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GALK1 (galactokinase 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2584
Gene nameGene Name - the full gene name approved by the HGNC.
Galactokinase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GALK1
SynonymsGene synonyms aliases
GALK, GK1, HEL-S-19
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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
Unknown
Disease name Disease term dbSNP ID References
Galactokinase deficiency Galactokinase deficiency

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