HK1 - hexokinase 1 Gene

Also Known as HK; HKD; HKI; HXK1; RP79; HMSNR; HK1-ta; HK1-tb; HK1-tc; NEDVIBA; hexokinase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3098

About HK1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:69,270,000-69,401,882 (from NCBI)

This gene has 30 transcripts (splice variants), 253 orthologues, 4 paralogues and is associated with 8 phenotypes. Ubiquitous expression in heart (RPKM 41.2), esophagus (RPKM 41.1) and 24 other tissues.

Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of Hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to Hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]

HK1 Products (10)

mRNA	Protein	Name
NM_000188.3	NP_000179.2	hexokinase-1 isoform HKI
NM_001322364.2	NP_001309293.1	hexokinase-1 isoform HKI-ta/tb
NM_001322365.2	NP_001309294.1	hexokinase-1 isoform a
NM_001322366.1	NP_001309295.1	hexokinase-1 isoform b
NM_001322367.1	NP_001309296.1	hexokinase-1 isoform c
NM_001358263.1	NP_001345192.1	hexokinase-1 isoform HKI-ta/tb
NM_033496.3	NP_277031.1	hexokinase-1 isoform HKI-R
NM_033497.3	NP_277032.1	hexokinase-1 isoform HKI-ta/tb
NM_033498.3	NP_277033.1	hexokinase-1 isoform HKI-ta/tb
NM_033500.2	NP_277035.2	hexokinase-1 isoform HKI-td

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables hexokinase activity	IMP IMP: Inferred from mutant phenotype	27374331	GOA
enables mannokinase activity	EXP EXP: Inferred from Experiment	13681085	GOA
enables peptidoglycan binding	IDA IDA: Inferred from direct assay	27374331	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22304920	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carbohydrate phosphorylation	IMP IMP: Inferred from mutant phenotype	27374331	GOA
involved in establishment of protein localization to mitochondrion	IMP IMP: Inferred from mutant phenotype	23962723	GOA
involved in maintenance of protein location in mitochondrion	IMP IMP: Inferred from mutant phenotype	23962723	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HK1 Protein Structure

Hexokinase_1

Hexokinase_2

Hexokinase_1

Hexokinase_2

0
200
400
600
800
917 a.a.

Protein Preferred Names	Protein Names
hexokinase-1	brain form hexokinase

HK1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HK1	P19367	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	HK1	P19367	VDAC1	Homo sapiens	P21796	Crosslink	22304920

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HK1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700580	HK1/Hexokinase-1 Protein, Human (His)	P19367-1 (E13-A475)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700581	HK1/Hexokinase-1 Protein, Human (P. pastoris, His)	P19367-1 (E13-A475)	≥ 90%, as determined by reducing SDS-PAGE.

HK1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80702	Hexokinase I Antibody (YA739)	WB	Human, Mouse, Rat
HY-P80702A	Hexokinase I Antibody (YA739)(PBS only)	WB	Human, Mouse, Rat
HY-P84156	Hexokinase I Antibody (YA3853)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P84156A	Hexokinase I Antibody (YA3853)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P85209	Hexokinase I Antibody (YA4901)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P85528	Hexokinase I Antibody (YA5220)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hemolytic Anemia Due To Hexokinase Deficiency Hexokinase Deficiency Hemolytic Anemia Nonspherocytic Hemolytic Anemia Due To Hexokinase Deficiency Non-Spherocytic Hemolytic Anemia Due To Hexokinase Deficiency Hexokinase Deficiency HK DEFICIENCY Anemia, Hemolytic, Due To Hexokinase Deficiency Deficiency Of Hexokinase
Neuropathy, Hereditary Motor And Sensory, Russe Type	Charcot-Marie-Tooth Disease Type 4g HMSNR Cmt4g Hereditary Motor And Sensory Neuropathy, Russe Type Charcot-Marie-Tooth Disease, Type 4g Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g Charcot-Marie-Tooth Neuropathy Type 4g Charcot-Marie-Tooth Neuropathy, Type 4g Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g Hereditary Motor And Sensory Neuropathy Russe Type Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	NEDVIBA
Retinitis Pigmentosa 79	RP79 Retinitis Pigmentosa, Type 79
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Hyperinsulinism	Hyperinsulinemia
Hyperinsulinemic Hypoglycemia, Familial, 7	HHF7 Exercise-Induced Hyperinsulinemic Hypoglycemia Exercise-Induced Hyperinsulinism Familial Hyperinsulinemic Hypoglycemia 7 Eihi Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency Hyperinsulinism Due To Slc16a1 Deficiency Hyperinsulinemic Hypoglycemia, Exercise-Induced Exercise Induced Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia Exercise-Induced Hyperinsulinemic Hypoglycemia Familial 7
Chronic Cholangitis
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-18768	NCT-501		99.59%	Unkown
HY-N6954	Garcinone C		99.51%	Unkown
HY-P10412	A11	Inhibitor	98.49%	Unkown
HY-N20662	(+)-Neoalbaconol		/	Unkown
HY-RS06192	HK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS06287	HOOK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07100	KCNA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07373	KLK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14138	TAC4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N10133	Licoflavanone		/	Unkown
HY-RS17121	Hk1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23566	Hk1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991810	Anti-Mouse Ly-6C Antibody (HK1.4)	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HK1	RGD	RGD:2796
Felis catus	HK1	VGNC	VGNC:67579
Bos taurus	HK1	VGNC	VGNC:29864
Mus musculus	HK1	MGD	MGI:96103
Macaca mulatta	HK1	VGNC	VGNC:73474
Canis familiaris	HK1	VGNC	VGNC:41698
Others	HK1	NCBI