The HK1 gene homepage

General information
Gene symbol HK1
Gene name hexokinase 1
Chromosome 10
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_012077.1
Transcript reference NM_000188.2, NM_033500.2
Exon/intron information NM_000188.2 exon/intron table, NM_033500.2 exon/intron table
Associated with diseases HMSNR, NEDVIBA, RP79, anemia, hemolytic, due to hexokinase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 109
Unique public DNA variants reported 69
Individuals with public variants 2434
Hidden variants 9
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 15, 2020
Version HK1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000188.2, NM_033500.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 4922
Entrez Gene 3098
PubMed articles HK1
OMIM - Gene 142600
OMIM - Diseases HMSNR (CMT-4G)
NEDVIBA (neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA))
RP79 (retinitis pigmentosa, type 79 (RP79))
anemia, hemolytic, due to hexokinase deficiency
GeneCards HK1
GeneTests HK1

Active transcripts




NCBI ID     

NCBI Protein ID     

00025404 10 transcript variant 5 NM_033500.2 NP_277035.2 106
00009421 10 transcript variant 1 NM_000188.2 NP_000179.2 105

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.