mutLBSgeneDB |
Gene summary for NDST1 |
Gene summary |
Basic gene Info. | Gene symbol | NDST1 |
Gene name | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 | |
Synonyms | HSST|MRT46|NST1 | |
Cytomap | UCSC genome browser: 5q33.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001301063.1, NM_001543.4, | |
Description | HSNST 1N-HSST 1N-heparan sulfate sulfotransferase 1NDST-1[Heparan sulfate]-glucosamine N-sulfotransferase 1bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1glucosaminyl N-deacetylase/N-sulfotransferase 1heparan sulfate-N-deacetylase/N | |
Modification date | 20141222 | |
dbXrefs | MIM : 600853 | |
HGNC : HGNC | ||
Ensembl : ENSG00000070614 | ||
HPRD : 02912 | ||
Vega : OTTHUMG00000163572 | ||
Protein | UniProt: P52848 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_NDST1 | |
BioGPS: 3340 | ||
Pathway | NCI Pathway Interaction Database: NDST1 | |
KEGG: NDST1 | ||
REACTOME: NDST1 | ||
Pathway Commons: NDST1 | ||
Context | iHOP: NDST1 | |
ligand binding site mutation search in PubMed: NDST1 | ||
UCL Cancer Institute: NDST1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for NDST1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | F816 | F816C | COAD | 1 | Y837 | E839K | SKCM | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for NDST1 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | F816 | F816C | -1.4370505 | Y837 | E839K | -0.99453175 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for NDST1 from PDB |
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Differential gene expression and gene-gene network for NDST1 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for NDST1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
umls:C0015393 | Eye Abnormalities | 1 | Biomarker |
umls:C3714756 | Intellectual Disability | 1 | Biomarker |
umls:C1955869 | Malformations of Cortical Development | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for NDST1 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB01812 | Adenosine-3'-5'-Diphosphate | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of NDST1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | A3P | ADENOSINE 3',5'-BISPHOSPHATE | 1nst | A | F816 Y837 |
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Conservation information for LBS of NDST1 |
Multiple alignments for P52848 in multiple species |
LBS | AA sequence | # species | Species | A619 | KTGTTALYLFL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | F816 | DPKKGFWCQLL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | G616 | GPQKTGTTALY | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | G834 | LGKSKGRKYPE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G834 | LGKSKGRKYPD | 1 | Xenopus tropicalis | K614 | IIGPQKTGTTA | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | K833 | CLGKSKGRKYP | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | L829 | GKTKCLGKSKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L829 | GRTKCLGKSKG | 1 | Xenopus tropicalis | R835 | GKSKGRKYPEM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R835 | GKSKGRKYPDM | 1 | Xenopus tropicalis | S712 | ADRAYSWYQHQ | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T615 | IGPQKTGTTAL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T617 | PQKTGTTALYL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T618 | QKTGTTALYLF | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | W817 | PKKGFWCQLLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W817 | PKKGFWCQLLD | 1 | Xenopus tropicalis | Y837 | SKGRKYPEMDL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y837 | SKGRKYPDMDS | 1 | Xenopus tropicalis |
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