NDST1
entrez
3340
canonical
uniprot
P52848
canonical
ensembl
ENSG00000070614
resolver
ensp
ENSP00000261797
resolver
ensp
ENSP00000428604
resolver
genesymbol
NDST1
resolver
genesymbol_syn
HSST
resolver
genesymbol_syn
HSST1
resolver
hgnc
HGNC:7680
resolver
uniprot
A8K8T3
resolver
uniprot
B7Z1Q0
resolver
uniprot
E7EVJ3
resolver
uniprot
Q96E57
resolver
uniprot_entry
A8K8T3_HUMAN
resolver
uniprot_entry
NDST1_HUMAN
resolver
uniprot_sec
B7Z1Q0
resolver
uniprot_sec
E7EVJ3
resolver
uniprot_sec
Q96E57
resolver
amino_acid_sequence
MPALACLRRLCRHVSPQAVLFLLFIFCLFSVFISAYYLYGWKRGLEPSADAPEPDCGDPPPVAPSRLLPLKPVQAATPSRTDPLVLVFVESLYSQLGQEVVAILESSRFKYRTEIAPGKGDMPTLTDKGRGRFALIIYENILKYVNLDAWNRELLDKYCVAYGVGIIGFFKANENSLLSAQLKGFPLFLHSNLGLKDCSINPKSPLLYVTRPSEVEKGVLPGEDWTVFQSNHSTYEPVLLAKTRSSESIPHLGADAGLHAALHATVVQDLGLHDGIQRVLFGNNLNFWLHKLVFVDAVAFLTGKRLSLPLDRYILVDIDDIFVGKEGTRMKVEDVKALFDTQNELRAHIPNFTFNLGYSGKFFHTGTNAEDAGDDLLLSYVKEFWWFPHMWSHMQPHLFHNQSVLAEQMALNKKFAVEHGIPTDMGYAVAPHHSGVYPVHVQLYEAWKQVWSIRVTSTEEYPHLKPARYRRGFIHNGIMVLPRQTCGLFTHTIFYNEYPGGSSELDKIINGGELFLTVLLNPISIFMTHLSNYGNDRLGLYTFKHLVRFLHSWTNLRLQTLPPVQLAQKYFQIFSEEKDPLWQDPCEDKRHKDIWSKEKTCDRFPKLLIIGPQKTGTTALYLFLGMHPDLSSNYPSSETFEEIQFFNGHNYHKGIDWYMEFFPIPSNTTSDFYFEKSANYFDSEVAPRRAAALLPKAKVLTILINPADRAYSWYQHQRAHDDPVALKYTFHEVITAGSDASSKLRALQNRCLVPGWYATHIERWLSAYHANQILVLDGKLLRTEPAKVMDMVQKFLGVTNTIDYHKTLAFDPKKGFWCQLLEGGKTKCLGKSKGRKYPEMDLDSRAFLKDYYRDHNIELSKLLYKMGQTLPTWLREDLQNTR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116]: 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. {ECO:0000269|PubMed:25125150}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.2.8
uniprot
proteins
ec_number
3.5.1.-
uniprot
proteins
function
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: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). {ECO:0000250|UniProtKB:Q3UHN9, ECO:0000269|PubMed:22660413, ECO:0000269|PubMed:9230113}.; FUNCTION: [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. {ECO:0000269|PubMed:35137078}.
uniprot
proteins
mass_dalton
100868
uniprot
proteins
mutagenesis
MUTAGEN 614; /note="K->A: Loss of heparan sulfate-glucosamine N-sulfotransferase activity."; /evidence="ECO:0000269|PubMed:9744796
uniprot
proteins
pathway_participation
PATHWAY: [Isoform 1]: Glycan metabolism; heparan sulfate biosynthesis. {ECO:0000305|PubMed:9230113, ECO:0000305|PubMed:9744796}.; PATHWAY: [Isoform 1]: Glycan metabolism; heparin biosynthesis. {ECO:0000305|PubMed:9230113, ECO:0000305|PubMed:9744796}.
uniprot
proteins
protein_family
NDST subfamily
uniprot
proteins
protein_family
Sulfotransferase 1 family
uniprot
proteins
pubmed
10196134
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19880432
uniprot
proteins
pubmed
22660413
uniprot
proteins
pubmed
25125150
uniprot
proteins
pubmed
35137078
uniprot
proteins
pubmed
7601448
uniprot
proteins
pubmed
9230113
uniprot
proteins
pubmed
9744796
uniprot
proteins
sequence_length
882
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:9230113}; Single-pass type II membrane protein {ECO:0000255}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:35137078}; Single-pass type II membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 3]: Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:35137078}; Single-pass type II membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..39; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins