NDST1

Chr 5q33.1

N-deacetylase and N-sulfotransferase 1

Aliases:: NST1
MANE:: ENST00000261797.7

OMIM: 600853 ↗NCBI: 3340 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NDST1 · P52848

v62025-08-01

Predicted Aligned Error matrix for NDST1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.0/ 100

Very high

882 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)8%
Low(50–70)3%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive non-syndromic intellectual disability
0.65
Abnormality of the skeletal system
0.50
Intellectual disability
0.38
osteoarthritis, knee
0.36
osteoarthritis, hip
0.36
Global developmental delay
0.27
Graves disease
0.25
hereditary disease
0.19
cleft lip/palate
0.13
Congenital pulmonary alveolar proteinosis
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1

Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate (PubMed:35137078, PubMed:9230113, PubMed:9744796). 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)