mutLBSgeneDB |
Gene summary for NT5C |
Gene summary |
Basic gene Info. | Gene symbol | NT5C |
Gene name | 5', 3'-nucleotidase, cytosolic | |
Synonyms | DNT|DNT1|HEL74|P5N2|PN-I|PN-II|UMPH2|cdN|dNT-1 | |
Cytomap | UCSC genome browser: 17q25.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001252377.1, NM_014595.2,NR_045513.1, | |
Description | 5' nucleotidase, deoxy (pyrimidine), cytosolic type C5'(3')-deoxyribonucleotidase, cytosolic typecytosolic 5',3'-pyrimidine nucleotidasedeoxy-5'-nucleotidase 1epididymis luminal protein 74uridine 5'-monophosphate phosphohydrolase 2uridine 5-prime mo | |
Modification date | 20141207 | |
dbXrefs | MIM : 191720 | |
HGNC : HGNC | ||
Ensembl : ENSG00000125458 | ||
HPRD : 11833 | ||
Vega : OTTHUMG00000179346 | ||
Protein | UniProt: Q8TCD5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_NT5C | |
BioGPS: 30833 | ||
Pathway | NCI Pathway Interaction Database: NT5C | |
KEGG: NT5C | ||
REACTOME: NT5C | ||
Pathway Commons: NT5C | ||
Context | iHOP: NT5C | |
ligand binding site mutation search in PubMed: NT5C | ||
UCL Cancer Institute: NT5C | ||
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 | GO:0009223 | pyrimidine deoxyribonucleotide catabolic process | 10681516 | GO:0016311 | dephosphorylation | 10681516 |
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Ligand binding site mutations for NT5C |
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 | R132 | R132M | COAD | 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 NT5C |
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 | R132 | R132M | -1.0272298 |
(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 NT5C from PDB |
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Differential gene expression and gene-gene network for NT5C |
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 NT5C |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0009404 | Colorectal Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for NT5C |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of NT5C go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2O2 | 1-{2-DEOXY-3,5-O-[PHENYL(PHOSPHONO)METHYLIDENE]-BETA-D- THREO-PENTOFURANOSYL}-5-[(E)-2- PHOSPHONOETHENYL]PYRIMIDINE-2,4(1H,3H)-DIONE | 4yih | A | R132 | 2O2 | 1-{2-DEOXY-3,5-O-[PHENYL(PHOSPHONO)METHYLIDENE]-BETA-D- THREO-PENTOFURANOSYL}-5-[(E)-2- PHOSPHONOETHENYL]PYRIMIDINE-2,4(1H,3H)-DIONE | 4yih | B | R132 |
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Conservation information for LBS of NT5C |
Multiple alignments for Q8TCD5 in multiple species |
LBS | AA sequence | # species | Species |
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