InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HK1

Summary

InnateDB Protein

IDBP-76789.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HK1

Protein Name

hexokinase 1

Synonyms

HK1-ta; HK1-tb; HK1-tc; HKD; HKI; HMSNR; HXK1;

Species

Homo sapiens

Ensembl Protein

ENSP00000298649

InnateDB Gene

IDBG-76783 (HK1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.

Disease Associations

Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. {ECO:0000269PubMed:12393545, ECO:0000269PubMed:7655856}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary motor and sensory neuropathy, Russe type (HMSNR) [MIM:605285]: An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. {ECO:0000269PubMed:19536174}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	46 [view]
Protein-Protein	45 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004340	glucokinase activity
GO:0004396	hexokinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008865	fructokinase activity
GO:0016773	phosphotransferase activity, alcohol group as acceptor
GO:0019158	mannokinase activity

Biological Process

GO:0001678	cellular glucose homeostasis
GO:0005975	carbohydrate metabolic process
GO:0006096	glycolytic process
GO:0008219	cell death
GO:0008645	hexose transport
GO:0015758	glucose transport
GO:0019318	hexose metabolic process
GO:0044281	small molecule metabolic process
GO:0046835	carbohydrate phosphorylation
GO:0051156	glucose 6-phosphate metabolic process
GO:0055085	transmembrane transport