Details for: CSGALNACT1

Gene ID: 55790

Symbol: CSGALNACT1

Ensembl ID: ENSG00000147408

Description: chondroitin sulfate N-acetylgalactosaminyltransferase 1

Associated with

  • Chondroitin sulfate/dermatan sulfate metabolism
    (R-HSA-1793185)
  • Chondroitin sulfate biosynthesis
    (R-HSA-2022870)
  • Glycosaminoglycan metabolism
    (R-HSA-1630316)
  • Metabolism
    (R-HSA-1430728)
  • Metabolism of carbohydrates
    (R-HSA-71387)
  • Acetylgalactosaminyltransferase activity
    (GO:0008376)
  • Cartilage development
    (GO:0051216)
  • Chondroitin sulfate biosynthetic process
    (GO:0030206)
  • Chondroitin sulfate proteoglycan biosynthetic process
    (GO:0050650)
  • Chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
    (GO:0050653)
  • Dermatan sulfate proteoglycan biosynthetic process
    (GO:0050651)
  • Endochondral ossification
    (GO:0001958)
  • Extracellular matrix organization
    (GO:0030198)
  • Glucuronosyl-n-acetylgalactosaminyl-proteoglycan 4-beta-n-acetylgalactosaminyltransferase activity
    (GO:0047238)
  • Glucuronosyltransferase activity
    (GO:0015020)
  • Glucuronylgalactosylproteoglycan 4-beta-n-acetylgalactosaminyltransferase activity
    (GO:0047237)
  • Golgi cisterna membrane
    (GO:0032580)
  • Golgi membrane
    (GO:0000139)
  • Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
    (GO:0015014)
  • Heparin biosynthetic process
    (GO:0030210)
  • Metal ion binding
    (GO:0046872)
  • Peptidoglycan glycosyltransferase activity
    (GO:0008955)
  • Proteoglycan biosynthetic process
    (GO:0030166)
  • Udp-glucuronate metabolic process
    (GO:0046398)
  • Udp-n-acetylgalactosamine metabolic process
    (GO:0019276)

Other Information

Genular Protein ID: 3480924432

Symbol: CGAT1_HUMAN

Name: Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1

UniProtKB Accession Codes:

Q8TDX6 B2RBE4 Q6P9G6 Q8IUF9 Q9NSQ7 Q9NUM9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 EPD 1 Ensembl 14 ExpressionAtlas 1 GO 20 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 31 Rhea 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11788602

Title: Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate.

PubMed ID: 11788602

DOI: 10.1074/jbc.m111434200

PubMed ID: 12163485

Title: Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.

PubMed ID: 12163485

DOI: 10.1074/jbc.m203619200

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12446672

Title: Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate.

PubMed ID: 12446672

DOI: 10.1074/jbc.m208886200

PubMed ID: 17145758

Title: Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage.

PubMed ID: 17145758

DOI: 10.1074/jbc.m606870200

PubMed ID: 21160489

Title: Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.

PubMed ID: 21160489

DOI: 10.1038/jhg.2010.148

PubMed ID: 27599773

Title: Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) deficiency results in a mild skeletal dysplasia and joint laxity.

PubMed ID: 27599773

DOI: 10.1002/humu.23070

PubMed ID: 31325655

Title: Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

PubMed ID: 31325655

DOI: 10.1016/j.bone.2019.07.016

PubMed ID: 31705726

Title: CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

PubMed ID: 31705726

DOI: 10.1002/humu.23952

Sequence Information:

  • Length: 532
  • Mass: 61294
  • Checksum: DB76B0FD6D74FD82
  • Sequence:
    • MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV 
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL 
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL 
VEAIESALET LNSPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI 
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY 
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD 
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD 
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR 
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.