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mutLBSgeneDB |
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| Gene summary for ITGA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ITGA1 |
| Gene name | integrin, alpha 1 | |
| Synonyms | CD49a|VLA1 | |
| Cytomap | UCSC genome browser: 5q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_181501.1, | |
| Description | CD49 antigen-like family member AVLA-1integrin alpha-1laminin and collagen receptorvery late activation protein 1 | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 192968 | |
| HGNC : HGNC | ||
| HPRD : 01892 | ||
| Protein | UniProt: P56199 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITGA1 | |
| BioGPS: 3672 | ||
| Pathway | NCI Pathway Interaction Database: ITGA1 | |
| KEGG: ITGA1 | ||
| REACTOME: ITGA1 | ||
| Pathway Commons: ITGA1 | ||
| Context | iHOP: ITGA1 | |
| ligand binding site mutation search in PubMed: ITGA1 | ||
| UCL Cancer Institute: ITGA1 | ||
| 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:0032516 | positive regulation of phosphoprotein phosphatase activity | 15592458 |
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| Ligand binding site mutations for ITGA1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S284 | S284C | BLCA | 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 ITGA1 |
| 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 | S284 | S284C | -0.57865012 |
| (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 ITGA1 from PDB |
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| Differential gene expression and gene-gene network for ITGA1 |
| 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 ITGA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017639 | Gliosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ITGA1 |
| 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 ITGA1 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 ITGA1 |
| Multiple alignments for P56199 in multiple species |
| LBS | AA sequence | # species | Species | D281 | MVIVTDGESHD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E283 | IVTDGESHDNY | 2 | Mus musculus, Rattus norvegicus | E283 | IVTDGESHDNH | 1 | Homo sapiens | F323 | LSTEKFVEEIK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G282 | VIVTDGESHDN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H285 | TDGESHDNYRL | 2 | Mus musculus, Rattus norvegicus | H285 | TDGESHDNHRL | 1 | Homo sapiens | I183 | DGSNSIYPWES | 2 | Mus musculus, Rattus norvegicus | I183 | DGSNSIYPWDS | 1 | Homo sapiens | N181 | VLDGSNSIYPW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P185 | SNSIYPWDSVT | 1 | Homo sapiens | P185 | SNSIYPWESVT | 1 | Mus musculus | P185 | SNSIYPWESVI | 1 | Rattus norvegicus | Q247 | QRGGRQTMTAL | 1 | Homo sapiens | Q247 | RRGGLQTMTAL | 1 | Mus musculus | Q247 | RQGGLQTMTAL | 1 | Rattus norvegicus | R246 | VQRGGRQTMTA | 1 | Homo sapiens | R246 | GRRGGLQTMTA | 1 | Mus musculus | R246 | GRQGGLQTMTA | 1 | Rattus norvegicus | R315 | LGHYNRGNLST | 2 | Mus musculus, Rattus norvegicus | R315 | LGSYNRGNLST | 1 | Homo sapiens | S180 | IVLDGSNSIYP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S182 | LDGSNSIYPWE | 2 | Mus musculus, Rattus norvegicus | S182 | LDGSNSIYPWD | 1 | Homo sapiens | S284 | VTDGESHDNYR | 2 | Mus musculus, Rattus norvegicus | S284 | VTDGESHDNHR | 1 | Homo sapiens | T248 | RGGRQTMTALG | 1 | Homo sapiens | T248 | RGGLQTMTALG | 1 | Mus musculus | T248 | QGGLQTMTALG | 1 | Rattus norvegicus | Y184 | GSNSIYPWESV | 2 | Mus musculus, Rattus norvegicus | Y184 | GSNSIYPWDSV | 1 | Homo sapiens |
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