HK1

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Hexokinase 1
Protein HK1 PDB 1bg3.png
PDB rendering based on 1bg3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HK1 ; HK1-ta; HK1-tb; HK1-tc; HKD; HKI; HMSNR; HXK1
External IDs OMIM142600 MGI96103 HomoloGene100530 ChEMBL: 2688 GeneCards: HK1 Gene
EC number 2.7.1.1
RNA expression pattern
PBB GE HK1 200697 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3098 15275
Ensembl ENSG00000156515 ENSMUSG00000037012
UniProt P19367 P17710
RefSeq (mRNA) NM_000188 NM_001146100
RefSeq (protein) NP_000179 NP_001139572
Location (UCSC) Chr 10:
71.03 – 71.16 Mb
Chr 10:
62.27 – 62.38 Mb
PubMed search [1] [2]

Hexokinase-1 is an enzyme that in humans is encoded by the HK1 gene.

Function[edit]

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria.

Isoforms[edit]

Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein.[1]

Clinical significance[edit]

Mutations in this gene are associated with type 4H of Charcot–Marie–Tooth disease, also known as Russe-type hereditary motor and sensory neuropathy (HMSNR).[2]

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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GlycolysisGluconeogenesis_WP534 go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to Entrez go to article go to article go to article go to article go to article go to WikiPathways go to article go to Entrez go to article
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GlycolysisGluconeogenesis_WP534 go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to Entrez go to article go to article go to article go to article go to article go to WikiPathways go to article go to Entrez go to article
|{{{bSize}}}px|alt=Glycolysis and Gluconeogenesis edit|]]
Glycolysis and Gluconeogenesis edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534". 

References[edit]

Further reading[edit]