KEGG   Homo sapiens (human): 2592Help
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
Disease
H00070  Galactosemia
H02008  Galactose-1P uridylyltransferase deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00052 Galactose metabolism
    2592 (GALT)
   00520 Amino sugar and nucleotide sugar metabolism
    2592 (GALT)
 Organismal Systems
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: GalP_UDP_tr_C GalP_UDP_transf HIT
Motif
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: 

Position
9p13.3
AA seq 379 aa AA seqDB search
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA
NT seq 1140 nt NT seq  +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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