B4GALT7
entrez
11285
canonical
uniprot
Q9UBV7
canonical
ensembl
ENSG00000027847
resolver
ensp
ENSP00000029410
resolver
ensp
ENSP00000636241
resolver
enst
ENST00000029410
resolver
genesymbol
B4GALT7
resolver
genesymbol_syn
XGALT1
resolver
hgnc
HGNC:930
resolver
uniprot
B3KMT1
resolver
uniprot
B3KN39
resolver
uniprot
Q9UHN2
resolver
uniprot_entry
B3KMT1_HUMAN
resolver
uniprot_entry
B4GT7_HUMAN
resolver
uniprot_sec
B3KN39
resolver
uniprot_sec
Q9UHN2
resolver
amino_acid_sequence
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. {ECO:0000269|PubMed:10506123}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
ec_number
2.4.1.133
uniprot
proteins
function
FUNCTION: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. {ECO:0000269|PubMed:24052259}.
uniprot
proteins
mass_dalton
37406
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
protein_family
Glycosyltransferase 7 family
uniprot
proteins
pubmed
10438455
uniprot
proteins
pubmed
10473568
uniprot
proteins
pubmed
10506123
uniprot
proteins
pubmed
10580128
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24052259
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.
uniprot
proteins
transmembrane_region
TRANSMEM 31..51; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins