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mutLBSgeneDB |
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| Gene summary for ITGB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ITGB1 |
| Gene name | integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) | |
| Synonyms | CD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLAB | |
| Cytomap | UCSC genome browser: 10p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002211.3, NM_033668.2,NM_133376.2,NM_033666.2,NM_033667.2, NM_033669.2, | |
| Description | glycoprotein IIaintegrin VLA-4 beta subunitintegrin beta-1very late activation protein, beta polypeptide | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 135630 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000150093 | ||
| HPRD : 00628 | ||
| Vega : OTTHUMG00000017928 | ||
| Protein | UniProt: P05556 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITGB1 | |
| BioGPS: 3688 | ||
| Pathway | NCI Pathway Interaction Database: ITGB1 | |
| KEGG: ITGB1 | ||
| REACTOME: ITGB1 | ||
| Pathway Commons: ITGB1 | ||
| Context | iHOP: ITGB1 | |
| ligand binding site mutation search in PubMed: ITGB1 | ||
| UCL Cancer Institute: ITGB1 | ||
| 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:0007159 | leukocyte cell-cell adhesion | 1715889 | GO:0010710 | regulation of collagen catabolic process | 10455171 | GO:0090004 | positive regulation of establishment of protein localization to plasma membrane | 10455171 |
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| Ligand binding site mutations for ITGB1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D158 | D158N | HNSC | 2 | D150 | M149L | BRCA | 1 | D158 | D158N | COAD | 1 | D150 | M149V | LUSC | 1 | D150 | M149I | SKCM | 1 | N244 | S242T | 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 ITGB1 |
| 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 | D158 | D158N | -1.0308148 | N244 | S242T | -0.72835142 | D150 | M149V | -0.5632328 | D150 | M149I | -0.48244421 | D150 | M149L | -0.47192075 |
| (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 ITGB1 from PDB |
| PDB ID | PDB title | PDB structure | 3VI3 | Crystal structure of alpha5beta1 integrin headpiece (ligand-free form) |  |
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| Differential gene expression and gene-gene network for ITGB1 |
| 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 ITGB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027627 | Neoplasm Metastasis | 11 | AlteredExpression, Biomarker |
| umls:C0007097 | Carcinoma | 8 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0007137 | Carcinoma, Squamous Cell | 6 | AlteredExpression, Biomarker |
| umls:C0878544 | Cardiomyopathies | 2 | AlteredExpression, Biomarker |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 2 | Biomarker |
| umls:C0006663 | Calcinosis | 1 | Biomarker |
| umls:C0007193 | Cardiomyopathy, Dilated | 1 | Biomarker |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| umls:C0017639 | Gliosis | 1 | Biomarker |
| umls:C0018801 | Heart Failure | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ITGB1 |
| 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 |
| Approved | DB00098 | Anti-thymocyte Globulin (Rabbit) | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ITGB1 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 ITGB1 |
| Multiple alignments for P05556 in multiple species |
| LBS | AA sequence | # species | Species | A362 | VGTLSANSSNV | 2 | Homo sapiens, Bos taurus | A362 | VGTLSGNSSNV | 2 | Mus musculus, Rattus norvegicus | A362 | VGVLANDSRNI | 1 | Caenorhabditis elegans | A362 | AAKLDNDSSNV | 1 | Drosophila melanogaster | D150 | LYYLMDLSYSM | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | D150 | LYYLMDLSKSM | 1 | Drosophila melanogaster | D157 | SYSMKDDLENV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D157 | SYSMKDDKQKL | 1 | Caenorhabditis elegans | D157 | SKSMEDDKAKL | 1 | Drosophila melanogaster | D158 | YSMKDDLENVK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D158 | YSMKDDKQKLS | 1 | Caenorhabditis elegans | D158 | KSMEDDKAKLS | 1 | Drosophila melanogaster | D246 | ISGNLDSPEGG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D246 | ISGNLDAPEGG | 1 | Caenorhabditis elegans | D246 | VSGNLDAPEGG | 1 | Drosophila melanogaster | D279 | LVFSTDAGFHF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D279 | IVFSTDAGFHF | 1 | Caenorhabditis elegans | D279 | LVFSTDAGFHY | 1 | Drosophila melanogaster | E189 | FGSFVEKTVMP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E189 | FGSFIDKKLMP | 1 | Caenorhabditis elegans | E189 | FGSFVDKVLMP | 1 | Drosophila melanogaster | E249 | NLDSPEGGFDA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E249 | NLDAPEGGFDA | 2 | Caenorhabditis elegans, Drosophila melanogaster | H283 | TDAGFHFAGDG | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | H283 | TDAGFHYAGDG | 1 | Drosophila melanogaster | N244 | QRISGNLDSPE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N244 | AEISGNLDAPE | 1 | Caenorhabditis elegans | N244 | ATVSGNLDAPE | 1 | Drosophila melanogaster | P248 | GNLDSPEGGFD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P248 | GNLDAPEGGFD | 2 | Caenorhabditis elegans, Drosophila melanogaster | S152 | YLMDLSYSMKD | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | S152 | YLMDLSKSMED | 1 | Drosophila melanogaster | S154 | MDLSYSMKDDL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S154 | MDLSYSMKDDK | 1 | Caenorhabditis elegans | S154 | MDLSKSMEDDK | 1 | Drosophila melanogaster | S247 | SGNLDSPEGGF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S247 | SGNLDAPEGGF | 2 | Caenorhabditis elegans, Drosophila melanogaster | Y153 | LMDLSYSMKDD | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | Y153 | LMDLSKSMEDD | 1 | Drosophila melanogaster |
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