Entity Details

Primary name NDST1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP52848
EntryNameNDST1_HUMAN
FullNameBifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1
TaxID9606
Evidenceevidence at protein level
Length882
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesNDST1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0003279 cardiac septum development
GO:0005794 Golgi apparatus
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006477 protein sulfation
GO:0006954 inflammatory response
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0008283 cell population proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0015016 [heparan sulfate]-glucosamine N-sulfotransferase activity
GO:0016021 integral component of membrane
GO:0019213 deacetylase activity
GO:0030210 heparin biosynthetic process
GO:0030900 forebrain development
GO:0030901 midbrain development
GO:0035904 aorta development
GO:0043410 positive regulation of MAPK cascade
GO:0045880 positive regulation of smoothened signaling pathway
GO:0048702 embryonic neurocranium morphogenesis
GO:0048703 embryonic viscerocranium morphogenesis
GO:0060976 coronary vasculature development
GO:0102140 heparan sulfate N-deacetylase activity

Subcellular Location

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Subcellular Location
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR000863 Sulfotransferase domainDomainDomain
IPR021930 Heparan sulphate-N-deacetylaseDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR037359 Heparan sulfate sulfotransferaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
616116 OMIMMental retardation, autosomal recessive 46 (MRT46)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self-injurious behavior, and sleep disturbances. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01812 Adenosine 3',5'-diphosphateDrugbanksmall molecule

Interactions

0 interactions

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