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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NDST1
N-deacetylase and N-sulfotransferase 1
Chromosome 5 Β· 5q33.1
NCBI Gene: 3340Ensembl: ENSG00000070614.16HGNC: HGNC:7680UniProt: A8K8T3
49PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingheparan sulfate N-sulfotransferase activityheparan sulfate N-deacetylase activitytrans-Golgi network membraneautosomal recessive non-syndromic intellectual disabilityAbnormality of the skeletal systemIntellectual disabilityosteoarthritis, knee
✦AI Summary

NDST1 encodes a bifunctional enzyme that catalyzes both N-deacetylation and N-sulfation of N-acetyl-glucosamine residues during heparan sulfate (HS) biosynthesis 1. This enzymatic activity is essential for determining the overall structure and sulfation degree of HS polysaccharide chains, which influences downstream enzymatic modifications 1. NDST1 functions within a complex of HS biosynthetic enzymes, forming what has been termed a "GAGosome," where it interacts with other enzymes like EXT2 to regulate HS biosynthesis 2. The enzyme is particularly critical for fibroblast growth factor (FGF) signaling, as NDST1 deficiency reduces FGF protein binding to their receptors and disrupts downstream phospho-Erk signaling 3. Loss-of-function mutations in NDST1 cause autosomal recessive intellectual disability, with affected individuals showing complete loss of N-sulfotransferase activity while retaining N-deacetylase function 14. NDST1 shows the highest and most homogeneous expression in human cerebral structures compared to other NDST family members 1. In mice, Ndst1 knockout results in severe developmental defects including cerebral hypoplasia, lack of olfactory bulbs, eye defects, and craniofacial abnormalities, with homozygous null mutations being perinatally lethal 54.

Sources cited
1
NDST1 encodes a bifunctional enzyme with N-deacetylase and N-sulfotransferase activities, shows highest expression in cerebral structures, and loss-of-function mutations cause intellectual disability
PMID: 38129107
2
NDST1 functions within a complex of HS biosynthetic enzymes called GAGosome and interacts with EXT2
PMID: 18337501
3
NDST1 is critical for FGF signaling by enabling FGF protein binding to receptors and maintaining phospho-Erk signaling
PMID: 17107998
4
NDST1 mutations cause autosomal recessive intellectual disability and homozygous null mutations are perinatally lethal in mice
PMID: 25125150
5
Ndst1 knockout mice show severe developmental defects including cerebral hypoplasia, lack of olfactory bulbs, eye defects, and craniofacial abnormalities
PMID: 16020517
Disease Associationsβ“˜21
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.65Moderate
Abnormality of the skeletal systemOpen Targets
0.48Moderate
Intellectual disabilityOpen Targets
0.37Weak
osteoarthritis, hipOpen Targets
0.34Weak
osteoarthritis, kneeOpen Targets
0.34Weak
Graves diseaseOpen Targets
0.28Weak
Global developmental delayOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
cleft lip/palateOpen Targets
0.12Weak
infectionOpen Targets
0.08Suggestive
myeloid sarcomaOpen Targets
0.07Suggestive
Congenital pulmonary alveolar proteinosisOpen Targets
0.07Suggestive
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
surfactant metabolism dysfunction, pulmonary, 1Open Targets
0.06Suggestive
HeterotaxiaOpen Targets
0.05Suggestive
surfactant metabolism dysfunction, pulmonary, 2Open Targets
0.05Suggestive
autoimmune pulmonary alveolar proteinosisOpen Targets
0.05Suggestive
syndromic orbital border hypoplasiaOpen Targets
0.05Suggestive
congenital lobar emphysemaOpen Targets
0.05Suggestive
Intellectual developmental disorder, autosomal recessive 46UniProt
Pathogenic Variants4
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)Pathogenic
Intellectual disability, autosomal recessive 46|not provided|Global developmental delay|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 611
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)Likely pathogenic
Intellectual disability, autosomal recessive 46
β˜…β˜†β˜†β˜†2020β†’ Residue 640
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln)Pathogenic
Intellectual disability, autosomal recessive 46
β˜†β˜†β˜†β˜†2014β†’ Residue 709
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp)Pathogenic
Intellectual disability, autosomal recessive 46
β˜†β˜†β˜†β˜†2014β†’ Residue 642
View on ClinVar β†—
Related Genes
NDST4Shared pathway100%NDST3Shared pathway100%NDST2Shared pathway100%EXT2Protein interaction95%SULT1C3Protein interaction90%SULT1C4Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Heart
89%
Lung
77%
Ovary
62%
Brain
59%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
NDST1NDST4NDST3NDST2EXT2SULT1C3SULT1C4
PROTEIN STRUCTURE
Preparing viewer…
PDB1NST Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.36 [0.28–0.48]
RankingsWhere NDST1 stands among ~20K protein-coding genes
  • #8,984of 20,598
    Most Researched49
  • #3,797of 5,498
    Most Pathogenic Variants4
  • #2,843of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedNDST1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Polystyrene Nanoplastics Activate Autophagy and Suppress Trophoblast Cell Migration/Invasion and Migrasome Formation to Induce Miscarriage.
PMID: 38252510
ACS Nano Β· 2024
1.00
2
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
PMID: 38129107
Hum Mol Genet Β· 2024
0.90
3
Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function.
PMID: 16020517
Development Β· 2005
0.80
4
Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.
PMID: 39630030
Essays Biochem Β· 2024
0.70
5
Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.
PMID: 18337501
Proc Natl Acad Sci U S A Β· 2008
0.60