Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2584
Gene name	Galactokinase 1
Gene symbol	GALK1
Synonyms (NCBI Gene)	GALKGK1HEL-S-19
Chromosome	17
Chromosome location	17q25.1
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]

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80084721	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894572	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs104894577	C>A	Pathogenic	Stop gained, coding sequence variant
rs113464656	C>A,G,T	Likely-pathogenic	Splice donor variant
rs376790302	G>A	Pathogenic	Coding sequence variant, missense variant
rs759284637	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs767329054	C>-,CC	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs770087254	GCCTGGGCCGTGCGCCGAATCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771067891	->GC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs915070690	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1311294794	T>C,G	Likely-pathogenic	Missense variant, initiator codon variant
rs1555748534	->GGTACTCGCTGGAGGCCAGGGAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555748556	C>T	Likely-pathogenic	Splice acceptor variant
rs1555748940	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1568395061	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599335144	C>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029752	hsa-miR-26b-5p	Microarray	19088304
MIRT040306	hsa-miR-615-3p	CLASH	23622248
MIRT036546	hsa-miR-1225-5p	CLASH	23622248

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004335	Function	Galactokinase activity	EXP	7542884
GO:0004335	Function	Galactokinase activity	IBA
GO:0004335	Function	Galactokinase activity	IDA	7542884, 12694189
GO:0004335	Function	Galactokinase activity	IEA
GO:0004335	Function	Galactokinase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IDA	12694189
GO:0005524	Function	ATP binding	IEA
GO:0005534	Function	Galactose binding	IDA	14596685
GO:0005534	Function	Galactose binding	IEA
GO:0005737	Component	Cytoplasm	IDA	8908517
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006012	Process	Galactose metabolic process	IBA
GO:0006012	Process	Galactose metabolic process	IEA
GO:0006012	Process	Galactose metabolic process	IEA
GO:0006012	Process	Galactose metabolic process	IMP	15024738
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	8908517
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0019402	Process	Galactitol metabolic process	IEA
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	IEA
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	TAS
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0061623	Process	Glycolytic process from galactose	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
604313	4118	ENSG00000108479

P51570

Protein name

Galactokinase (EC 2.7.1.6) (Galactose kinase)

Protein function

Catalyzes the transfer of a phosphate from ATP to alpha-D-galactose and participates in the first committed step in the catabolism of galactose.

PDB

1WUU , 6GR2 , 6Q3W , 6Q3X , 6Q8Z , 6Q90 , 6Q91 , 6QJE , 6ZFH , 6ZGV , 6ZGW , 6ZGX , 6ZGY , 6ZGZ , 6ZH0 , 7OZX , 7RCL , 7RCM , 7S49 , 7S4C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10509	GalKase_gal_bdg	18 → 67	Galactokinase galactose-binding signature	Domain
PF00288	GHMP_kinases_N	126 → 194	GHMP kinases N terminal domain	Family
PF08544	GHMP_kinases_C	291 → 374	GHMP kinases C terminal	Family

Sequence

MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELM
TVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAA
PLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGM
PCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY
RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASA
APHAMRHIQEHYGGTATFYLSQAADGAKVLCL

Sequence length

392

Interactions

View interactions

	KEGG		Reactome
	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars		Defective GALK1 can cause Galactosemia II (GALCT2) Galactose catabolism

495

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of galactokinase	Likely pathogenic; Pathogenic	rs2545899470, rs775843885, rs2143608501, rs2143603585, rs767790909, rs2143601360, rs142772020, rs2061564118, rs2143608720, rs2143608028, rs2143605190, rs767799179, rs2143586633, rs2061596711, rs2143585254 View all (73 more)	RCV004576134 RCV001381964 RCV001390010 RCV001580707 RCV001995252 RCV001950940 RCV001980343 RCV001867375 RCV001993333 RCV001899504 RCV002037728 RCV001959046 RCV002010483 RCV001958764 RCV001886221 RCV002244285 RCV002309740 RCV002310051 RCV002307925 RCV002308079 RCV002309154 RCV002306959 RCV002307023 RCV002307274 RCV002310531 RCV002308387 RCV003087871 RCV002572257 RCV002650389 RCV000005983 RCV000005984 RCV000005985 RCV000005986 RCV002912944 RCV002909178 RCV003032220 RCV003025167 RCV003155602 RCV003461622 RCV003461623 RCV003461625 RCV003461626 RCV003461627 RCV003461628 RCV003505482 RCV003505847 RCV003506160 RCV003506269 RCV003506347 RCV003506588 RCV003504976 RCV003505616 RCV003613572 RCV003613901 RCV003613713 RCV003613803 RCV003614565 RCV003614698 RCV003614817 RCV003615155 RCV003879325 RCV004576133 RCV004576640 RCV004576641 RCV000666379 RCV000670419 RCV000669015 RCV000673382 RCV000674786 RCV000670947 RCV000666168 RCV000671410 RCV000672148 RCV000666699 RCV000673596 RCV000674206 RCV000667929 RCV000671906 RCV000674134 RCV000669565 RCV000674666 RCV001232085 RCV001844235 RCV000800933 RCV001070440 RCV001215181 RCV001229403 RCV001225611 RCV001246394 RCV001263817 RCV001263818 RCV001263819 RCV001263820 RCV001263986
GALK1-related disorder	Likely pathogenic; Pathogenic	rs759699355, rs375690568	RCV004754883 RCV004754550

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Sarcoma	Benign; Likely benign	rs201663491	RCV005907126

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	33115496
Blindness	Associate	10521295
Brain Diseases	Associate	32807972, 38353984
Cataract	Associate	12694189, 12942049, 173185, 32807972, 8908517
Cataract Autosomal Dominant Nuclear	Associate	20405025
Cognition Disorders	Associate	32807972
Colorectal Neoplasms	Associate	35963622
Galactosemias	Associate	10521295, 12694189, 173185, 18490662, 29261178, 32807972, 34088690, 8908517
Galactosemias	Inhibit	20863731
Genetic Diseases Inborn	Associate	12694189, 28418495
Hemorrhagic Disorders	Associate	32807972
Neoplastic Syndromes Hereditary	Associate	32807972
Philadelphia Chromosome	Associate	173185
Red Cell Aplasia Pure	Associate	14077997
Urinary Bladder Neoplasms	Associate	33545950, 37834386

GALK1 (galactokinase 1)