NDST1

Protein identityUniProt · HPA

UniProt accession

P52848

Gene

NDST1

Ensembl

ENSG00000070614

Chromosome

5

Canonical length

882 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

882 residues, UniProt reviewed canonical sequence.

>P52848|NDST1
     1  MPALACLRRL CRHVSPQAVL FLLFIFCLFS VFISAYYLYG WKRGLEPSAD APEPDCGDPP
    61  PVAPSRLLPL KPVQAATPSR TDPLVLVFVE SLYSQLGQEV VAILESSRFK YRTEIAPGKG
   121  DMPTLTDKGR GRFALIIYEN ILKYVNLDAW NRELLDKYCV AYGVGIIGFF KANENSLLSA
   181  QLKGFPLFLH SNLGLKDCSI NPKSPLLYVT RPSEVEKGVL PGEDWTVFQS NHSTYEPVLL
   241  AKTRSSESIP HLGADAGLHA ALHATVVQDL GLHDGIQRVL FGNNLNFWLH KLVFVDAVAF
   301  LTGKRLSLPL DRYILVDIDD IFVGKEGTRM KVEDVKALFD TQNELRAHIP NFTFNLGYSG
   361  KFFHTGTNAE DAGDDLLLSY VKEFWWFPHM WSHMQPHLFH NQSVLAEQMA LNKKFAVEHG
   421  IPTDMGYAVA PHHSGVYPVH VQLYEAWKQV WSIRVTSTEE YPHLKPARYR RGFIHNGIMV
   481  LPRQTCGLFT HTIFYNEYPG GSSELDKIIN GGELFLTVLL NPISIFMTHL SNYGNDRLGL
   541  YTFKHLVRFL HSWTNLRLQT LPPVQLAQKY FQIFSEEKDP LWQDPCEDKR HKDIWSKEKT
   601  CDRFPKLLII GPQKTGTTAL YLFLGMHPDL SSNYPSSETF EEIQFFNGHN YHKGIDWYME
   661  FFPIPSNTTS DFYFEKSANY FDSEVAPRRA AALLPKAKVL TILINPADRA YSWYQHQRAH
   721  DDPVALKYTF HEVITAGSDA SSKLRALQNR CLVPGWYATH IERWLSAYHA NQILVLDGKL
   781  LRTEPAKVMD MVQKFLGVTN TIDYHKTLAF DPKKGFWCQL LEGGKTKCLG KSKGRKYPEM
   841  DLDSRAFLKD YYRDHNIELS KLLYKMGQTL PTWLREDLQN TR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDST1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDST1.

Disease | AllUniProt

Conditions NDST1 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 46 (MRT46) MIM:616116

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 306 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 46
• Global developmental delay
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.19

gnomAD pLI

1

gnomAD missense Z

2.92

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aorta development
• cardiac septum development
• cell population proliferation
• coronary vasculature development
• embryonic neurocranium morphogenesis
• embryonic viscerocranium morphogenesis
• fibroblast growth factor receptor signaling pathway
• forebrain development
• glycosaminoglycan metabolic process
• heparan sulfate proteoglycan biosynthetic process
• heparin proteoglycan biosynthetic process
• inflammatory response
• midbrain development
• polysaccharide biosynthetic process
• positive regulation of MAPK cascade
• positive regulation of smoothened signaling pathway
• respiratory gaseous exchange by respiratory system

Molecular functions

• deacetylase activity
• heparan sulfate N-deacetylase activity
• heparan sulfate N-sulfotransferase activity
• N-acetylglucosamine deacetylase activity

Cellular components

• Golgi apparatus
• Golgi membrane
• trans-Golgi network membrane

Protein domainsUniProt · Pfam · InterPro

• Sulfotransferase domain
• Heparan sulphate-N-deacetylase, deacetylase domain
• P-loop containing nucleoside triphosphate hydrolase
• Heparan sulfate sulfotransferase
• Heparan sulfate-N-deacetylase, N-terminal domain
• Sulfotransferase domain
• Heparan sulfate-N-deacetylase, deacetylase domain
• Heparan sulfate-N-deacetylase, N-terminal domain

KeywordsUniProt

• Disulfide bond
• Glycoprotein
• Golgi apparatus
• Hydrolase
• Inflammatory response
• Intellectual disability
• Membrane
• Multifunctional enzyme
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of NDST1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EXT2
• EXT1