Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndst1provided by MGI
Official Full Name: N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1provided by MGI
Primary source: MGI:MGI:104719
See related: Ensembl:ENSMUSG00000054008 AllianceGenome:MGI:104719
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hsst; HSNST; N-HSST; NDST-1; HSNST 1; N-HSST 1; b2b2230Clo; 1200015G06Rik
Summary: Enables deacetylase activity and sulfotransferase activity. Acts upstream of or within several processes, including animal organ development; positive regulation of signal transduction; and protein sulfation. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; future brain; integumental system; nervous system; and respiratory system. Used to study DiGeorge syndrome; congenital diaphragmatic hernia; and newborn respiratory distress syndrome. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human NDST1 (N-deacetylase and N-sulfotransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 78.1), adrenal adult (RPKM 46.2) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 34.38 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (60817566..60907465, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (60684494..60749035, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuronal Ndst1 depletion accelerates prion protein clearance and slows neurodegeneration in prion infection.
Title: Neuronal Ndst1 depletion accelerates prion protein clearance and slows neurodegeneration in prion infection.
Overexpression of NDST1 Attenuates Fibrotic Response in Murine Adipose-Derived Stem Cells.
Title: Overexpression of NDST1 Attenuates Fibrotic Response in Murine Adipose-Derived Stem Cells.
Functional Cellular Anti-Tumor Mechanisms are Augmented by Genetic Proteoglycan Targeting.
Title: Functional Cellular Anti-Tumor Mechanisms are Augmented by Genetic Proteoglycan Targeting.
Transplant of donor allografts with conditional Ndst1 deficiency exhibit significantly reduced acute rejection, comparable to systemic chemokine-GAG inhibition. Modified disaccharides in engrafted organs correlate with reduced rejection.
Title: Selective Deletion of Heparan Sulfotransferase Enzyme, Ndst1, in Donor Endothelial and Myeloid Precursor Cells Significantly Decreases Acute Allograft Rejection.
Tubulo-interstitial macrophage influx and fibrosis are reduced by endothelial Ndst1 deficiency in experimental diabetes.
Title: Endothelial heparan sulfate deficiency reduces inflammation and fibrosis in murine diabetic nephropathy.
An essential role for Heparin sulfate proteoglycan sulfation via NDST1,2,3 in modulating signal transduction during mouse implantation.
Title: Heparan Sulfate Proteoglycan Sulfation Regulates Uterine Differentiation and Signaling During Embryo Implantation.
Podocyte-glomerular basement membrane interactions and cytoskeletal organization are disrupted in the glomeruli of the Ndst1-/- mutant mouse model
Title: N-sulfation of heparan sulfate is critical for syndecan-4-mediated podocyte cell-matrix interactions.
Although the renal phenotype of the Ndst1(-/-) mouse is mild, the data show that heparan chain N-sulfation plays a key role in podocyte organization.
Title: Podocyte-specific deletion of NDST1, a key enzyme in the sulfation of heparan sulfate glycosaminoglycans, leads to abnormalities in podocyte organization in vivo.
Targeted ablation of Ndst1 in smooth muscle cells results in altered biomechanical properties of aorta.
Title: Vascular biomechanical properties in mice with smooth muscle specific deletion of Ndst1.
Loss of NDST1 causes defective diaphragm vascular development and congenital diaphragmatic hernia.
Title: Heparan sulfate deficiency disrupts developmental angiogenesis and causes congenital diaphragmatic hernia.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (3)

General gene information

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Markers

Ndst1 (e-PCR), detects polymorphism
- UniSTS:225833

Ndst1 (e-PCR), detects polymorphism
- UniSTS:532560

UniSTS:224353 (e-PCR)
- UniSTS:224353

Ndst1 (e-PCR), detects polymorphism
- UniSTS:547520

NoName (e-PCR)
- UniSTS:237816

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylglucosamine deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
enables [heparan sulfate]-glucosamine N-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables [heparan sulfate]-glucosamine N-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables [heparan sulfate]-glucosamine N-sulfotransferase activity	ISO Inferred from Sequence Orthology more info
enables [heparan sulfate]-glucosamine N-sulfotransferase activity	TAS Traceable Author Statement more info	PubMed
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables deacetylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
enables heparan sulfate N-deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
enables heparan sulfate N-deacetylase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac septum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryo development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic neurocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic viscerocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycosaminoglycan metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inflammatory response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within polysaccharide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein deacetylation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within protein sulfation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein sulfation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within respiratory gaseous exchange by respiratory system	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1

Names: N-heparan sulfate sulfotransferase 1; [Heparan sulfate]-glucosamine N-sulfotransferase 1

NP_001335029.1

EC 2.8.2.8

NP_001335030.1

EC 2.8.2.8

NP_001335031.1

EC 2.8.2.8

NP_001335032.1

EC 2.8.2.8

NP_001335075.1

EC 2.8.2.8

NP_032332.2

EC 2.8.2.8

XP_006525731.1

EC 2.8.2.8

XP_006525736.1

EC 2.8.2.8

XP_030106200.1

EC 2.8.2.8

XP_030106201.1

EC 2.8.2.8

XP_030106202.1

EC 2.8.2.8

XP_036016884.1

EC 2.8.2.8

XP_036016885.1

EC 2.8.2.8

XP_036016886.1

EC 2.8.2.8

XP_036016887.1

EC 2.8.2.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348100.1 → NP_001335029.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).

Source sequence(s)

AC139759, AI844370, AK004787, AK035642, BC079561

Consensus CDS

CCDS37834.1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
NM_001348101.1 → NP_001335030.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).

Source sequence(s)

AC139759, AI844370, AK004787, AK035642, BC079561

Consensus CDS

CCDS37834.1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Related

ENSMUSP00000126623.2, ENSMUST00000169273.2

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
NM_001348102.1 → NP_001335031.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).

Source sequence(s)

AC149216, AI844370, AK004787, AK035642, BC079561

Consensus CDS

CCDS37834.1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
NM_001348103.1 → NP_001335032.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).

Source sequence(s)

AC149216, AI844370, AK004787, AK035642, BC079561

Consensus CDS

CCDS37834.1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
NM_001348146.1 → NP_001335075.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (6) has multiple differences in the 3' coding region and differs in the 3' UTR, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC149216, AK035642

UniProtKB/Swiss-Prot

Q3UHN9

Conserved Domains (1) summary

pfam12062
Location:30 → 481

HSNSD; heparan sulfate-N-deacetylase
NM_008306.5 → NP_032332.2 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1

See identical proteins and their annotated locations for NP_032332.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same isoform (1).

Source sequence(s)

AI844370, AK004787, AK035642, BC079561

Consensus CDS

CCDS37834.1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Related

ENSMUSP00000158312.2, ENSMUST00000237783.2

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

60817566..60907465 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160991.1 → XP_036016884.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
XM_030250341.1 → XP_030106201.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
XM_036160993.1 → XP_036016886.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X2

Conserved Domains (2) summary

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase

cl21551
Location:605 → 798

Sulfotransfer_3; Sulfotransferase family
XM_006525673.3 → XP_006525736.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X3

Conserved Domains (2) summary

pfam00685
Location:181 → 431

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:1 → 91

HSNSD; heparan sulfate-N-deacetylase
XM_036160994.1 → XP_036016887.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X3

Conserved Domains (2) summary

pfam00685
Location:181 → 431

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:1 → 91

HSNSD; heparan sulfate-N-deacetylase
XM_030250340.2 → XP_030106200.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
XM_030250342.1 → XP_030106202.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
XM_006525668.4 → XP_006525731.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006525731.1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase
XM_036160992.1 → XP_036016885.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform X1

UniProtKB/Swiss-Prot

O70353, Q3TBX3, Q3TDS3, Q3UHN9, Q8BZE5, Q9R206

Conserved Domains (2) summary

pfam00685
Location:605 → 855

Sulfotransfer_1; Sulfotransferase domain

pfam12062
Location:30 → 515

HSNSD; heparan sulfate-N-deacetylase