CHSY1
entrez
22856
canonical
uniprot
Q86X52
canonical
ensembl
ENSG00000131873
resolver
ensp
ENSP00000254190
resolver
enst
ENST00000254190
resolver
genesymbol
CHSY1
resolver
genesymbol_syn
CHSY
resolver
genesymbol_syn
CSS1
resolver
genesymbol_syn
KIAA0990
resolver
hgnc
HGNC:17198
resolver
uniprot
Q6UX38
resolver
uniprot
Q7LFU5
resolver
uniprot
Q9Y2J5
resolver
uniprot_entry
CHSS1_HUMAN
resolver
uniprot_sec
Q6UX38
resolver
uniprot_sec
Q7LFU5
resolver
uniprot_sec
Q9Y2J5
resolver
amino_acid_sequence
MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQLWPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVDDSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGVIMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYENYEQNKKGYIRDLHNSKIHQAITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIHKEDLQLGIPPSFMRFQPRQREEILEWEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANAKTRGRIIDFKEIQYGYRRVNPMYGAEYILDLLLLYKKHKGKKMTVPVRRHAYLQQTFSKIQFVEHEELDAQELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSEHKEPKDKKINILIPLSGRFDMFVRFMGNFEKTCLIPNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQILPVSGEFSRALALEVGSSQFNNESLLFFCDVDLVFTTEFLQRCRANTVLGQQIYFPIIFSQYDPKIVYSGKVPSDNHFAFTQKTGFWRNYGFGITCIYKGDLVRVGGFDVSIQGWGLEDVDLFNKVVQAGLKTFRSQEVGVVHVHHPVFCDPNLDPKQYKMCLGSKASTYGSTQQLAEMWLEKNDPSYSKSSNNNGSVRTA
uniprot
proteins
disease_involvement
DISEASE: Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]: A syndrome characterized by multiple congenital anomalies, intellectual disability, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. {ECO:0000269|PubMed:21129727, ECO:0000269|PubMed:21129728}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.175
uniprot
proteins
ec_number
2.4.1.226
uniprot
proteins
function
FUNCTION: Catalytic component of CHSY1-CHPF2 and CHSY1-CHPF chondroitin sulfate synthase complexes (PubMed:41298522). Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer (PubMed:11514575, PubMed:12716890). Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. {ECO:0000269|PubMed:11514575, ECO:0000269|PubMed:12716890, ECO:0000269|PubMed:21129727, ECO:0000269|PubMed:41298522}.
uniprot
proteins
mass_dalton
91784
uniprot
proteins
protein_family
Chondroitin N-acetylgalactosaminyltransferase family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
11514575
uniprot
proteins
pubmed
12716890
uniprot
proteins
pubmed
12907687
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21129727
uniprot
proteins
pubmed
21129728
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
41298522
uniprot
proteins
sequence_length
802
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305|PubMed:11514575}; Single-pass type II membrane protein {ECO:0000305|PubMed:11514575}. Secreted {ECO:0000269|PubMed:21129727}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins