ST6GALNAC1
entrez
55808
canonical
uniprot
Q9NSC7
canonical
ensembl
ENSG00000070526
resolver
ensp
ENSP00000156626
resolver
ensp
ENSP00000649636
resolver
enst
ENST00000156626
resolver
genesymbol
ST6GALNAC1
resolver
genesymbol_syn
SIAT7A
resolver
hgnc
HGNC:23614
resolver
uniprot
Q6UW90
resolver
uniprot
Q9NSC6
resolver
uniprot_entry
SIA7A_HUMAN
resolver
uniprot_sec
Q6UW90
resolver
uniprot_sec
Q9NSC6
resolver
amino_acid_sequence
MRSCLWRCRHLSQGVQWSLLLAVLVFFLFALPSFIKEPQTKPSRHQRTENIKERSLQSLAKPKSQAPTRARRTTIYAEPVPENNALNTQTQPKAHTTGDRGKEANQAPPEEQDKVPHTAQRAAWKSPEKEKTMVNTLSPRGQDAGMASGRTEAQSWKSQDTKTTQGNGGQTRKLTASRTVSEKHQGKAATTAKTLIPKSQHRMLAPTGAVSTRTRQKGVTTAVIPPKEKKPQATPPPAPFQSPTTQRNQRLKAANFKSEPRWDFEEKYSFEIGGLQTTCPDSVKIKASKSLWLQKLFLPNLTLFLDSRHFNQSEWDRLEHFAPPFGFMELNYSLVQKVVTRFPPVPQQQLLLASLPAGSLRCITCAVVGNGGILNNSHMGQEIDSHDYVFRLSGALIKGYEQDVGTRTSFYGFTAFSLTQSLLILGNRGFKNVPLGKDVRYLHFLEGTRDYEWLEALLMNQTVMSKNLFWFRHRPQEAFREALHMDRYLLLHPDFLRYMKNRFLRSKTLDGAHWRIYRPTTGALLLLTALQLCDQVSAYGFITEGHERFSDHYYDTSWKRLIFYINHDFKLEREVWKRLHDEGIIRLYQRPGPGTAKAKN
uniprot
proteins
disease_involvement
DISEASE: Note=Inflammatory bowel disease (PubMed:35303419). A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology (PubMed:35303419). It is subdivided into Crohn disease and ulcerative colitis phenotypes (PubMed:35303419). Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon (PubMed:35303419). Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas (PubMed:35303419). In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed (PubMed:35303419). Both diseases include extraintestinal inflammation of the skin, eyes, or joints (PubMed:35303419). Disease susceptibility is associated with variants affecting the gene represented in this entry (PubMed:35303419). {ECO:0000269|PubMed:35303419}.
uniprot
proteins
ec_number
2.4.3.3
uniprot
proteins
function
FUNCTION: Protein sialyltransferase specifically expressed in goblet cells that plays a key role in intestinal host-commensal homeostasis (PubMed:35303419). Conjugates sialic acid with an alpha-2-6 linkage to N-acetylgalactosamine (GalNAc) glycan chains linked to serine or threonine in glycoproteins (PubMed:10536037, PubMed:15466199, PubMed:16319059, PubMed:31719620, PubMed:35303419). Catalyzes the formation of the sialyl-Tn (S-Tn) antigen, an antigen found in intestinal goblet cells, as well as ulcerative colitis (UC) and various cancers (PubMed:15466199, PubMed:16319059, PubMed:31719620, PubMed:35303419). Protein sialylation in globlet cells is essential for mucus integrity and is required to protect the intestinal mucus against excessive bacterial proteolytic degradation (PubMed:35303419). {ECO:0000269|PubMed:10536037, ECO:0000269|PubMed:15466199, ECO:0000269|PubMed:16319059, ECO:0000269|PubMed:31719620, ECO:0000269|PubMed:35303419}.
uniprot
proteins
mass_dalton
68564
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:16319059, ECO:0000269|PubMed:35303419}.
uniprot
proteins
post_translational_modification
PTM: Glycosylated; autosialylated. {ECO:0000269|PubMed:35303419}.
uniprot
proteins
protein_family
Glycosyltransferase 29 family
uniprot
proteins
pubmed
10536037
uniprot
proteins
pubmed
12820722
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15466199
uniprot
proteins
pubmed
16319059
uniprot
proteins
pubmed
31719620
uniprot
proteins
pubmed
35303419
uniprot
proteins
sequence_length
600
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:16319059, ECO:0000269|PubMed:35303419}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..35; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins