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mutLBSgeneDB |
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| Gene summary for SAT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SAT1 |
| Gene name | spermidine/spermine N1-acetyltransferase 1 | |
| Synonyms | DC21|KFSD|KFSDX|SAT|SSAT|SSAT-1 | |
| Cytomap | UCSC genome browser: Xp22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002970.3, NR_027783.2, | |
| Description | diamine N-acetyltransferase 1diamine acetyltransferase 1polyamine N-acetyltransferase 1putrescine acetyltransferasespermidine/spermine N1-acetyltransferase alpha | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 313020 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130066 | ||
| HPRD : 02431 | ||
| Vega : OTTHUMG00000021256 | ||
| Protein | UniProt: P21673 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SAT1 | |
| BioGPS: 6303 | ||
| Pathway | NCI Pathway Interaction Database: SAT1 | |
| KEGG: SAT1 | ||
| REACTOME: SAT1 | ||
| Pathway Commons: SAT1 | ||
| Context | iHOP: SAT1 | |
| ligand binding site mutation search in PubMed: SAT1 | ||
| UCL Cancer Institute: SAT1 | ||
| 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 SAT1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L148 | L148M | BRCA | 1 | C120 | R121H | COAD | 1 | K158 | F157L | HNSC | 1 | W154 | R155K | HNSC | 1 | R119 | R119K | KIRC | 1 | V96 | V96M | LUAD | 1 | R143 | A145V | UCEC | 1 | V96 | V96M | UCEC | 1 | W84,D82 | P83L | UCEC | 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 SAT1 |
| 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 | V96 | V96M | -1.0879401 | C120 | R121H | -0.99730631 | L148 | L148M | -0.92373169 | K158 | F157L | -0.88687884 | D82 | P83L | -0.80925984 | W84 | P83L | -0.80925984 | R119 | R119K | -0.74011137 | W154 | R155K | -0.73857467 | R143 | A145V | -0.59388449 |
| (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 SAT1 from PDB |
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| Differential gene expression and gene-gene network for SAT1 |
| 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 SAT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028754 | Obesity | 8 | Biomarker, GeneticVariation |
| umls:C0343057 | Keratosis Follicularis Spinulosa Decalvans, X-Linked | 3 | Biomarker |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SAT1 |
| 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 |
| Experimental | DB04633 | N-ethyl-N-[3-(propylamino)propyl]propane-1,3-diamine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SAT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | B33 | N-ETHYL-N-[3-(PROPYLAMINO)PROPYL]PROPANE-1,3-DIAMINE | 2b4b | B | D82 W84 L148 W154 | NHQ | N1-ACETYLSPERMINE-S-COA | 2jev | A | D82 W84 W154 | NHQ | N1-ACETYLSPERMINE-S-COA | 2jev | B | D82 W84 W154 | B33 | N-ETHYL-N-[3-(PROPYLAMINO)PROPYL]PROPANE-1,3-DIAMINE | 2b4b | A | K158 | CA | CALCIUM(2+) | 2fxf | B | R119 C120 | COA | COENZYME A | 2b4b | A | V96 | NHQ | N1-ACETYLSPERMINE-S-COA | 2jev | A | V96 | NHQ | N1-ACETYLSPERMINE-S-COA | 2jev | B | V96 | ACO | ACETYL COENZYME *A | 2b3v | A | V96 R143 | COA | COENZYME A | 2b4b | B | V96 R143 | COA | COENZYME A | 2b4d | A | V96 R143 | COA | COENZYME A | 2b4d | B | V96 R143 | COA | COENZYME A | 2b58 | A | V96 R143 | ACO | ACETYL COENZYME *A | 2fxf | A | V96 R143 | ACO | ACETYL COENZYME *A | 2fxf | B | V96 R143 |
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| Conservation information for LBS of SAT1 |
| Multiple alignments for P21673 in multiple species |
| LBS | AA sequence | # species | Species | A12 | RPATAADCSDI | 2 | Homo sapiens, Bos taurus | A12 | RAARPEDCSDL | 1 | Gallus gallus | A12 | RPATASDCSDI | 1 | Mus musculus | C120 | QVAMKCRCSSM | 2 | Mus musculus, Bos taurus | C120 | QVAMRCRCSSM | 1 | Homo sapiens | C120 | QVAVKCRCSSM | 1 | Gallus gallus | D82 | YYFTYDPWIGK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D93 | LLYLEDFFVMS | 3 | Homo sapiens, Mus musculus, Bos taurus | D93 | LLYLEDFYVMA | 1 | Gallus gallus | E152 | DLSSEEGWRLF | 3 | Homo sapiens, Mus musculus, Bos taurus | E152 | DLSTEEGWRLF | 1 | Gallus gallus | E28 | ELAKYEYMEEQ | 2 | Homo sapiens, Bos taurus | E28 | ELAKYEDMEDQ | 1 | Gallus gallus | E28 | ELAKYEYMEDQ | 1 | Mus musculus | E32 | YEYMEEQVILT | 1 | Homo sapiens | E32 | YEDMEDQVVLT | 1 | Gallus gallus | E32 | YEYMEDQVILT | 1 | Mus musculus | E32 | YEYMEEQVMLT | 1 | Bos taurus | E92 | KLLYLEDFFVM | 3 | Homo sapiens, Mus musculus, Bos taurus | E92 | KLLYLEDFYVM | 1 | Gallus gallus | F103 | SDYRGFGIGSE | 3 | Homo sapiens, Mus musculus, Bos taurus | F103 | AEYRGLGIGSE | 1 | Gallus gallus | F127 | CSSMHFLVAEW | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | F139 | EPSINFYKRRG | 3 | Homo sapiens, Mus musculus, Bos taurus | F139 | EPSIRFYKRRG | 1 | Gallus gallus | F94 | LYLEDFFVMSD | 3 | Homo sapiens, Mus musculus, Bos taurus | F94 | LYLEDFYVMAE | 1 | Gallus gallus | F95 | YLEDFFVMSDY | 3 | Homo sapiens, Mus musculus, Bos taurus | F95 | YLEDFYVMAEY | 1 | Gallus gallus | G102 | MSDYRGFGIGS | 3 | Homo sapiens, Mus musculus, Bos taurus | G102 | MAEYRGLGIGS | 1 | Gallus gallus | G104 | DYRGFGIGSEI | 3 | Homo sapiens, Mus musculus, Bos taurus | G104 | EYRGLGIGSEI | 1 | Gallus gallus | G106 | RGFGIGSEILK | 3 | Homo sapiens, Mus musculus, Bos taurus | G106 | RGLGIGSEILK | 1 | Gallus gallus | I105 | YRGFGIGSEIL | 3 | Homo sapiens, Mus musculus, Bos taurus | I105 | YRGLGIGSEIL | 1 | Gallus gallus | I85 | TYDPWIGKLLY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | K158 | GWRLFKIDKEY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | L128 | SSMHFLVAEWN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | L148 | RGASDLSSEEG | 3 | Homo sapiens, Mus musculus, Bos taurus | L148 | RGASDLSTEEG | 1 | Gallus gallus | L24 | RLIKELAKYEY | 3 | Homo sapiens, Mus musculus, Bos taurus | L24 | RLIKELAKYED | 1 | Gallus gallus | L91 | GKLLYLEDFFV | 3 | Homo sapiens, Mus musculus, Bos taurus | L91 | GKLLYLEDFYV | 1 | Gallus gallus | N133 | LVAEWNEPSIN | 3 | Homo sapiens, Mus musculus, Bos taurus | N133 | LVAEWNEPSIR | 1 | Gallus gallus | P135 | AEWNEPSINFY | 3 | Homo sapiens, Mus musculus, Bos taurus | P135 | AEWNEPSIRFY | 1 | Gallus gallus | Q33 | EYMEEQVILTE | 1 | Homo sapiens | Q33 | EDMEDQVVLTE | 1 | Gallus gallus | Q33 | EYMEDQVILTE | 1 | Mus musculus | Q33 | EYMEEQVMLTE | 1 | Bos taurus | R101 | VMSDYRGFGIG | 3 | Homo sapiens, Mus musculus, Bos taurus | R101 | VMAEYRGLGIG | 1 | Gallus gallus | R119 | SQVAMKCRCSS | 2 | Mus musculus, Bos taurus | R119 | SQVAMRCRCSS | 1 | Homo sapiens | R119 | SQVAVKCRCSS | 1 | Gallus gallus | R142 | INFYKRRGASD | 3 | Homo sapiens, Mus musculus, Bos taurus | R142 | IRFYKRRGASD | 1 | Gallus gallus | R143 | NFYKRRGASDL | 3 | Homo sapiens, Mus musculus, Bos taurus | R143 | RFYKRRGASDL | 1 | Gallus gallus | S107 | GFGIGSEILKN | 2 | Homo sapiens, Mus musculus | S107 | GLGIGSEILKN | 1 | Gallus gallus | S107 | GFGIGSEILKK | 1 | Bos taurus | S136 | EWNEPSINFYK | 3 | Homo sapiens, Mus musculus, Bos taurus | S136 | EWNEPSIRFYK | 1 | Gallus gallus | S15 | TAADCSDILRL | 2 | Homo sapiens, Bos taurus | S15 | RPEDCSDLLRL | 1 | Gallus gallus | S15 | TASDCSDILRL | 1 | Mus musculus | V129 | SMHFLVAEWNE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | V96 | LEDFFVMSDYR | 3 | Homo sapiens, Mus musculus, Bos taurus | V96 | LEDFYVMAEYR | 1 | Gallus gallus | W154 | SSEEGWRLFKI | 3 | Homo sapiens, Mus musculus, Bos taurus | W154 | STEEGWRLFKI | 1 | Gallus gallus | W84 | FTYDPWIGKLL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Y140 | PSINFYKRRGA | 3 | Homo sapiens, Mus musculus, Bos taurus | Y140 | PSIRFYKRRGA | 1 | Gallus gallus | Y27 | KELAKYEYMEE | 2 | Homo sapiens, Bos taurus | Y27 | KELAKYEDMED | 1 | Gallus gallus | Y27 | KELAKYEYMED | 1 | Mus musculus |
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