MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.7.1.1	Transferases; Transferring phosphorus-containing groups; Phosphotransferases with an alcohol group as acceptor; hexokinase

Structure

PDB	Resolution (Å)	PDB name
1CZA	1.9	MUTANT MONOMER OF RECOMBINANT HUMAN HEXOKINASE TYPE I COMPLEXED WITH GLUCOSE, GLUCOSE-6-PHOSPHATE, AND ADP
1DGK	2.8	MUTANT MONOMER OF RECOMBINANT HUMAN HEXOKINASE TYPE I WITH GLUCOSE AND ADP IN THE ACTIVE SITE
1HKB	2.8	CRYSTAL STRUCTURE OF RECOMBINANT HUMAN BRAIN HEXOKINASE TYPE I COMPLEXED WITH GLUCOSE AND GLUCOSE-6-PHOSPHATE
1HKC	2.8	RECOMBINANT HUMAN HEXOKINASE TYPE I COMPLEXED WITH GLUCOSE AND PHOSPHATE
1QHA	2.25	HUMAN HEXOKINASE TYPE I COMPLEXED WITH ATP ANALOGUE AMP-PNP
4F9O	2.65	Crystal Structure of recombinant human Hexokinase type I with 2-deoxy-Glucose 6-Phosphate
4FOE	2.7	Crystal Structure of recombinant human Hexokinase type I with Mannose 6-Phosphate
4FOI	2.4	Crystal Structure of recombinant human Hexokinase type I mutant D413N with Glucose 1,6-bisphosphate
4FPA	2.48	Crystal Structure of recombinant human Hexokinase type I mutant D413N Glucose 6-Phosphate
4FPB	3.0	Crystal Structure of Recombinant Human Hexokinase Type I with 1,5-Anhydroglucitol 6-Phosphate

GO term

GO ontology	GO term	GO description
Biological Process	GO:0061621	canonical glycolysis
Biological Process	GO:0046835	carbohydrate phosphorylation
Biological Process	GO:0072655	establishment of protein localization to mitochondrion
Biological Process	GO:0006002	fructose 6-phosphate metabolic process
Biological Process	GO:0051156	glucose 6-phosphate metabolic process
Biological Process	GO:0006006	glucose metabolic process
Biological Process	GO:0006096	glycolytic process
Biological Process	GO:0006954	inflammatory response
Biological Process	GO:0045087	innate immune response
Biological Process	GO:0001678	intracellular glucose homeostasis
Biological Process	GO:0072656	maintenance of protein location in mitochondrion
Biological Process	GO:0006013	mannose metabolic process
Biological Process	GO:0002720	positive regulation of cytokine production involved in immune response
Biological Process	GO:0032731	positive regulation of interleukin-1 beta production
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0008865	fructokinase activity
Molecular Function	GO:0004340	glucokinase activity
Molecular Function	GO:0047931	glucosamine kinase activity
Molecular Function	GO:0005536	glucose binding
Molecular Function	GO:0004396	hexokinase activity
Molecular Function	GO:0019158	mannokinase activity
Molecular Function	GO:0042834	peptidoglycan binding
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0045121	membrane raft
Cellular Component	GO:0005741	mitochondrial outer membrane
Cellular Component	GO:0005739	mitochondrion

InterPro / Pfam

InterPro	InterPro name
IPR001312	Hexokinase
IPR019807	Hexokinase, binding site
IPR022672	Hexokinase, N-terminal
IPR022673	Hexokinase, C-terminal
IPR043129	ATPase, nucleotide binding domain

Pfam	Pfam name
PF00349	Hexokinase
PF03727	Hexokinase

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-5619056	Defective HK1 causes hexokinase deficiency (HK deficiency)	Leaf	R-HSA-1643685	Disease
R-HSA-70171	Glycolysis	Internal node	R-HSA-1430728	Metabolism

Subcellular location

Location	ECO term	Pubmed
Cytoplasm, cytosol	ECO:0000269	PubMed:27374331
Mitochondrion outer membrane	ECO:0000269	PubMed:1985912
Mitochondrion outer membrane	ECO:0000269	PubMed:27374331

