Homo sapiens Gene: CSGALNACT1
Summary
InnateDB Gene IDBG-9548.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CSGALNACT1
Gene Name chondroitin sulfate N-acetylgalactosaminyltransferase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000147408
Encoded Proteins
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Currently no Entrez Summary Available. You might want to check the Summary Sections of the Orthologs.
Gene Information
Type Protein coding
Genomic Location Chromosome 8:19404161-19758029
Strand Reverse strand
Band p21.3
Transcripts
ENST00000332246 ENSP00000330805
ENST00000397998 ENSP00000381084
ENST00000454498 ENSP00000411816
ENST00000522854 ENSP00000429809
ENST00000518542
ENST00000519222 ENSP00000428216
ENST00000523262 ENSP00000428089
ENST00000517494 ENSP00000429130
ENST00000520003 ENSP00000428774
ENST00000524213 ENSP00000427740
ENST00000517651
ENST00000523227
ENST00000522732
ENST00000522573
ENST00000523919
ENST00000524112
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008376 acetylgalactosaminyltransferase activity
GO:0008955 peptidoglycan glycosyltransferase activity
GO:0015020 glucuronosyltransferase activity
GO:0016758 transferase activity, transferring hexosyl groups
GO:0046872 metal ion binding
GO:0047237 glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
Biological Process
GO:0001958 endochondral ossification
GO:0005975 carbohydrate metabolic process
GO:0007399 nervous system development
GO:0008037 cell recognition
GO:0008283 cell proliferation
GO:0009653 anatomical structure morphogenesis
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0019276 UDP-N-acetylgalactosamine metabolic process
GO:0030166 proteoglycan biosynthetic process
GO:0030198 extracellular matrix organization
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030210 heparin biosynthetic process
GO:0044281 small molecule metabolic process
GO:0046398 UDP-glucuronate metabolic process
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process
GO:0050651 dermatan sulfate proteoglycan biosynthetic process
GO:0050653 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0051216 cartilage development
Cellular Component
GO:0000139 Golgi membrane
GO:0005622 intracellular
GO:0030173 integral component of Golgi membrane
GO:0032580 Golgi cisterna membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Chondroitin sulfate biosynthesis pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8TDX6
TrEMBL E5RGB2 E5RJB6 E5RK93
UniProt Splice Variant
Entrez Gene 55790
UniGene Hs.613729 Hs.721954
RefSeq NM_018371 NM_001130518 XM_006716365 XM_006716363 XM_006716362 XM_006716361 XM_006716360 XM_006716359 XM_006716358 XM_006716364 XM_006716366
HUGO HGNC:24290
OMIM
CCDS CCDS6010
HPRD 13114
IMGT
EMBL AB071403 AB081516 AC090541 AC090786 AC116376 AK002126 AK314625 AL157483 AY358441 BC060772
GenPept AAH60772 AAQ88806 BAA92093 BAB85992 BAC16217 BAG37191 CAB75673
RNA Seq Atlas 55790