mutLBSgeneDB |
Gene summary for SMS |
Gene summary |
Basic gene Info. | Gene symbol | SMS |
Gene name | spermine synthase | |
Synonyms | MRSR|SPMSY|SRS|SpS | |
Cytomap | UCSC genome browser: Xp22.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001258423.1, NM_004595.4, | |
Description | spermidine aminopropyltransferase | |
Modification date | 20141219 | |
dbXrefs | MIM : 300105 | |
HGNC : HGNC | ||
Ensembl : ENSG00000102172 | ||
HPRD : 02115 | ||
Vega : OTTHUMG00000021239 | ||
Protein | UniProt: P52788 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SMS | |
BioGPS: 6611 | ||
Pathway | NCI Pathway Interaction Database: SMS | |
KEGG: SMS | ||
REACTOME: SMS | ||
Pathway Commons: SMS | ||
Context | iHOP: SMS | |
ligand binding site mutation search in PubMed: SMS | ||
UCL Cancer Institute: SMS | ||
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 SMS |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D167 | D167G | COAD | 1 | T126 | D128E | HNSC | 1 | D276 | D276Y | KIRC | 1 | D167 | G166V | LUSC | 1 | P125 | P125S | SKCM | 1 | W355 | V356A | STAD | 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 SMS |
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 | W355 | V356A | -1.3222931 | D167 | D167G | -1.1644355 | P125 | P125S | -1.005705 | D276 | D276Y | -0.66881799 | D167 | G166V | -0.63299207 | T126 | D128E | -0.1676308 |
(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 SMS from PDB |
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Differential gene expression and gene-gene network for SMS |
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 SMS |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0796160 | Snyder Robinson syndrome | 8 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for SMS |
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 |
Approved|nutraceutical | DB00127 | Spermine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of SMS go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SPM | SPERMINE | 3c6m | B | D167 D276 W355 | SPM | SPERMINE | 3c6m | C | D167 D276 W355 | MTA | 5'-DEOXY-5'-METHYLTHIOADENOSINE | 3c6m | A | D276 | MTA | 5'-DEOXY-5'-METHYLTHIOADENOSINE | 3c6m | B | D276 | MTA | 5'-DEOXY-5'-METHYLTHIOADENOSINE | 3c6m | C | D276 | MTA | 5'-DEOXY-5'-METHYLTHIOADENOSINE | 3c6m | D | D276 | SPM | SPERMINE | 3c6m | A | P125 D167 D276 W355 | SPM | SPERMINE | 3c6m | D | T126 D167 D276 W355 |
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Conservation information for LBS of SMS |
Multiple alignments for P52788 in multiple species |
LBS | AA sequence | # species | Species | C256 | VLIEDCIPVLK | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | D167 | LILSGDVNLAE | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | D201 | ILGGGDGGILC | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | D222 | TMVEIDQMVID | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | D255 | QVLIEDCIPVL | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | D276 | DYVINDLTAVP | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | E220 | MVTMVEIDQMV | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | E353 | VPSYLELWVFY | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | G198 | DVLILGGGDGG | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | G199 | VLILGGGDGGI | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | G200 | LILGGGDGGIL | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | I221 | VTMVEIDQMVI | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | I282 | LTAVPISTSPE | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | L162 | QFGNILILSGD | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | L164 | GNILILSGDVN | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | L277 | YVINDLTAVPI | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | N169 | LSGDVNLAESD | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | P125 | IDRYWPTADGR | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | Q148 | EDSPYQNIKIL | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | Q315 | GKYFTQGNCVN | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | T126 | DRYWPTADGRL | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | T278 | VINDLTAVPIS | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | V168 | ILSGDVNLAES | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | V219 | KMVTMVEIDQM | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | V225 | EIDQMVIDGCK | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | W124 | AIDRYWPTADG | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | W355 | SYLELWVFYTV | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | Y134 | GRLVEYDIDEV | 3 | Homo sapiens, Mus musculus, Mus musculus | Y134 | GRLVEYDIDKV | 1 | Bos taurus | Y177 | ESDLAYTRAIM | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus | Y351 | VCVPSYLELWV | 4 | Homo sapiens, Mus musculus, Mus musculus, Bos taurus |
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