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000219	Thin upper lip vermilion
HP:0000286	Epicanthus
HP:0000365	Hearing impairment
HP:0000414	Bulbous nose
HP:0000463	Anteverted nares
HP:0000473	Torticollis
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000543	Optic disc pallor
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000687	Widely spaced teeth
HP:0000750	Delayed speech and language development
HP:0000952	Jaundice
HP:0001081	Cholelithiasis
HP:0001082	Cholecystitis
HP:0001133	Constriction of peripheral visual field
HP:0001155	Abnormality of the hand
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001272	Cerebellar atrophy
HP:0001283	Bulbar palsy
HP:0001284	Areflexia
HP:0001618	Dysphonia
HP:0001744	Splenomegaly
HP:0001760	Abnormal foot morphology
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0001763	Pes planus
HP:0001895	Normochromic anemia
HP:0001897	Normocytic anemia
HP:0001923	Reticulocytosis
HP:0001930	Nonspherocytic hemolytic anemia
HP:0002007	Frontal bossing
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002141	Gait imbalance
HP:0002355	Difficulty walking
HP:0002460	Distal muscle weakness
HP:0002495	Impaired vibratory sensation
HP:0002505	Loss of ambulation
HP:0002509	Limb hypertonia
HP:0002650	Scoliosis
HP:0002827	Hip dislocation
HP:0002904	Hyperbilirubinemia
HP:0002936	Distal sensory impairment
HP:0003387	Decreased number of large peripheral myelinated nerve fibers
HP:0003409	Distal sensory impairment of all modalities
HP:0003431	Decreased motor nerve conduction velocity
HP:0003450	Axonal regeneration
HP:0003470	Paralysis
HP:0003477	Peripheral axonal neuropathy
HP:0003577	Congenital onset
HP:0003621	Juvenile onset
HP:0003676	Progressive
HP:0003693	Distal amyotrophy
HP:0003701	Proximal muscle weakness
HP:0004322	Short stature
HP:0004467	Preauricular pit
HP:0005469	Flat occiput
HP:0006970	Periventricular leukomalacia
HP:0007108	Demyelinating peripheral neuropathy
HP:0007182	Peripheral hypomyelination
HP:0007210	Lower limb amyotrophy
HP:0007230	Decreased distal sensory nerve action potential
HP:0007328	Impaired pain sensation
HP:0007401	Macular atrophy
HP:0007663	Reduced visual acuity
HP:0007737	Bone spicule pigmentation of the retina
HP:0007843	Attenuation of retinal blood vessels
HP:0008081	Pes valgus
HP:0008755	Laryngotracheomalacia
HP:0008936	Axial hypotonia
HP:0008944	Distal lower limb amyotrophy
HP:0008959	Distal upper limb muscle weakness
HP:0009053	Distal lower limb muscle weakness
HP:0009129	Upper limb amyotrophy
HP:0009830	Peripheral neuropathy
HP:0010830	Impaired tactile sensation
HP:0011096	Peripheral demyelination
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0011947	Respiratory tract infection
HP:0011968	Feeding difficulties
HP:0012078	Motor conduction block
HP:0012469	Infantile spasms
HP:0012799	Unilateral facial palsy
HP:0025336	Delayed ability to sit
HP:0031936	Delayed ability to walk
HP:0034337	Claw hand deformity
HP:0100704	Cerebral visual impairment

