CHST3
entrez
9469
canonical
uniprot
Q7LGC8
canonical
ensembl
ENSG00000122863
resolver
ensp
ENSP00000362207
resolver
ensp
ENSP00000549065
resolver
ensp
ENSP00000613303
resolver
enst
ENST00000373115
resolver
enst
ENST00000879006
resolver
enst
ENST00000943244
resolver
genesymbol
CHST3
resolver
hgnc
HGNC:1971
resolver
uniprot
O75099
resolver
uniprot
Q52M30
resolver
uniprot_entry
CHST3_HUMAN
resolver
uniprot_sec
O75099
resolver
uniprot_sec
Q52M30
resolver
amino_acid_sequence
MEKGLTLPQDCRDFVHSLKMRSKYALFLVFVVIVFVFIEKENKIISRVSDKLKQIPQALADANSTDPALILAENASLLSLSELDSAFSQLQSRLRNLSLQLGVEPAMEAAGEEEEEQRKEEEPPRPAVAGPRRHVLLMATTRTGSSFVGEFFNQQGNIFYLFEPLWHIERTVSFEPGGANAAGSALVYRDVLKQLFLCDLYVLEHFITPLPEDHLTQFMFRRGSSRSLCEDPVCTPFVKKVFEKYHCKNRRCGPLNVTLAAEACRRKEHMALKAVRIRQLEFLQPLAEDPRLDLRVIQLVRDPRAVLASRMVAFAGKYKTWKKWLDDEGQDGLREEEVQRLRGNCESIRLSAELGLRQPAWLRGRYMLVRYEDVARGPLQKAREMYRFAGIPLTPQVEDWIQKNTQAAHDGSGIYSTQKNSSEQFEKWRFSMPFKLAQVVQAACGPAMRLFGYKLARDAAALTNRSVSLLEERGTFWVT
uniprot
proteins
disease_involvement
DISEASE: Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. {ECO:0000269|PubMed:15215498, ECO:0000269|PubMed:18513679}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.2.17
uniprot
proteins
ec_number
2.8.2.21
uniprot
proteins
function
FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:9883891). Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices (PubMed:9714738). Catalyzes with a lower efficiency the sulfation of Gal residues of keratan sulfate, another glycosaminoglycan (PubMed:9714738). Can also catalyze the sulfation of the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides (By similarity). May play a role in the maintenance of naive T-lymphocytes in the spleen (By similarity). {ECO:0000250|UniProtKB:O88199, ECO:0000250|UniProtKB:Q92179, ECO:0000269|PubMed:15215498, ECO:0000269|PubMed:9714738, ECO:0000269|PubMed:9883891, ECO:0000303|PubMed:9714738}.
uniprot
proteins
mass_dalton
54706
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q92179}.
uniprot
proteins
protein_family
Gal/GlcNAc/GalNAc subfamily
uniprot
proteins
protein_family
Sulfotransferase 1 family
uniprot
proteins
pubmed
15215498
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18513679
uniprot
proteins
pubmed
9714738
uniprot
proteins
pubmed
9883891
uniprot
proteins
sequence_length
479
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..38; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins