mutLBSgeneDB |
Gene summary for USF1 |
Gene summary |
Basic gene Info. | Gene symbol | USF1 |
Gene name | upstream transcription factor 1 | |
Synonyms | FCHL|FCHL1|HYPLIP1|MLTF|MLTFI|UEF|bHLHb11 | |
Cytomap | UCSC genome browser: 1q22-q23 | |
Type of gene | protein-coding | |
RefGenes | NM_001276373.1, NM_007122.4,NM_207005.2, | |
Description | class B basic helix-loop-helix protein 11major late transcription factor 1upstream stimulatory factor 1 | |
Modification date | 20141222 | |
dbXrefs | MIM : 191523 | |
HGNC : HGNC | ||
Ensembl : ENSG00000158773 | ||
HPRD : 01880 | ||
Vega : OTTHUMG00000031472 | ||
Protein | UniProt: P22415 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_USF1 | |
BioGPS: 7391 | ||
Pathway | NCI Pathway Interaction Database: USF1 | |
KEGG: USF1 | ||
REACTOME: USF1 | ||
Pathway Commons: USF1 | ||
Context | iHOP: USF1 | |
ligand binding site mutation search in PubMed: USF1 | ||
UCL Cancer Institute: USF1 | ||
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:0006366 | transcription from RNA polymerase II promoter | 2249772 | GO:0019086 | late viral transcription | 2249772 | GO:0032869 | cellular response to insulin stimulus | 19303849 |
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Ligand binding site mutations for USF1 |
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 | R210 | R210H | 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 USF1 |
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 | R210 | R210H | -1.2108525 |
(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 USF1 from PDB |
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Differential gene expression and gene-gene network for USF1 |
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 USF1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0020474 | Hyperlipidemia, Familial Combined | 29 | AlteredExpression, Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for USF1 |
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 USF1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1an4 | A | R210 | NUC | Nucleic Acids | 1an4 | B | R210 |
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Conservation information for LBS of USF1 |
Multiple alignments for P22415 in multiple species |
LBS | AA sequence | # species | Species | D213 | ERRRRDKINNW | 3 | Homo sapiens, Mus musculus, Bos taurus | E208 | QHNEVERRRRD | 3 | Homo sapiens, Mus musculus, Bos taurus | G241 | SGQSKGGILSK | 3 | Homo sapiens, Mus musculus, Bos taurus | K240 | KSGQSKGGILS | 3 | Homo sapiens, Mus musculus, Bos taurus | N205 | RRAQHNEVERR | 3 | Homo sapiens, Mus musculus, Bos taurus | N216 | RRDKINNWIVQ | 3 | Homo sapiens, Mus musculus, Bos taurus | Q203 | EKRRAQHNEVE | 3 | Homo sapiens, Mus musculus, Bos taurus | Q238 | STKSGQSKGGI | 3 | Homo sapiens, Mus musculus, Bos taurus | R200 | TRDEKRRAQHN | 3 | Homo sapiens, Mus musculus, Bos taurus | R209 | HNEVERRRRDK | 3 | Homo sapiens, Mus musculus, Bos taurus | R210 | NEVERRRRDKI | 3 | Homo sapiens, Mus musculus, Bos taurus | R211 | EVERRRRDKIN | 3 | Homo sapiens, Mus musculus, Bos taurus | R212 | VERRRRDKINN | 3 | Homo sapiens, Mus musculus, Bos taurus | S233 | DCSMESTKSGQ | 3 | Homo sapiens, Mus musculus, Bos taurus | S239 | TKSGQSKGGIL | 3 | Homo sapiens, Mus musculus, Bos taurus |
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