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Supported
appendix	endocrine cells	High	Supported
appendix	enterocytes	High	Supported
appendix	goblet cells	High	Supported
bone marrow	hematopoietic cells	Medium	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Medium	Supported
bronchus	respiratory epithelial cells	High	Supported
caudate	glial cells	Low	Supported
caudate	neuronal cells	Medium	Supported
cerebellum	Purkinje cells	Low	Supported
cerebellum	cells in granular layer	High	Supported
cerebellum	cells in molecular layer	Medium	Supported
cerebral cortex	glial cells	Low	Supported
cerebral cortex	neuronal cells	High	Supported
cerebral cortex	neuropil	Medium	Supported
cervix	glandular cells	Medium	Supported
cervix	squamous epithelial cells	Medium	Supported
colon	endocrine cells	High	Supported
colon	endothelial cells	Medium	Supported
colon	enterocytes	High	Supported
colon	fibroblasts	Medium	Supported
colon	goblet cells	High	Supported
colon	mucosal lymphoid cells	High	Supported
colon	peripheral nerve/ganglion	High	Supported
duodenum	endocrine cells	High	Supported
duodenum	enterocytes	High	Supported
duodenum	glands of Brunner	High	Supported
duodenum	goblet cells	High	Supported
duodenum	paneth cells	High	Supported
endometrium 1	cells in endometrial stroma	Low	Supported
endometrium 1	glandular cells	Medium	Supported
endometrium 2	cells in endometrial stroma	Low	Supported
endometrium 2	glandular cells	Medium	Supported
epididymis	glandular cells	Medium	Supported
esophagus	squamous epithelial cells	High	Supported
fallopian tube	glandular cells	Medium	Supported
gallbladder	glandular cells	Low	Supported
heart muscle	cardiomyocytes	Medium	Supported
hippocampus	glial cells	Low	Supported
hippocampus	neuronal cells	High	Supported
kidney	cells in glomeruli	Low	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Low	Supported
liver	hepatocytes	Low	Supported
lung	alveolar cells type II	High	Supported
lung	macrophages	High	Supported
lymph node	germinal center cells	Low	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	High	Supported
oral mucosa	squamous epithelial cells	High	Supported
ovary	follicle cells	Medium	Supported
ovary	ovarian stroma cells	Low	Supported
pancreas	exocrine glandular cells	Low	Supported
pancreas	pancreatic endocrine cells	Low	Supported
parathyroid gland	glandular cells	Medium	Supported
placenta	cytotrophoblasts	High	Supported
placenta	endothelial cells	High	Supported
placenta	hofbauer cells	High	Supported
placenta	syncytiotrophoblasts - cell body	High	Supported
placenta	syncytiotrophoblasts - microvilli	High	Supported
prostate	glandular cells	Medium	Supported
rectum	endocrine cells	High	Supported
rectum	enterocytes	High	Supported
rectum	goblet cells	High	Supported
rectum	mucosal lymphoid cells	High	Supported
salivary gland	glandular cells	Medium	Supported
seminal vesicle	glandular cells	High	Supported
skeletal muscle	myocytes	Medium	Supported
skin 1	Langerhans	Medium	Supported
skin 1	keratinocytes	Medium	Supported
skin 1	melanocytes	Medium	Supported
skin 2	epidermal cells	Medium	Supported
small intestine	endocrine cells	High	Supported
small intestine	enterocytes	High	Supported
small intestine	goblet cells	High	Supported
small intestine	paneth cells	High	Supported
smooth muscle	smooth muscle cells	Low	Supported
spleen	cells in red pulp	Medium	Supported
spleen	cells in white pulp	Medium	Supported
stomach 1	glandular cells	High	Supported
stomach 2	glandular cells	High	Supported
testis	Leydig cells	Medium	Supported
testis	elongated or late spermatids	Medium	Supported
thyroid gland	glandular cells	High	Supported
tonsil	germinal center cells	Medium	Supported
tonsil	non-germinal center cells	Medium	Supported
tonsil	squamous epithelial cells	Medium	Supported
urinary bladder	urothelial cells	High	Supported
vagina	squamous epithelial cells	High	Supported

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
non-spherocytic hemolytic anemia due to hexokinase deficiency	MONDO:0009340	D55	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism	OMIM:235700	Orphanet:90031
charcot-marie-tooth disease type 4g	MONDO:0011534	G60	chapter6, Diseases of the nervous system	OMIM:605285	Orphanet:99953
neurodevelopmental disorder with visual defects and brain anomalies	MONDO:0032807	G00	chapter6, Diseases of the nervous system	OMIM:618547
neurodevelopmental disorder with visual defects and brain anomalies	MONDO:0032807	G98	chapter6, Diseases of the nervous system	OMIM:618547
retinitis pigmentosa 79	MONDO:0044320	H35	chapter7, Diseases of the eye and adnexa	OMIM:617460

Summary of P19367

Gene: HK1
Protein: Hexokinase-1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P19367

Gene: HK1 Protein: Hexokinase-1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: HK1
Protein: Hexokinase-1