 4 61
  • Hexokinase Domain-Containing Protein 1 4
  • EC 2.7.1 61

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. Among its related pathways are Type II diabetes mellitus and Galactose metabolism. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucokinase activity. An important paralog of this gene is HK1.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HKDC1 Gene

Genomics for HKDC1 Gene

Regulatory Elements for HKDC1 Gene

Enhancers for HKDC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G069213 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -4.2 -4235 5.3 PKNOX1 FOXA2 ARNT ZNF766 FOS ZNF263 SP3 ZNF592 SMARCA4 NBN HKDC1 LOC102723350 HK1 ENSG00000231748 TYSND1 SUPV3L1 SRGN VPS26A DDX21
GH10G069219 1.6 Ensembl ENCODE dbSUPER 15.6 +3.0 2968 7.5 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B DMAP1 ZNF2 ZNF766 FOS JUNB SUPV3L1 HKDC1 ENSG00000231748 HK1 LOC101928994
GH10G069227 1.5 Ensembl ENCODE dbSUPER 15 +9.2 9186 3.7 HDGF PKNOX1 MLX ARID4B YBX1 GATA2 ZNF263 SP5 JUNB TBX21 HKDC1 DDX21 ENSG00000231748 HK1 SUPV3L1 LOC101928994
GH10G069407 1.6 FANTOM5 ENCODE dbSUPER 10.9 +189.2 189243 3.8 PKNOX1 ARNT AGO1 ARID4B SIN3A ZNF2 ZNF766 ZNF143 KLF13 SP3 TACR2 HK1 HKDC1 ENSG00000231748 TSPAN15 SRGN VPS26A RPS15AP28
GH10G069315 1.7 FANTOM5 ENCODE dbSUPER 10.2 +98.4 98395 7.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 SIN3A ZNF2 ZNF207 FOS HK1 DDX21 ENSG00000231748 HKDC1 TYSND1 C10orf35 DDX50 RPS15AP28 TACR2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HKDC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HKDC1 Gene

Chromosome:
10
Start:
69,220,303 bp from pter
End:
69,267,559 bp from pter
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:
    Putative 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; Positions=457; Evidence={ECO:0000305}; Sequence=BAB15478.1; Type=Frameshift; Positions=345; 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

Protein Domains for HKDC1 Gene

Suggested Antigen Peptide Sequences for HKDC1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for HKDC1 Gene

Function for HKDC1 Gene

Molecular function for HKDC1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-hexose = ADP + D-hexose 6-phosphate.

Enzyme Numbers (IUBMB) for HKDC1 Gene

Gene Ontology (GO) - Molecular Function for HKDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004340 glucokinase activity IBA --
GO:0004396 hexokinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0005536 glucose binding IEA --
GO:0008865 fructokinase activity IBA --
genes like me logo Genes that share ontologies with HKDC1: view
genes like me logo Genes that share phenotypes with HKDC1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HKDC1

CRISPR Products

miRNA for HKDC1 Gene

miRTarBase miRNAs that target HKDC1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HKDC1

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

Localization for HKDC1 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 HKDC1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HKDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with HKDC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HKDC1 Gene

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.

Gene Ontology (GO) - Biological Process for HKDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IBA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006096 glycolytic process IBA --
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

(7) Drugs for HKDC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Glucosamine Approved Nutra 191
Beta-D-Glucose Experimental Pharma 0
beta-D-glucose 6-phosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
D-Galactose
  • (+)-Galactose
  • 5abp
  • 8abp
  • alpha D-Galactose
  • alpha-D-Galactopyranose
59-23-4
genes like me logo Genes that share compounds with HKDC1: view

Transcripts for HKDC1 Gene

Unigene Clusters for HKDC1 Gene

Hexokinase domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
HKDC1

Expression for HKDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for HKDC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of HKDC1 Gene:

HKDC1

SOURCE GeneReport for Unigene cluster for HKDC1 Gene:

Hs.522988

Evidence on tissue expression from TISSUES for HKDC1 Gene

  • Eye(4.5)
  • Liver(4.3)
  • Intestine(4.2)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with HKDC1: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt 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 34 35
  • 97.48 (n)
dog
(Canis familiaris)
Mammalia HKDC1 34 35
  • 89.35 (n)
cow
(Bos Taurus)
Mammalia HKDC1 34 35
  • 88.95 (n)
oppossum
(Monodelphis domestica)
Mammalia HKDC1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hkdc1 34 16 35
  • 86.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HKDC1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves HKDC1 34 35
  • 75.37 (n)
lizard
(Anolis carolinensis)
Reptilia HKDC1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hkdc1 34
  • 71.99 (n)
zebrafish
(Danio rerio)
Actinopterygii hkdc1 34 35
  • 69.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hex-C 35
  • 40 (a)
ManyToMany
Hex-A 35
  • 38 (a)
ManyToMany
Hex-t2 35
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F14B4.2 35
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HXK1 35
  • 31 (a)
ManyToMany
EMI2 35
  • 30 (a)
ManyToMany
GLK1 35
  • 30 (a)
ManyToMany
HXK2 35 37
  • 30 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os05g0187100 34
  • 50.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 35
  • 47 (a)
OneToMany
Species where no ortholog for HKDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HKDC1 Gene

Paralogs for HKDC1 Gene

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

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

Variants for HKDC1 Gene

Sequence variations from dbSNP and Humsavar for HKDC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs796052175 Likely benign 69,246,204(+) CAAGA(A/T)CGAAA nc-transcript-variant, reference, missense
rs1000064595 -- 69,255,438(+) GCCAC(A/C/G)GGGCT intron-variant
rs1000065133 -- 69,265,942(+) AAGGA(A/G)TGCTG intron-variant
rs1000077165 -- 69,219,634(+) CTGCA(C/T)CCGGC intron-variant, upstream-variant-2KB
rs1000202029 -- 69,260,956(+) GGGGC(A/G)CTACT intron-variant

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)

Relevant External Links for HKDC1 Gene

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

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

Disorders for HKDC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gestational diabetes
  • gdm
- elite association - COSMIC cancer census association via MalaCards
Search HKDC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HKDC1

Genetic Association Database (GAD)
HKDC1
Human Genome Epidemiology (HuGE) Navigator
HKDC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HKDC1
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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. (PMID: 20732627) Neale B.M. … Biederman J. (J Am Acad Child Adolesc Psychiatry 2010) 3 46 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Molecular evolution of the vertebrate hexokinase gene family: Identification of a conserved fifth vertebrate hexokinase gene. (PMID: 20483211) Irwin D.M. … Tan H. (Comp. Biochem. Physiol. Part D Genomics Proteomics 2008) 3 22 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for HKDC1 Gene

  • Addgene plasmids for HKDC1

Sources for HKDC1 Gene

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