GALK1 - galactokinase 1 Gene

Also Known as GK1; GALK; HEL-S-19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2584

About GALK1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,751,469-75,765,192 (from NCBI)

This gene has 9 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 15.6), liver (RPKM 14.6) and 25 other tissues.

Summary

Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]

GALK1 Products (2)

mRNA	Protein	Name
NM_000154.2	NP_000145.1	galactokinase
NM_001381985.1	NP_001368914.1	galactokinase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12694189	GOA
enables galactokinase activity	EXP EXP: Inferred from Experiment	7542884	GOA
enables galactokinase activity	IDA IDA: Inferred from direct assay	7542884	GOA
enables galactose binding	IDA IDA: Inferred from direct assay	14596685	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in galactose metabolic process	IMP IMP: Inferred from mutant phenotype	15024738	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	8908517	GOA
NOT located in membrane	IDA IDA: Inferred from direct assay	8908517	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

GALK1 Protein Structure

GalKase_gal_bdg

GHMP_kinases_N

GHMP_kinases_C

0
100
200
300
392 a.a.

Protein Preferred Names	Protein Names
galactokinase	epididymis secretory protein Li 19

GALK1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	GALK1	P51570	PNRC2	Homo sapiens	Q9NPJ4	Validated Y2H	32296183
Intra	GALK1	P51570	PNRC2	Homo sapiens	Q9NPJ4	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GALK1 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70365	Galactokinase/GALK1 Protein, Human (His)	P51570 (M1-L392)	≥ 85%, as determined by reducing SDS-PAGE.

GALK1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810877	GALK1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Galactosemia Ii	Galactokinase Deficiency Galk Deficiency Galactokinase Deficiency With Cataracts Deficiency Of Galactokinase GALAC2 Galk-D Galactokinase Deficiency Galactosemia Galactosemia 2 Galactosemia Type 2 Hereditary Galactokinase Deficiency Galactokinase Deficiency, Cataract Galactosemias Galk - [Galactokinase Deficiency]
Epidermolysis Bullosa, Junctional 5a, Intermediate	JEB5A Epidermolysis Bullosa, Junctional 5a, Generalized Intermediate Epidermolysis Bullosa, Junctional 5a, Non-Herlitz Type
Epidermolysis Bullosa With Pyloric Atresia	Eb-Pa Carmi Syndrome Junctional Epidermolysis Bullosa With Pyloric Atresia Pa-Jeb
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Galactosemia Iii	Galactose Epimerase Deficiency Gale Deficiency Udp-Galactose-4-Epimerase Deficiency Epimerase Deficiency Galactosemia Galactosemia Type 3 Gale-D Uridine Diphosphate Galactose-4-Epimerase Deficiency GALAC3 Galactosemia 3 Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency Galactosemia Type Iii Udp-Galactose-4'-Epimerase Deficiency Generalized Galactose Epimerase Deficiency Generalized Gale Deficiency Generalized Gale-D Generalized Udp-Galactose-4-Epimerase Deficiency Generalized Epimerase Deficiency Galactosemia Erythrocyte Galactose Epimerase Deficiency Erythrocyte Gale Deficiency Erythrocyte Gale-D Erythrocyte Udp-Galactose-4-Epimerase Deficiency Erythrocyte Epimerase Deficiency Galactosemia Galactosemias Classical Galactosemia Udpglucose 4-Epimerase Deficiency Disease
Epidermolysis Bullosa Simplex 1c, Localized	Epidermolysis Bullosa Of Hands And Feet EBS1C Ebs, Acral Form Epidermolysis Bullosa Simplex 1c, Weber-Cockayne Type Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Simplex, Weber-Cockayne Type Wc-Ebs
Epidermolysis Bullosa Simplex Localized Type	Epidermolysis Bullosa Simplex, Weber-Cockayne Type Weber-Cockayne Syndrome Ebs-Loc Epidermolysis Bullosa Simplex Of Palms And Soles Epidermolysis Bullosa Simplex Weber-Cockayne Type Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Of Hands And Feet Weber-Cockayne Type Epidermolysis Bullosa Simplex Localized Epidermolysis Bullosa Simplex Localized Ebs
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Epidermolysis Bullosa, Junctional 1a, Intermediate	Jeb-I JEB1A Epidermolysis Bullosa Junctionalis, Disentis Type Junctional Epidermolysis Bullosa Inversa Generalized Atrophic Benign Epidermolysis Bullosa Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Progressive Epidermolysis Bullosa Junctionalis, Severe Nonlethal Localized Junctional Epidermolysis Bullosa Jeb-Nh Loc Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type Localized Jeb Intermediate Generalized Junctional Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Intermediate Generalized Jeb Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Jeb Inversa Epidermolysis Bullosa Atrophicans Generalisata Mitis Epidermolysis Bullosa Junctionalis Disentis Type Epidermolysis Bullosa Junctionalis Progressive Epidermolysis Bullosa Junctionalis Severe Non-Lethal Gabeb Generalized Junctional Epidermolysis Bullosa Mitis Non-Herlitz Junctional Epidermolysis Bullosa Epidermolysis Bullosa Inversa Dystrophica
Mevalonic Aciduria	Mevalonate Kinase Deficiency Mevalonicaciduria Hyperimmunoglobulin D With Periodic Fever MEVA Complete Mevalonate Kinase Deficiency Mva Hyperimmunoglobulinemia D Hyper Igd Syndrome Periodic Fever, Dutch Type Mkd Aciduria, Mevalonic Deficiency Of Mevalonate Kinase
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Intracranial Hypertension, Idiopathic	Pseudotumor Cerebri Idiopathic Intracranial Hypertension Benign Intracranial Hypertension Iih Benign Intracran. Hypt.
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Lens Disease	Lens Diseases
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
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

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 (7)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-128047	GALK1-IN-1	Inhibitor	98.17%	Unkown
HY-132888	NCATS-SM4487		/	Unkown
HY-113143	Galactose 1-phosphate		/	Unkown
HY-173642	NCGC00238624	Inhibitor	/	Unkown
HY-RS05243	GALK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18388	Galk1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24869	Galk1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GALK1	VGNC	VGNC:41081
Rattus norvegicus	GALK1	RGD	RGD:1305375
Macaca mulatta	GALK1	VGNC	VGNC:72869
Felis catus	GALK1	VGNC	VGNC:62439
Bos taurus	GALK1	VGNC	VGNC:29219
Mus musculus	GALK1	MGD	MGI:95730
Others	GALK1	NCBI