• Gene id: 80201

Gene Summary

• Gene Symbol: HKDC1   Gene   UCSC   Ensembl
• Gene name: hexokinase domain containing 1
• Alternate names: hexokinase HKDC1, hexokinase domain-containing protein 1, putative hexokinase HKDC1,
• Gene location: 10q22.1 (69220302: 69267551)     Exons: 20     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 617221

Protein Summary

• Protein general information: Q2TB90  
  • Name: Hexokinase HKDC1 (EC 2.7.1.1) (Hexokinase domain containing protein 1)
  • Length: 917  
  • Mass: 102545
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MFAVHLMAFYFSKLKEDQIKKVDRFLYHMRLSDDTLLDIMRRFRAEMEKGLAKDTNPTAAVKMLPTFVRAIPDGS
  ENGEFLSLDLGGSKFRVLKVQVAEEGKRHVQMESQFYPTPNEIIRGNGTELFEYVADCLADFMKTKDLKHKKLPL
  GLTFSFPCRQTKLEEGVLLSWTKKFKARGVQDTDVVSRLTKAMRRHKDMDVDILALVNDTVGTMMTCAYDDPYCE
  VGVIIGTGTNACYMEDMSNIDLVEGDEGRMCINTEWGAFGDDGALEDIRTEFDRELDLGSLNPGKQLFEKMISGL
  YLGELVRLILLKMAKAGLLFGGEKSSALHTKGKIETRHVAAMEKYKEGLANTREILVDLGLEPSEADCIAVQHVC
  TIVSFRSANLCAAALAAILTRLRENKKVERLRTTVGMDGTLYKIHPQYPKRLHKVVRKLVPSCDVRFLLSESGST
  KGAAMVTAVASRVQAQRKQIDRVLALFQLTREQLVDVQAKMRAELEYGLKKKSHGLATVRMLPTYVCGLPDGTEK
  GKFLALDLGGTNFRVLLVKIRSGRRSVRMYNKIFAIPLEIMQGTGEELFDHIVQCIADFLDYMGLKGASLPLGFT
  FSFPCRQMSIDKGTLIGWTKGFKATDCEGEDVVDMLREAIKRRNEFDLDIVAVVNDTVGTMMTCGYEDPNCEIGL
  IAGTGSNMCYMEDMRNIEMVEGGEGKMCINTEWGGFGDNGCIDDIWTRYDTEVDEGSLNPGKQRYEKMTSGMYLG
  EIVRQILIDLTKQGLLFRGQISERLRTRGIFETKFLSQIESDRLALLQVRRILQQLGLDSTCEDSIVVKEVCGAV
  SRRAAQLCGAGLAAIVEKRREDQGLEHLRITVGVDGTLYKLHPHFSRILQETVKELAPRCDVTFMLSEDGSGKGA
  ALITAVAKRLQQAQKEN

• Structural information:
  • Protein Domains: (16..45-)
    (/note="Hexokinase-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01084-)
    (464..90-)
    (/note="Hexokinase-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01084"-)
  • Interpro: IPR001312  IPR019807  IPR022673  IPR022672  
  • Prosite: PS00378 PS51748
  • STRING: ENSP00000346643
• Other Databases: GeneCards:  HKDC1  Malacards:  HKDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004340	glucokinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0008865	fructokinase activity	IBA	molecular function
GO:0019158	mannokinase activity	IBA	molecular function
GO:0001678	cellular glucose homeostasis	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006096	glycolytic process	IBA	biological process
GO:0051156	glucose 6-phosphate metabolic process	IBA	biological process
GO:0004340	glucokinase activity	IDA	molecular function
GO:0001678	cellular glucose homeostasis	IDA	biological process
GO:0051156	glucose 6-phosphate metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0004396	hexokinase activity	IEA	molecular function
GO:0005536	glucose binding	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0001678	cellular glucose homeostasis	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004396	hexokinase activity	IEA	molecular function
GO:0001678	cellular glucose homeostasis	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0019318	hexose metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05131	Shigellosis
hsa04910	Insulin signaling pathway
hsa01200	Carbon metabolism
hsa04066	HIF-1 signaling pathway
hsa00010	Glycolysis / Gluconeogenesis
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa04930	Type II diabetes mellitus
hsa05230	Central carbon metabolism in cancer
hsa04973	Carbohydrate digestion and absorption
hsa00051	Fructose and mannose metabolism
hsa00500	Starch and sucrose metabolism
hsa00052	Galactose metabolism
hsa00524	Neomycin, kanamycin and gentamicin biosynthesis

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray