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mutLBSgeneDB |
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| 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 |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| 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 |
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| 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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