GALK1
entrez
2584
canonical
uniprot
P51570
canonical
ensembl
ENSG00000108479
resolver
ensp
ENSP00000225614
resolver
ensp
ENSP00000465930
resolver
enst
ENST00000225614
resolver
enst
ENST00000588479
resolver
genesymbol
GALK1
resolver
genesymbol
HEL-S-19
resolver
genesymbol_syn
GALK
resolver
hgnc
HGNC:4118
resolver
uniprot
B2RC07
resolver
uniprot
B4E1G6
resolver
uniprot
V9HWE7
resolver
uniprot_entry
GALK1_HUMAN
resolver
uniprot_entry
V9HWE7_HUMAN
resolver
uniprot_sec
B2RC07
resolver
uniprot_sec
B4E1G6
resolver
amino_acid_sequence
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRRRQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL
uniprot
proteins
disease_involvement
DISEASE: Galactosemia 2 (GALAC2) [MIM:230200]: A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive. {ECO:0000269|PubMed:10521295, ECO:0000269|PubMed:10790206, ECO:0000269|PubMed:11139256, ECO:0000269|PubMed:11231902, ECO:0000269|PubMed:12694189, ECO:0000269|PubMed:15024738, ECO:0000269|PubMed:7670469}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.6
uniprot
proteins
function
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. {ECO:0000269|PubMed:12694189, ECO:0000269|PubMed:7542884}.
uniprot
proteins
mass_dalton
42272
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; galactose metabolism. {ECO:0000269|PubMed:12694189, ECO:0000269|PubMed:7542884}.
uniprot
proteins
protein_family
GHMP kinase family
uniprot
proteins
protein_family
GalK subfamily
uniprot
proteins
pubmed
10521295
uniprot
proteins
pubmed
10790206
uniprot
proteins
pubmed
11139256
uniprot
proteins
pubmed
11231902
uniprot
proteins
pubmed
12694189
uniprot
proteins
pubmed
12942049
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15024738
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15590630
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7542884
uniprot
proteins
pubmed
7670469
uniprot
proteins
pubmed
8908517
uniprot
proteins
sequence_length
392
uniprot
proteins