GALK1 (galactokinase 1)

Gene

• Entrez ID: 2584
• Gene name: Galactokinase 1
• Gene symbol: GALK1
• Synonyms (NCBI Gene): GALK, GK1, HEL-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]

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004335	Function	Galactokinase activity	EXP	7542884
GO:0004335	Function	Galactokinase activity	IBA	21873635
GO:0004335	Function	Galactokinase activity	IDA	7542884, 12694189
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IDA	12694189
GO:0005534	Function	Galactose binding	IDA	14596685
GO:0005737	Component	Cytoplasm	IDA	8908517
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006012	Process	Galactose metabolic process	IBA	21873635
GO:0006012	Process	Galactose metabolic process	IMP	15024738
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	8908517
GO:0019388	Process	Galactose catabolic process	TAS
GO:0019402	Process	Galactitol metabolic process	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0061623	Process	Glycolytic process from galactose	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 604313
• HGNC: 4118
• e!Ensembl: ENSG00000108479

Protein

• UniProt ID: 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

Pathways

KEGG:

Galactose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars

Reactome:

Defective GALK1 can cause Galactosemia II (GALCT2)
Galactose catabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract, Pseudoaphakia	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	7670469
Deficiency of galactokinase	Deficiency of galactokinase	rs104894577, rs104894572, rs111033608, rs1599335144, rs113464656, rs1026685248, rs770087254, rs1555748556, rs771067891, rs1555748940, rs1311294794, rs371517491, rs1555748534, rs767329054, rs1568395061, rs376790302, rs2061599016	10521295, 12694189, 10790206, 11231902, 7670469, 11978884, 15024738, 10570908, 12647253, 27604308, 11978883, 20405025, 11139256, 21290184
Epidermolysis bullosa	Epidermolysis bullosa with pyloric atresia	rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901, rs1558088792, rs121912466, rs2147483647, rs746056280, rs121912832, rs121912833, rs121912834, rs121912836, rs121912837, rs759990189, rs121912839, rs121912844, rs121912845, rs1575495784, rs121912848, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs121912769, rs1564673127, rs121912770, rs753898533, rs121912771, rs1589562891, rs2134563935, rs2134581672, rs121912772, rs121912773, rs121912774, rs121912856, rs201551805, rs769967565, rs786204774, rs797045084, rs886039330, rs886039412, rs1553277702, rs886041187, rs368007918, rs886041186, rs766902987, rs886041555, rs752657203, rs757415879, rs886058642, rs752317971, rs201307156, rs1057517096, rs774133746, rs772421306, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs1064793916, rs780623622, rs747522386, rs1064793760, rs775196743, rs1131691385, rs201940939, rs200972872, rs139318843, rs1368134215, rs1203706188, rs772038362, rs1553281335, rs1181742615, rs1553853022, rs1553612928, rs1055680335, rs1057517023, rs760094345, rs1560241522, rs199527325, rs751535193, rs767539005, rs775244527, rs769808745, rs1032335328, rs1478395810, rs777672897, rs1575466699, rs776841521, rs1589572214, rs761388039, rs769294243, rs761927109, rs754621187	10484780, 12485428
Galactosemia	Galactosemias, Classical galactosemia	rs111033695, rs111033800, rs111033715, rs111033690, rs111033773, rs111033658, rs111033661, rs111033670, rs111033667, rs111033681, rs111033689, rs111033686, rs111033694, rs367543258, rs111033718, rs111033717, rs111033723, rs111033728, rs111033738, rs111033739, rs111033735, rs111033737, rs111033744, rs111033742, rs111033749, rs111033754, rs111033758, rs111033768, rs111033790, rs367543266, rs111033794, rs111033802, rs111033811, rs111033688, rs111033697, rs111033693, rs111033808, rs398123179, rs786204763, rs111033813, rs111033674, rs886042070, rs111033766, rs768154316, rs751902026, rs115413295, rs767153310	7670469
Junctional epidermolysis bullosa	Adult junctional epidermolysis bullosa (disorder)	rs80356682, rs121912482, rs786205095, rs769151482, rs118203901, rs121912467, rs121912468, rs121912769, rs80356681, rs370148688, rs770302956, rs778012079, rs201307156, rs1057516759, rs1057517096, rs1057516539, rs774133746, rs754289857, rs1064793896, rs775196743, rs747916314, rs759518184, rs1554848576, rs1210666598, rs1553266871, rs1418276828, rs1158945258, rs775244527, rs1558092158, rs1571803654, rs774734592, rs778026407	12485428, 10484780
Epidermolysis bullosa simplex	Weber-Cockayne Syndrome	rs1565118389, rs121918354, rs1558193923, rs786205251, rs786205253, rs786205254, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs59629244, rs60399023, rs58330629, rs57121345, rs60725382, rs61371557, rs28928893, rs57358989, rs58380626, rs57364972, rs58762773, rs60171927, rs57599352, rs58058996, rs58072617, rs58163069, rs60586163, rs121912474, rs57499817, rs60715293, rs121912475, rs57348201, rs61126080, rs59115483, rs59190510, rs864309674, rs387906801, rs387906802, rs201045495, rs267607458, rs59243757, rs62642056, rs56922686, rs267607456, rs267607457, rs59840738, rs57142010, rs61297109, rs56974573, rs61536893, rs58393329, rs61664582, rs267607389, rs59442925, rs58357841, rs57278315, rs60338701, rs61263401, rs60470268, rs61027685, rs200779504, rs267607406, rs58560979, rs60090257, rs60231560, rs374419983, rs886037957, rs886037956, rs749309384, rs1057515580, rs1555156076, rs1553275192, rs1565593355, rs1571564381, rs1571557821	10484780, 12485428
Udpglucose 4-epimerase deficiency disease	UDPglucose 4-epimerase deficiency disease	rs121908045, rs28940882, rs3180383, rs121908047, rs137853859, rs137853860, rs137853861, rs779828095, rs1570630665	7670469

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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