B3GALT6
entrez
126792
canonical
uniprot
Q96L58
canonical
ensembl
ENSG00000176022
resolver
ensp
ENSP00000368496
resolver
enst
ENST00000379198
resolver
genesymbol
B3GALT6
resolver
hgnc
HGNC:17978
resolver
uniprot
Q5T7M5
resolver
uniprot_entry
B3GT6_HUMAN
resolver
uniprot_sec
Q5T7M5
resolver
amino_acid_sequence
MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. {ECO:0000269|PubMed:23664117, ECO:0000269|PubMed:24766538, ECO:0000269|PubMed:29443383, ECO:0000269|PubMed:29620724, ECO:0000269|PubMed:29931299}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. {ECO:0000269|PubMed:23664117, ECO:0000269|PubMed:23664118, ECO:0000269|PubMed:24766538, ECO:0000269|PubMed:27023906, ECO:0000269|PubMed:28649518, ECO:0000269|PubMed:29443383, ECO:0000269|PubMed:29620724}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Al-Gazali syndrome (ALGAZ) [MIM:609465]: A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:25149931, ECO:0000269|PubMed:29443383}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.134
uniprot
proteins
function
FUNCTION: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues. {ECO:0000269|PubMed:11551958, ECO:0000269|PubMed:23664117, ECO:0000269|PubMed:29443383}.
uniprot
proteins
mass_dalton
37138
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; chondroitin sulfate biosynthesis. {ECO:0000269|PubMed:11551958}.; PATHWAY: Glycan metabolism; heparan sulfate biosynthesis. {ECO:0000269|PubMed:11551958}.
uniprot
proteins
protein_family
Glycosyltransferase 31 family
uniprot
proteins
pubmed
11551958
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
23664117
uniprot
proteins
pubmed
23664118
uniprot
proteins
pubmed
24766538
uniprot
proteins
pubmed
25149931
uniprot
proteins
pubmed
27023906
uniprot
proteins
pubmed
28649518
uniprot
proteins
pubmed
29443383
uniprot
proteins
pubmed
29620724
uniprot
proteins
pubmed
29931299
uniprot
proteins
pubmed
9892646
uniprot
proteins
sequence_length
329
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:11551958, ECO:0000269|PubMed:29443383}; Single-pass type II membrane protein {ECO:0000269|PubMed:11551958}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..34; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins