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mutLBSgeneDB |
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| Gene summary for SREBF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SREBF1 |
| Gene name | sterol regulatory element binding transcription factor 1 | |
| Synonyms | SREBP-1c|SREBP1|bHLHd1 | |
| Cytomap | UCSC genome browser: 17p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001005291.2, NM_004176.4, | |
| Description | SREBP-1class D basic helix-loop-helix protein 1sterol regulatory element-binding protein 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 184756 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000072310 | ||
| HPRD : 01701 | ||
| Vega : OTTHUMG00000059313 | ||
| Protein | UniProt: P36956 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SREBF1 | |
| BioGPS: 6720 | ||
| Pathway | NCI Pathway Interaction Database: SREBF1 | |
| KEGG: SREBF1 | ||
| REACTOME: SREBF1 | ||
| Pathway Commons: SREBF1 | ||
| Context | iHOP: SREBF1 | |
| ligand binding site mutation search in PubMed: SREBF1 | ||
| UCL Cancer Institute: SREBF1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 12242332 |
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| Ligand binding site mutations for SREBF1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I331,N329 | A330T | COAD | 1 | R325 | R325L | LUSC | 1 | Q319 | R321H | 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 SREBF1 |
| 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 | N329 | A330T | -0.36806987 | I331 | A330T | -0.36806987 | Q319 | R321H | -0.18838015 | R325 | R325L | -0.12348256 |
| (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 SREBF1 from PDB |
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| Differential gene expression and gene-gene network for SREBF1 |
| 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 SREBF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0015695 | Fatty Liver | 18 | AlteredExpression, Biomarker |
| umls:C0028754 | Obesity | 16 | Biomarker, GeneticVariation |
| umls:C2239176 | Carcinoma, Hepatocellular | 8 | AlteredExpression, Biomarker |
| umls:C0400966 | Non-alcoholic Fatty Liver Disease | 5 | Biomarker |
| umls:C0011853 | Diabetes Mellitus, Experimental | 3 | Biomarker |
| umls:C0021655 | Insulin Resistance | 2 | Biomarker |
| umls:C0022661 | Kidney Failure, Chronic | 2 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SREBF1 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SREBF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1am9 | B | I331 | NUC | Nucleic Acids | 1am9 | C | I331 | NUC | Nucleic Acids | 1am9 | D | I331 | NUC | Nucleic Acids | 1am9 | A | Q319 I331 | NUC | Nucleic Acids | 1am9 | A | R325 N329 | NUC | Nucleic Acids | 1am9 | B | R325 N329 | NUC | Nucleic Acids | 1am9 | C | R325 N329 | NUC | Nucleic Acids | 1am9 | D | R325 N329 |
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| Conservation information for LBS of SREBF1 |
| Multiple alignments for P36956 in multiple species |
| LBS | AA sequence | # species | Species | E332 | AHNAIEKRYRS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H328 | EKRTAHNAIEK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I331 | TAHNAIEKRYR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K333 | HNAIEKRYRSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K359 | EAKLNKSAVLR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N329 | KRTAHNAIEKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N340 | YRSSINDKIVE | 2 | Mus musculus, Rattus norvegicus | N340 | YRSSINDKIIE | 1 | Homo sapiens | N358 | TEAKLNKSAVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q319 | ALGSAQSRGEK | 2 | Mus musculus, Rattus norvegicus | Q319 | APASAQSRGEK | 1 | Homo sapiens | R325 | SRGEKRTAHNA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R334 | NAIEKRYRSSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R336 | IEKRYRSSIND | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y335 | AIEKRYRSSIN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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