mutLBSgeneDB |
Gene summary for ATXN1 |
Gene summary |
Basic gene Info. | Gene symbol | ATXN1 |
Gene name | ataxin 1 | |
Synonyms | ATX1|D6S504E|SCA1 | |
Cytomap | UCSC genome browser: 6p23 | |
Type of gene | protein-coding | |
RefGenes | NM_000332.3, NM_001128164.1, | |
Description | alternative ataxin1ataxin-1spinocerebellar ataxia type 1 protein | |
Modification date | 20141219 | |
dbXrefs | MIM : 601556 | |
HGNC : HGNC | ||
Ensembl : ENSG00000124788 | ||
HPRD : 03333 | ||
Vega : OTTHUMG00000014303 | ||
Protein | UniProt: P54253 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ATXN1 | |
BioGPS: 6310 | ||
Pathway | NCI Pathway Interaction Database: ATXN1 | |
KEGG: ATXN1 | ||
REACTOME: ATXN1 | ||
Pathway Commons: ATXN1 | ||
Context | iHOP: ATXN1 | |
ligand binding site mutation search in PubMed: ATXN1 | ||
UCL Cancer Institute: ATXN1 | ||
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 | GO:0045892 | negative regulation of transcription, DNA-templated | 15016912 | GO:0051168 | nuclear export | 15615787 |
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Ligand binding site mutations for ATXN1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | S186 | M184V | COAD | 1 | Q639 | Q639R | LUAD | 1 | V633 | E635G | SKCM | 1 | W657 | S659P | STAD | 1 | L12 | P13T | 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 ATXN1 |
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 | S186 | M184V | 0.004980225 | L12 | P13T | -1.1618685 | V633 | E635G | -0.8362226 | Q639 | Q639R | -0.83407719 | W657 | S659P | -0.54559116 |
(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 ATXN1 from PDB |
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Differential gene expression and gene-gene network for ATXN1 |
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 ATXN1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0752120 | SPINOCEREBELLAR ATAXIA 1 | 75 | Biomarker, GeneticVariation |
umls:C0087012 | Spinocerebellar Ataxias | 53 | 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 ATXN1 |
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. |
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 ATXN1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of ATXN1 |
Multiple alignments for P54253 in multiple species |
LBS | AA sequence | # species | Species | A583 | SIIQLANGELK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A602 | DFIQSAEISND | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A638 | VGEHRAQVSVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D611 | NDLKIDSSTVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F574 | TLPPYFMKGSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F598 | LKTEDFIQSAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F631 | VAVIQFAVGEH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F650 | LVEYPFFVFGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F651 | VEYPFFVFGQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I579 | FMKGSIIQLAN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I580 | MKGSIIQLANG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I683 | VGDVCISLTLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L12 | RSNECLPPKKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L582 | GSIIQLANGEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L587 | LANGELKKVED | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L593 | KKVEDLKTEDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L608 | EISNDLKIDSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L685 | DVCISLTLKNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P572 | SPTLPPYFMKG | 2 | Mus musculus, Rattus norvegicus | P572 | PPTLPPYFMKG | 1 | Homo sapiens | P649 | VLVEYPFFVFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q581 | KGSIIQLANGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q639 | GEHRAQVSVEV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S186 | LANMGSLSQAP | 2 | Mus musculus, Rattus norvegicus | S186 | LANMGSLSQTP | 1 | Homo sapiens | S601 | EDFIQSAEISN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S613 | LKIDSSTVERI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S684 | GDVCISLTLKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T686 | VCISLTLKNLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V590 | GELKKVEDLKT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V633 | VIQFAVGEHRA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V640 | EHRAQVSVEVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V642 | RAQVSVEVLVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W657 | VFGQGWSSCCP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y573 | PTLPPYFMKGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y648 | EVLVEYPFFVF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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