KEGG   Homo sapiens (human): 2592
Entry
2592              CDS       T01001                                 

Gene name
GALT
Definition
(RefSeq) galactose-1-phosphate uridylyltransferase
  KO
K00965  UDPglucose--hexose-1-phosphate uridylyltransferase [EC:2.7.7.12]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00052  Galactose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
hsa04917  Prolactin signaling pathway
Module
hsa_M00554  Nucleotide sugar biosynthesis, galactose => UDP-galactose
hsa_M00632  Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1P
Network
nt06023  Galactose degradation
  Element
N00847  Galactose degradation
N00848  GALE deficiency in galactose degradation
N00849  GALT deficiency in galactose degradation
Disease
H00070  Galactosemia
H02008  Galactose-1P uridylyltransferase deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00052 Galactose metabolism
    2592 (GALT)
   00520 Amino sugar and nucleotide sugar metabolism
    2592 (GALT)
 09150 Organismal Systems
  09152 Endocrine system
   04917 Prolactin signaling pathway
    2592 (GALT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.12  UDP-glucose---hexose-1-phosphate uridylyltransferase
     2592 (GALT)
SSDB
Motif
Pfam: GalP_UDP_tr_C GalP_UDP_transf HIT
Other DBs
NCBI-GeneID: 2592
NCBI-ProteinID: NP_000146
OMIM: 606999
HGNC: 4135
Ensembl: ENSG00000213930
Vega: OTTHUMG00000019836
Pharos: P07902(Tbio)
UniProt: P07902 A0A0S2Z3Y7 B2RAT6
Structure
PDB: 
6GQD 5IN3

Position
9p13.3
AA seq 379 aa
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA
NT seq 1140 nt   +upstreamnt  +downstreamnt
atgtcgcgcagtggaaccgatcctcagcaacgccagcaggcgtcagaggcggacgccgca
gcagcaaccttccgggcaaacgaccatcagcatatccgctacaacccgctgcaggatgag
tgggtgctggtgtcagctcaccgcatgaagcggccctggcagggtcaagtggagccccag
cttctgaagacagtgccccgccatgaccctctcaaccctctgtgtcctggggccatccga
gccaacggagaggtgaatccccagtacgatagcaccttcctgtttgacaacgacttccca
gctctgcagcctgatgcccccagtccaggacccagtgatcatccccttttccaagcaaag
tctgctcgaggagtctgtaaggtcatgtgcttccacccctggtcggatgtaacgctgcca
ctcatgtcggtccctgagatccgggctgttgttgatgcatgggcctcagtcacagaggag
ctgggtgcccagtacccttgggtgcagatctttgaaaacaaaggtgccatgatgggctgt
tctaacccccacccccactgccaggtatgggccagcagtttcctgccagatattgcccag
cgtgaggagcgatctcagcaggcctataagagtcagcatggagagcccctgctaatggag
tacagccgccaggagctactcaggaaggaacgtctggtcctaaccagtgagcactggtta
gtactggtccccttctgggcaacatggccctaccagacactgctgctgccccgtcggcat
gtgcggcggctacctgagctgacccctgctgagcgtgatgatctagcctccatcatgaag
aagctcttgaccaagtatgacaacctctttgagacgtcctttccctactccatgggctgg
catggggctcccacaggatcagaggctggggccaactggaaccattggcagctgcacgct
cattactaccctccgctcctgcgctctgccactgtccggaaattcatggttggctacgaa
atgcttgctcaggctcagagggacctcacccctgagcaggctgcagagagactaagggca
cttcctgaggttcattaccacctggggcagaaggacagggagacagcaaccatcgcctga

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