GALT
entrez
2592
canonical
uniprot
P07902
canonical
ensembl
ENSG00000213930
resolver
ensp
ENSP00000368119
resolver
ensp
ENSP00000401956
resolver
genesymbol
GALT
resolver
hgnc
HGNC:4135
resolver
uniprot
A0A0S2Z3Y7
resolver
uniprot
B2RAT6
resolver
uniprot
B4E097
resolver
uniprot
E7ET32
resolver
uniprot
Q14355
resolver
uniprot
Q14356
resolver
uniprot
Q14357
resolver
uniprot
Q14358
resolver
uniprot
Q14359
resolver
uniprot
Q14360
resolver
uniprot
Q14361
resolver
uniprot
Q14363
resolver
uniprot
Q14364
resolver
uniprot
Q14365
resolver
uniprot
Q14369
resolver
uniprot
Q14370
resolver
uniprot
Q14371
resolver
uniprot
Q14372
resolver
uniprot
Q14373
resolver
uniprot
Q14374
resolver
uniprot
Q14375
resolver
uniprot
Q14377
resolver
uniprot
Q14378
resolver
uniprot
Q14380
resolver
uniprot
Q14381
resolver
uniprot
Q14382
resolver
uniprot
Q14383
resolver
uniprot
Q14384
resolver
uniprot
Q14385
resolver
uniprot
Q14386
resolver
uniprot
Q14387
resolver
uniprot
Q14389
resolver
uniprot
Q16766
resolver
uniprot
Q53XK1
resolver
uniprot
Q5VZ81
resolver
uniprot
Q96BY1
resolver
uniprot_entry
A0A0S2Z3Y7_HUMAN
resolver
uniprot_entry
B2RAT6_HUMAN
resolver
uniprot_entry
GALT_HUMAN
resolver
uniprot_sec
B4E097
resolver
uniprot_sec
E7ET32
resolver
uniprot_sec
Q14355
resolver
uniprot_sec
Q14356
resolver
uniprot_sec
Q14357
resolver
uniprot_sec
Q14358
resolver
uniprot_sec
Q14359
resolver
uniprot_sec
Q14360
resolver
uniprot_sec
Q14361
resolver
uniprot_sec
Q14363
resolver
uniprot_sec
Q14364
resolver
uniprot_sec
Q14365
resolver
uniprot_sec
Q14369
resolver
uniprot_sec
Q14370
resolver
uniprot_sec
Q14371
resolver
uniprot_sec
Q14372
resolver
uniprot_sec
Q14373
resolver
uniprot_sec
Q14374
resolver
uniprot_sec
Q14375
resolver
uniprot_sec
Q14377
resolver
uniprot_sec
Q14378
resolver
uniprot_sec
Q14380
resolver
uniprot_sec
Q14381
resolver
uniprot_sec
Q14382
resolver
uniprot_sec
Q14383
resolver
uniprot_sec
Q14384
resolver
uniprot_sec
Q14385
resolver
uniprot_sec
Q14386
resolver
uniprot_sec
Q14387
resolver
uniprot_sec
Q14389
resolver
uniprot_sec
Q16766
resolver
uniprot_sec
Q53XK1
resolver
uniprot_sec
Q5VZ81
resolver
uniprot_sec
Q96BY1
resolver
amino_acid_sequence
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA
uniprot
proteins
disease_involvement
DISEASE: Galactosemia 1 (GALAC1) [MIM:230400]: 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. GALAC1 inheritance is autosomal recessive. {ECO:0000269|PubMed:10220154, ECO:0000269|PubMed:10408771, ECO:0000269|PubMed:11754113, ECO:0000269|PubMed:11919338, ECO:0000269|PubMed:1373122, ECO:0000269|PubMed:1427861, ECO:0000269|PubMed:15841485, ECO:0000269|PubMed:1610789, ECO:0000269|PubMed:17041746, ECO:0000269|PubMed:17876724, ECO:0000269|PubMed:18956253, ECO:0000269|PubMed:1897530, ECO:0000269|PubMed:2011574, ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:23022339, ECO:0000269|PubMed:25592817, ECO:0000269|PubMed:25614870, ECO:0000269|PubMed:27005423, ECO:0000269|PubMed:7550229, ECO:0000269|PubMed:7887416, ECO:0000269|PubMed:7887417, ECO:0000269|PubMed:8112740, ECO:0000269|PubMed:8499924, ECO:0000269|PubMed:8598637, ECO:0000269|PubMed:8741038, ECO:0000269|PubMed:8869397, ECO:0000269|PubMed:8956044, ECO:0000269|PubMed:9222760}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.12
uniprot
proteins
function
FUNCTION: Plays an important role in galactose metabolism. {ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:27005423}.
uniprot
proteins
mass_dalton
43363
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; galactose metabolism. {ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:27005423}.
uniprot
proteins
protein_family
Galactose-1-phosphate uridylyltransferase type 1 family
uniprot
proteins
pubmed
10220154
uniprot
proteins
pubmed
10408771
uniprot
proteins
pubmed
11754113
uniprot
proteins
pubmed
11919338
uniprot
proteins
pubmed
1301925
uniprot
proteins
pubmed
1373122
uniprot
proteins
pubmed
1427861
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15841485
uniprot
proteins
pubmed
1610789
uniprot
proteins
pubmed
17041746
uniprot
proteins
pubmed
17876724
uniprot
proteins
pubmed
18956253
uniprot
proteins
pubmed
1897530
uniprot
proteins
pubmed
2011574
uniprot
proteins
pubmed
2233247
uniprot
proteins
pubmed
22461411
uniprot
proteins
pubmed
23022339
uniprot
proteins
pubmed
25592817
uniprot
proteins
pubmed
25614870
uniprot
proteins
pubmed
27005423
uniprot
proteins
pubmed
2840550
uniprot
proteins
pubmed
7550229
uniprot
proteins
pubmed
7887416
uniprot
proteins
pubmed
7887417
uniprot
proteins
pubmed
8112740
uniprot
proteins
pubmed
8499924
uniprot
proteins
pubmed
8598637
uniprot
proteins
pubmed
8741038
uniprot
proteins
pubmed
8869397
uniprot
proteins
pubmed
8956044
uniprot
proteins
pubmed
9222760
uniprot
proteins
sequence_length
379
uniprot
proteins