mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ITGB1
Gene summary
Basic gene Info.Gene symbolITGB1
Gene nameintegrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
CytomapUCSC genome browser: 10p11.2
Type of geneprotein-coding
Descriptionglycoprotein IIaintegrin VLA-4 beta subunitintegrin beta-1very late activation protein, beta polypeptide
Modification date20141222
dbXrefs MIM : 135630
Ensembl : ENSG00000150093
HPRD : 00628
Vega : OTTHUMG00000017928
ProteinUniProt: P05556
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ITGB1
BioGPS: 3688
PathwayNCI Pathway Interaction Database: ITGB1
Pathway Commons: ITGB1
ContextiHOP: ITGB1
ligand binding site mutation search in PubMed: ITGB1
UCL Cancer Institute: ITGB1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0007159leukocyte cell-cell adhesion1715889
GO:0010710regulation of collagen catabolic process10455171
GO:0090004positive regulation of establishment of protein localization to plasma membrane10455171

Ligand binding site mutations for ITGB1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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 IDPDB titlePDB structure
3VI3Crystal structure of alpha5beta1 integrin headpiece (ligand-free form)

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)
* Left PPI network was created from samples with mutations in the LBS of ITGB1 and the right PPI network was created from samples without mutations in the LBS of ITGB1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ITGB1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027627Neoplasm Metastasis11AlteredExpression, Biomarker
umls:C0007097Carcinoma8AlteredExpression, Biomarker, GeneticVariation
umls:C0007137Carcinoma, Squamous Cell6AlteredExpression, Biomarker
umls:C0878544Cardiomyopathies2AlteredExpression, Biomarker
umls:C0007131Carcinoma, Non-Small-Cell Lung2Biomarker
umls:C0007193Cardiomyopathy, Dilated1Biomarker
umls:C0018801Heart Failure1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00098Anti-thymocyte Globulin (Rabbit)Biotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ITGB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ITGB1
Multiple alignments for P05556 in multiple species
LBSAA sequence# speciesSpecies
A362VGTLSANSSNV2Homo sapiens, Bos taurus
A362VGTLSGNSSNV2Mus musculus, Rattus norvegicus
A362VGVLANDSRNI1Caenorhabditis elegans
A362AAKLDNDSSNV1Drosophila melanogaster
D150LYYLMDLSYSM5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
D150LYYLMDLSKSM1Drosophila melanogaster
D157SYSMKDDLENV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D157SYSMKDDKQKL1Caenorhabditis elegans
D157SKSMEDDKAKL1Drosophila melanogaster
D158YSMKDDLENVK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D158YSMKDDKQKLS1Caenorhabditis elegans
D158KSMEDDKAKLS1Drosophila melanogaster
D246ISGNLDSPEGG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D246ISGNLDAPEGG1Caenorhabditis elegans
D246VSGNLDAPEGG1Drosophila melanogaster
D279LVFSTDAGFHF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D279IVFSTDAGFHF1Caenorhabditis elegans
D279LVFSTDAGFHY1Drosophila melanogaster
E189FGSFVEKTVMP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E189FGSFIDKKLMP1Caenorhabditis elegans
E189FGSFVDKVLMP1Drosophila melanogaster
E249NLDSPEGGFDA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E249NLDAPEGGFDA2Caenorhabditis elegans, Drosophila melanogaster
H283TDAGFHFAGDG5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
H283TDAGFHYAGDG1Drosophila melanogaster
N244QRISGNLDSPE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N244AEISGNLDAPE1Caenorhabditis elegans
N244ATVSGNLDAPE1Drosophila melanogaster
P248GNLDSPEGGFD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P248GNLDAPEGGFD2Caenorhabditis elegans, Drosophila melanogaster
S152YLMDLSYSMKD5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
S152YLMDLSKSMED1Drosophila melanogaster
S154MDLSYSMKDDL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S154MDLSYSMKDDK1Caenorhabditis elegans
S154MDLSKSMEDDK1Drosophila melanogaster
S247SGNLDSPEGGF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S247SGNLDAPEGGF2Caenorhabditis elegans, Drosophila melanogaster
Y153LMDLSYSMKDD5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
Y153LMDLSKSMEDD1Drosophila melanogaster

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