Entity Details

Primary name CHSS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86X52
EntryNameCHSS1_HUMAN
FullNameChondroitin sulfate synthase 1
TaxID9606
Evidenceevidence at protein level
Length802
SequenceStatuscomplete
DateCreated2005-02-01
DateModified2021-06-02

Ontological Relatives

GenesCHSY1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0002063 chondrocyte development
GO:0005576 extracellular region
GO:0008376 acetylgalactosaminyltransferase activity
GO:0009954 proximal/distal pattern formation
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030279 negative regulation of ossification
GO:0031667 response to nutrient levels
GO:0032580 Golgi cisterna membrane
GO:0045880 positive regulation of smoothened signaling pathway
GO:0046872 metal ion binding
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
GO:0050510 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity
GO:0051923 sulfation
GO:0060349 bone morphogenesis

Subcellular Location

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Subcellular Location
Golgi apparatus
Secreted

Domains

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DomainNameCategoryType
IPR008428 Chondroitin N-acetylgalactosaminyltransferaseFamilyFamily
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
605282 OMIMTemtamy preaxial brachydactyly syndrome (TPBS)A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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