HK1 - hexokinase 1 Gene

Homo sapiens

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

Gene ID: 3098 | Gene type: protein coding

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	Reference	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	Reference	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

Recombinant HK1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700580	HK1/Hexokinase-1 Protein, Human (His)	P19367-1 (E13-A475)	≥95%
HY-P700581	HK1/Hexokinase-1 Protein, Human (P. pastoris, His)	P19367-1 (E13-A475)	≥95%

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N6954	Garcinone C		99.66%	Unkown
HY-RS06192	HK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	HK1	NCBI	NCBI:102145864
Others	HK1	NCBI

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