GALNT17
entrez
64409
canonical
uniprot
Q6IS24
canonical
ensembl
ENSG00000185274
resolver
ensp
ENSP00000329654
resolver
enst
ENST00000333538
resolver
genesymbol
GALNT17
resolver
genesymbol
GALNT19
resolver
genesymbol_syn
WBSCR17
resolver
hgnc
HGNC:16347
resolver
uniprot
Q2L4S5
resolver
uniprot
Q8NFV9
resolver
uniprot
Q9NTA8
resolver
uniprot_entry
GLT17_HUMAN
resolver
uniprot_entry
Q2L4S5_HUMAN
resolver
uniprot_sec
Q8NFV9
resolver
uniprot_sec
Q9NTA8
resolver
amino_acid_sequence
MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPATLSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIFVNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVVRNQKREGLIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSIDNIKQDNFEVQRYENSAHGYSWELWCMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSRVAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYLDHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQLARYTKEGFLHLGALGTTTLLPDTRCLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRWTIKNSIK
uniprot
proteins
disease_involvement
DISEASE: Note=WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
uniprot
proteins
ec_number
2.4.1.41
uniprot
proteins
function
FUNCTION: May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. {ECO:0000250|UniProtKB:Q9HCQ5}.
uniprot
proteins
mass_dalton
67751
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000250|UniProtKB:Q9HCQ5}.
uniprot
proteins
protein_family
GalNAc-T subfamily
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
12073013
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
sequence_length
598
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins