CHST14
entrez
113189
canonical
uniprot
Q8NCH0
canonical
ensembl
ENSG00000169105
resolver
ensp
ENSP00000307297
resolver
enst
ENST00000306243
resolver
genesymbol
CHST14
resolver
genesymbol_syn
D4ST1
resolver
hgnc
HGNC:24464
resolver
uniprot
Q6PJ31
resolver
uniprot
Q6UXA0
resolver
uniprot
Q96P94
resolver
uniprot_entry
CHSTE_HUMAN
resolver
uniprot_sec
Q6PJ31
resolver
uniprot_sec
Q6UXA0
resolver
uniprot_sec
Q96P94
resolver
amino_acid_sequence
MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMIERGILAEMKPLPLHPPGREGTAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACSNWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRNKFGEIREYQQRYGAEIVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWMPVYHLCQPCAVHYDFVGSYERLEADANQVLEWVRAPPHVRFPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFSLFAYPLPNVTKEACQQ
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]: A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. {ECO:0000269|PubMed:20004762, ECO:0000269|PubMed:20533528, ECO:0000269|PubMed:20842734}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.2.35
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development. {ECO:0000269|PubMed:19661164}.
uniprot
proteins
mass_dalton
42997
uniprot
proteins
protein_family
Sulfotransferase 2 family
uniprot
proteins
pubmed
11470797
uniprot
proteins
pubmed
12847091
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19661164
uniprot
proteins
pubmed
20004762
uniprot
proteins
pubmed
20533528
uniprot
proteins
pubmed
20842734
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 40..60; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins