CSGALNACT1
entrez
55790
canonical
uniprot
Q8TDX6
canonical
ensembl
ENSG00000147408
resolver
ensp
ENSP00000330805
resolver
ensp
ENSP00000411816
resolver
ensp
ENSP00000509853
resolver
ensp
ENSP00000512242
resolver
ensp
ENSP00000512244
resolver
ensp
ENSP00000512246
resolver
ensp
ENSP00000512247
resolver
ensp
ENSP00000512248
resolver
ensp
ENSP00000565913
resolver
ensp
ENSP00000565914
resolver
ensp
ENSP00000565918
resolver
ensp
ENSP00000565919
resolver
ensp
ENSP00000565920
resolver
ensp
ENSP00000565925
resolver
ensp
ENSP00000565926
resolver
ensp
ENSP00000565927
resolver
ensp
ENSP00000565928
resolver
ensp
ENSP00000620573
resolver
ensp
ENSP00000620575
resolver
ensp
ENSP00000620576
resolver
ensp
ENSP00000620577
resolver
ensp
ENSP00000620581
resolver
ensp
ENSP00000620583
resolver
ensp
ENSP00000620587
resolver
ensp
ENSP00000620588
resolver
ensp
ENSP00000620610
resolver
ensp
ENSP00000620612
resolver
ensp
ENSP00000620613
resolver
ensp
ENSP00000620616
resolver
ensp
ENSP00000620617
resolver
ensp
ENSP00000620618
resolver
ensp
ENSP00000620619
resolver
ensp
ENSP00000620620
resolver
ensp
ENSP00000620621
resolver
genesymbol
CSGALNACT1
resolver
genesymbol_syn
CHGN
resolver
genesymbol_syn
GALNACT1
resolver
hgnc
HGNC:24290
resolver
uniprot
B2RBE4
resolver
uniprot
Q6P9G6
resolver
uniprot
Q8IUF9
resolver
uniprot
Q9NSQ7
resolver
uniprot
Q9NUM9
resolver
uniprot_entry
CGAT1_HUMAN
resolver
uniprot_sec
B2RBE4
resolver
uniprot_sec
Q6P9G6
resolver
uniprot_sec
Q8IUF9
resolver
uniprot_sec
Q9NSQ7
resolver
uniprot_sec
Q9NUM9
resolver
amino_acid_sequence
MMMVRRGLLAWISRVVVLLVLLCCAISVLYMLACTPKGDEEQLALPRANSPTGKEGYQAVLQEWEEQHRNYVSSLKRQIAQLKEELQERSEQLRNGQYQASDAAGLGLDRSPPEKTQADLLAFLHSQVDKAEVNAGVKLATEYAAVPFDSFTLQKVYQLETGLTRHPEEKPVRKDKRDELVEAIESALETLNSPAENSPNHRPYTASDFIEGIYRTERDKGTLYELTFKGDHKHEFKRLILFRPFGPIMKVKNEKLNMANTLINVIVPLAKRVDKFRQFMQNFREMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQLGMLVFRHEIEAHLRKQKQKTSSKKT
uniprot
proteins
disease_involvement
DISEASE: Skeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA) [MIM:618870]: An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism. {ECO:0000269|PubMed:27599773, ECO:0000269|PubMed:31325655, ECO:0000269|PubMed:31705726}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.174
uniprot
proteins
function
FUNCTION: Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758, PubMed:31705726). Moreover, is involved in the metabolism of aggrecan (By similarity). {ECO:0000250|UniProtKB:Q8BJQ9, ECO:0000269|PubMed:11788602, ECO:0000269|PubMed:12163485, ECO:0000269|PubMed:12446672, ECO:0000269|PubMed:17145758, ECO:0000269|PubMed:21160489, ECO:0000269|PubMed:27599773, ECO:0000269|PubMed:31705726}.
uniprot
proteins
mass_dalton
61294
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:11788602}.
uniprot
proteins
protein_family
Chondroitin N-acetylgalactosaminyltransferase family
uniprot
proteins
pubmed
11788602
uniprot
proteins
pubmed
12163485
uniprot
proteins
pubmed
12446672
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17145758
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21160489
uniprot
proteins
pubmed
27599773
uniprot
proteins
pubmed
31325655
uniprot
proteins
pubmed
31705726
uniprot
proteins
sequence_length
532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305|PubMed:11788602}; Single-pass type II membrane protein {ECO:0000305|PubMed:11788602}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..35; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins