Human Gene NDST1 (ENST00000261797.7) from GENCODE V44
  Description: Homo sapiens N-deacetylase and N-sulfotransferase 1 (NDST1), transcript variant 1, mRNA. (from RefSeq NM_001543)
RefSeq Summary (NM_001543): 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 Golgi apparatus. 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. [provided by RefSeq, Dec 2014].
Gencode Transcript: ENST00000261797.7
Gencode Gene: ENSG00000070614.15
Transcript (Including UTRs)
   Position: hg38 chr5:150,508,131-150,558,211 Size: 50,081 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr5:150,521,255-150,553,332 Size: 32,078 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:150,508,131-150,558,211)mRNA (may differ from genome)Protein (882 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDST1_HUMAN
DESCRIPTION: RecName: Full=Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1; EC=2.8.2.8; AltName: Full=Glucosaminyl N-deacetylase/N-sulfotransferase 1; Short=NDST-1; AltName: Full=N-heparan sulfate sulfotransferase 1; Short=N-HSST 1; AltName: Full=[Heparan sulfate]-glucosamine N-sulfotransferase 1; Short=HSNST 1; Includes: RecName: Full=Heparan sulfate N-deacetylase 1; EC=3.-.-.-; Includes: RecName: Full=Heparan sulfate N-sulfotransferase 1; EC=2.8.2.-;
FUNCTION: Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L- selectin ligands, thereby playing a role in inflammatory response.
CATALYTIC ACTIVITY: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate + [heparan sulfate]-N-sulfoglucosamine.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=13.3 uM for K5 polysaccharide; KM=0.35 uM for N-acetylated HS-II;
PATHWAY: Glycan metabolism; heparan sulfate biosynthesis.
PATHWAY: Glycan metabolism; heparin biosynthesis.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Widely expressed. Expression is most abundant in heart, liver and pancreas.
MISCELLANEOUS: The presence of 4 different heparan sulfate N- deacetylase/N-sulfotransferase enzymes in mammals, as well as differences in their enzyme activity suggest that some initiate heparan sulfate modification/sulfation reactions, whereas other later on fill in or extend already modified heparan sulfate sequences.
SIMILARITY: Belongs to the sulfotransferase 1 family. NDST subfamily.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  MalaCards Disease Associations
  MalaCards Gene Search: NDST1
Diseases sorted by gene-association score: mental retardation, autosomal recessive 46* (1330), autosomal recessive non-syndromic intellectual disability* (71), chikungunya (15), treacher collins syndrome 1 (12)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.71 RPKM in Cells - Cultured fibroblasts
Total median expression: 728.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -239.30483-0.495 Picture PostScript Text
3' UTR -1987.704879-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021930 - Heparan_SO4_deacetylase
IPR000863 - Sulfotransferase_dom

Pfam Domains:
PF12062 - heparan sulfate-N-deacetylase
PF00685 - Sulfotransferase domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1NST - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P52848
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008146 sulfotransferase activity
GO:0015016 [heparan sulfate]-glucosamine N-sulfotransferase activity
GO:0016740 transferase activity
GO:0016787 hydrolase activity
GO:0019213 deacetylase activity
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity
GO:0050119 N-acetylglucosamine deacetylase activity

Biological Process:
GO:0000271 polysaccharide biosynthetic process
GO:0003279 cardiac septum development
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006477 protein sulfation
GO:0006954 inflammatory response
GO:0007507 heart development
GO:0007585 respiratory gaseous exchange
GO:0008152 metabolic process
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009887 animal organ morphogenesis
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
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

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF211059 - JP 2014500723-A/18562: Polycomb-Associated Non-Coding RNAs.
MA446636 - JP 2018138019-A/18562: Polycomb-Associated Non-Coding RNAs.
AB209107 - Homo sapiens mRNA for N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 variant protein.
AK293746 - Homo sapiens cDNA FLJ59302 complete cds, highly similar to Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (EC 2.8.2.8).
AK292448 - Homo sapiens cDNA FLJ76493 complete cds, highly similar to Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.
JD530165 - Sequence 511189 from Patent EP1572962.
U36600 - Homo sapiens heparan N-deacetylase/N-sulfotransferase-1 mRNA, complete cds.
LF343607 - JP 2014500723-A/151110: Polycomb-Associated Non-Coding RNAs.
MA579184 - JP 2018138019-A/151110: Polycomb-Associated Non-Coding RNAs.
JD390114 - Sequence 371138 from Patent EP1572962.
JD136449 - Sequence 117473 from Patent EP1572962.
JD195937 - Sequence 176961 from Patent EP1572962.
JD270116 - Sequence 251140 from Patent EP1572962.
U17970 - Human heparan sulfate N-deacetylase/N-sulfotransferase mRNA, complete cds.
BC012888 - Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1, mRNA (cDNA clone MGC:9410 IMAGE:3882074), complete cds.
JD073863 - Sequence 54887 from Patent EP1572962.
U18918 - Human heparan sulfate-N-deacetylase/N-sulfotransferase mRNA, clone HSST, complete cds.
DQ596626 - Homo sapiens piRNA piR-34692, complete sequence.
JD496555 - Sequence 477579 from Patent EP1572962.
JD405816 - Sequence 386840 from Patent EP1572962.
JD209946 - Sequence 190970 from Patent EP1572962.
JD132224 - Sequence 113248 from Patent EP1572962.
JD225157 - Sequence 206181 from Patent EP1572962.
JD497188 - Sequence 478212 from Patent EP1572962.
JD188886 - Sequence 169910 from Patent EP1572962.
KJ904484 - Synthetic construct Homo sapiens clone ccsbBroadEn_13878 NDST1 gene, encodes complete protein.
AB590478 - Synthetic construct DNA, clone: pFN21AE2163, Homo sapiens NDST1 gene for N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1, without stop codon, in Flexi system.
LF343603 - JP 2014500723-A/151106: Polycomb-Associated Non-Coding RNAs.
MA579180 - JP 2018138019-A/151106: Polycomb-Associated Non-Coding RNAs.
LF343601 - JP 2014500723-A/151104: Polycomb-Associated Non-Coding RNAs.
MA579178 - JP 2018138019-A/151104: Polycomb-Associated Non-Coding RNAs.
LF343600 - JP 2014500723-A/151103: Polycomb-Associated Non-Coding RNAs.
MA579177 - JP 2018138019-A/151103: Polycomb-Associated Non-Coding RNAs.
LF343598 - JP 2014500723-A/151101: Polycomb-Associated Non-Coding RNAs.
MA579175 - JP 2018138019-A/151101: Polycomb-Associated Non-Coding RNAs.
LF343597 - JP 2014500723-A/151100: Polycomb-Associated Non-Coding RNAs.
MA579174 - JP 2018138019-A/151100: Polycomb-Associated Non-Coding RNAs.
LF343596 - JP 2014500723-A/151099: Polycomb-Associated Non-Coding RNAs.
MA579173 - JP 2018138019-A/151099: Polycomb-Associated Non-Coding RNAs.
LF343595 - JP 2014500723-A/151098: Polycomb-Associated Non-Coding RNAs.
MA579172 - JP 2018138019-A/151098: Polycomb-Associated Non-Coding RNAs.
LF343594 - JP 2014500723-A/151097: Polycomb-Associated Non-Coding RNAs.
MA579171 - JP 2018138019-A/151097: Polycomb-Associated Non-Coding RNAs.
LF343593 - JP 2014500723-A/151096: Polycomb-Associated Non-Coding RNAs.
MA579170 - JP 2018138019-A/151096: Polycomb-Associated Non-Coding RNAs.
JD442436 - Sequence 423460 from Patent EP1572962.
JD209125 - Sequence 190149 from Patent EP1572962.
U18932 - Human heparan sulfate-N-deacetylase/N-sulfotransferase mRNA, clone HSST3', 3'UTR.
JD483982 - Sequence 465006 from Patent EP1572962.
JD211155 - Sequence 192179 from Patent EP1572962.
JD140962 - Sequence 121986 from Patent EP1572962.
JD120020 - Sequence 101044 from Patent EP1572962.
LF343592 - JP 2014500723-A/151095: Polycomb-Associated Non-Coding RNAs.
MA579169 - JP 2018138019-A/151095: Polycomb-Associated Non-Coding RNAs.
LF343591 - JP 2014500723-A/151094: Polycomb-Associated Non-Coding RNAs.
MA579168 - JP 2018138019-A/151094: Polycomb-Associated Non-Coding RNAs.
JD157023 - Sequence 138047 from Patent EP1572962.
JD108129 - Sequence 89153 from Patent EP1572962.
JD204657 - Sequence 185681 from Patent EP1572962.
JD053318 - Sequence 34342 from Patent EP1572962.
JD107831 - Sequence 88855 from Patent EP1572962.
JD180496 - Sequence 161520 from Patent EP1572962.
JD492759 - Sequence 473783 from Patent EP1572962.
JD174156 - Sequence 155180 from Patent EP1572962.
JD417193 - Sequence 398217 from Patent EP1572962.
LF343590 - JP 2014500723-A/151093: Polycomb-Associated Non-Coding RNAs.
MA579167 - JP 2018138019-A/151093: Polycomb-Associated Non-Coding RNAs.
LF343589 - JP 2014500723-A/151092: Polycomb-Associated Non-Coding RNAs.
MA579166 - JP 2018138019-A/151092: Polycomb-Associated Non-Coding RNAs.
LF343588 - JP 2014500723-A/151091: Polycomb-Associated Non-Coding RNAs.
MA579165 - JP 2018138019-A/151091: Polycomb-Associated Non-Coding RNAs.
JD310869 - Sequence 291893 from Patent EP1572962.
BC015828 - Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1, mRNA (cDNA clone IMAGE:3834745), partial cds.
JD277447 - Sequence 258471 from Patent EP1572962.
DQ586296 - Homo sapiens piRNA piR-53408, complete sequence.
LF343587 - JP 2014500723-A/151090: Polycomb-Associated Non-Coding RNAs.
MA579164 - JP 2018138019-A/151090: Polycomb-Associated Non-Coding RNAs.
LF343586 - JP 2014500723-A/151089: Polycomb-Associated Non-Coding RNAs.
MA579163 - JP 2018138019-A/151089: Polycomb-Associated Non-Coding RNAs.
JD493935 - Sequence 474959 from Patent EP1572962.
LF343585 - JP 2014500723-A/151088: Polycomb-Associated Non-Coding RNAs.
MA579162 - JP 2018138019-A/151088: Polycomb-Associated Non-Coding RNAs.
LF343584 - JP 2014500723-A/151087: Polycomb-Associated Non-Coding RNAs.
MA579161 - JP 2018138019-A/151087: Polycomb-Associated Non-Coding RNAs.
LF343583 - JP 2014500723-A/151086: Polycomb-Associated Non-Coding RNAs.
MA579160 - JP 2018138019-A/151086: Polycomb-Associated Non-Coding RNAs.
LF343582 - JP 2014500723-A/151085: Polycomb-Associated Non-Coding RNAs.
MA579159 - JP 2018138019-A/151085: Polycomb-Associated Non-Coding RNAs.
LF343581 - JP 2014500723-A/151084: Polycomb-Associated Non-Coding RNAs.
MA579158 - JP 2018138019-A/151084: Polycomb-Associated Non-Coding RNAs.
JD019659 - Sequence 683 from Patent EP1572962.
JD476488 - Sequence 457512 from Patent EP1572962.
JD031258 - Sequence 12282 from Patent EP1572962.
JD020842 - Sequence 1866 from Patent EP1572962.
JD026983 - Sequence 8007 from Patent EP1572962.
JD030061 - Sequence 11085 from Patent EP1572962.
JD029373 - Sequence 10397 from Patent EP1572962.
JD130080 - Sequence 111104 from Patent EP1572962.
LF343580 - JP 2014500723-A/151083: Polycomb-Associated Non-Coding RNAs.
MA579157 - JP 2018138019-A/151083: Polycomb-Associated Non-Coding RNAs.
LF343579 - JP 2014500723-A/151082: Polycomb-Associated Non-Coding RNAs.
MA579156 - JP 2018138019-A/151082: Polycomb-Associated Non-Coding RNAs.
JD178156 - Sequence 159180 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00534 - Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6558 - heparan sulfate biosynthesis (late stages)
PWY-6564 - heparan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P52848 (Reactome details) participates in the following event(s):

R-HSA-2022887 NDST1-4 N-deacetylates GlcNAc residues in heparan
R-HSA-2022860 NDST1-4 can sulfate a glucosamine residue in heparan to form heparan sulfate (HS)
R-HSA-2022928 HS-GAG biosynthesis
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000261797.1, ENST00000261797.2, ENST00000261797.3, ENST00000261797.4, ENST00000261797.5, ENST00000261797.6, HSST, HSST1, NDST1_HUMAN, NM_001543, P52848, Q96E57, uc003lsk.1, uc003lsk.2, uc003lsk.3, uc003lsk.4, uc003lsk.5
UCSC ID: ENST00000261797.7
RefSeq Accession: NM_001543
Protein: P52848 (aka NDST1_HUMAN)
CCDS: CCDS34277.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.