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NDST1

This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgiapparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants.
Full Name
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Function
Isoform 1:
Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate (PubMed:9230113, PubMed:9744796, PubMed:35137078).

Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:9230113).

Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response (By similarity).

Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Isoform 3:
Lacks both N-deacetylase and N-sulfotransferase activities. Acts as a dominant negative on isoform 1, likely by changing the composition of enzyme complexes responsible for elongation and modification of heparan sulfates.
Biological Process
Aorta development Source: Ensembl
Cardiac septum development Source: Ensembl
Cell population proliferation Source: Ensembl
Coronary vasculature development Source: Ensembl
Embryonic neurocranium morphogenesis Source: Ensembl
Embryonic viscerocranium morphogenesis Source: Ensembl
Fibroblast growth factor receptor signaling pathway Source: Ensembl
Forebrain development Source: Ensembl
Glycosaminoglycan biosynthetic process Source: Reactome
Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: UniProtKB
Heparin biosynthetic process Source: UniProtKB-UniPathway
Inflammatory response Source: UniProtKB-KW
Midbrain development Source: Ensembl
Positive regulation of MAPK cascade Source: Ensembl
Positive regulation of smoothened signaling pathway Source: Ensembl
Protein sulfation Source: Ensembl
Respiratory gaseous exchange by respiratory system Source: Ensembl
Cellular Location
Isoform 1:
Golgi apparatus
trans-Golgi network membrane
cis-Golgi network membrane
Isoform 3:
Golgi apparatus
cis-Golgi network membrane
Involvement in disease
Mental 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.
Topology
Cytoplasmic: 1-17
Helical: 18-39
Lumenal: 40-882

Anti-NDST1 antibodies

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Target: NDST1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 2F11
Application*: E, WB
Target: NDST1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBWJN-0076
Application*: E, IH, WB
Target: NDST1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 1G10
Application*: E, P, WB
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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