GALNT3
entrez
2591
canonical
uniprot
Q14435
canonical
ensembl
ENSG00000115339
resolver
ensp
ENSP00000376465
resolver
ensp
ENSP00000572777
resolver
ensp
ENSP00000586881
resolver
ensp
ENSP00000666859
resolver
genesymbol
GALNT3
resolver
hgnc
HGNC:4125
resolver
uniprot
Q53TG9
resolver
uniprot
Q7Z476
resolver
uniprot_entry
GALT3_HUMAN
resolver
uniprot_sec
Q53TG9
resolver
uniprot_sec
Q7Z476
resolver
amino_acid_sequence
MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQYSKEESRMERNMKNKNKMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYYTAAELKPVLDRPPQDSNAPGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISLHRDLGPDTRPPECIEQKFKRCPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLKEIILVDDASVDEYLHDKLDEYVKQFSIVKIVRQRERKGLITARLLGATVATAETLTFLDAHCECFYGWLEPLLARIAENYTAVVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWSLSFGWESLPDHEKQRRKDETYPIKTPTFAGGLFSISKEYFEYIGSYDEEMEIWGGENIEMSFRVWQCGGQLEIMPCSVVGHVFRSKSPHSFPKGTQVIARNQVRLAEVWMDEYKEIFYRRNTDAAKIVKQKAFGDLSKRFEIKHRLQCKNFTWYLNNIYPEVYVPDLNPVISGYIKSVGQPLCLDVGENNQGGKPLIMYTCHGLGGNQYFEYSAQHEIRHNIQKELCLHAAQGLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNPFLKMCLSANGEHPSLVSCNPSDPLQKWILSQND
uniprot
proteins
disease_involvement
DISEASE: Tumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1) [MIM:211900]: A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269|PubMed:15133511, ECO:0000269|PubMed:15599692}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.41
uniprot
proteins
function
FUNCTION: Catalyzes 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 (PubMed:16638743, PubMed:31932717, PubMed:8663203, PubMed:9295285). Has activity toward HIV envelope glycoprotein gp120, EA2, MUC2, MUC1A and MUC5AC (PubMed:8663203, PubMed:9295285). Probably glycosylates fibronectin in vivo (PubMed:9295285). Glycosylates FGF23 (PubMed:16638743, PubMed:31932717). {ECO:0000269|PubMed:16638743, ECO:0000269|PubMed:31932717, ECO:0000269|PubMed:8663203, ECO:0000269|PubMed:9295285}.
uniprot
proteins
mass_dalton
72610
uniprot
proteins
mutagenesis
MUTAGEN 277; /note="D->H: Loss of ability to glycosylate FGF23."; /evidence="ECO:0000269|PubMed:31932717"; MUTAGEN 510..633; /note="Missing: Loss of ability to glycosylate FGF23."; /evidence="ECO:0000269|PubMed:31932717"; MUTAGEN 519; /note="D->H: Loss of ability to glycosylate FGF23."; /evidence="ECO:0000269|PubMed:31932717
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
protein_family
GalNAc-T subfamily
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
12708471
uniprot
proteins
pubmed
15133511
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15599692
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16638743
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
31932717
uniprot
proteins
pubmed
8663203
uniprot
proteins
pubmed
9295285
uniprot
proteins
pubmed
9394011
uniprot
proteins
sequence_length
633
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:9394011}; Single-pass type II membrane protein {ECO:0000269|PubMed:9394011}. Note=Resides preferentially in the trans and medial parts of the Golgi stack.
uniprot
proteins
transmembrane_region
TRANSMEM 20..37; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins