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mutLBSgeneDB |
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| Gene summary for ITGB1BP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ITGB1BP1 |
| Gene name | integrin beta 1 binding protein 1 | |
| Synonyms | ICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B | |
| Cytomap | UCSC genome browser: 2p25.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004763.3, NM_022334.3, | |
| Description | ICAP-1bodeninintegrin beta-1-binding protein 1integrin cytoplasmic domain-associated protein 1integrin cytoplasmic domain-associated protein 1-alphaintegrin cytoplasmic domain-associated protein 1-beta | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607153 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000119185 | ||
| HPRD : 06194 | ||
| Vega : OTTHUMG00000090414 | ||
| Protein | UniProt: O14713 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITGB1BP1 | |
| BioGPS: 9270 | ||
| Pathway | NCI Pathway Interaction Database: ITGB1BP1 | |
| KEGG: ITGB1BP1 | ||
| REACTOME: ITGB1BP1 | ||
| Pathway Commons: ITGB1BP1 | ||
| Context | iHOP: ITGB1BP1 | |
| ligand binding site mutation search in PubMed: ITGB1BP1 | ||
| UCL Cancer Institute: ITGB1BP1 | ||
| 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:0002043 | blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 20616313 | GO:0006469 | negative regulation of protein kinase activity | 20616313 | GO:0007160 | cell-matrix adhesion | 9281591 | GO:0007229 | integrin-mediated signaling pathway | 11919189 | GO:0008284 | positive regulation of cell proliferation | 15703214 | GO:0008285 | negative regulation of cell proliferation | 20616313 | GO:0010595 | positive regulation of endothelial cell migration | 20616313 | GO:0015031 | protein transport | 17916086 | GO:0032091 | negative regulation of protein binding | 12473654 | GO:0032148 | activation of protein kinase B activity | 20616313 | GO:0035148 | tube formation | 20616313 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 20616313 | GO:0043088 | regulation of Cdc42 GTPase activity | 11807099 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 20616313 | GO:0045747 | positive regulation of Notch signaling pathway | 20616313 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 15703214 | GO:0050880 | regulation of blood vessel size | 20616313 | GO:0051895 | negative regulation of focal adhesion assembly | 12473654 | GO:0051897 | positive regulation of protein kinase B signaling | 20616313 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 20616313 | GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | 20616313 | GO:0090315 | negative regulation of protein targeting to membrane | 11807099 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 11807099 |
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| Ligand binding site mutations for ITGB1BP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E83 | E83Q | BLCA | 1 | L195 | S197Y | BLCA | 1 | L187 | L187F | STAD | 1 | D146 | D146A | 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 ITGB1BP1 |
| 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 | L187 | L187F | -1.1984832 | L195 | S197Y | -0.51648127 | D146 | D146A | -0.26867459 | E83 | E83Q | -0.11197115 |
| (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 ITGB1BP1 from PDB |
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| Differential gene expression and gene-gene network for ITGB1BP1 |
| 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 ITGB1BP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0005941 | Bone Diseases, Developmental | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ITGB1BP1 |
| 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 ITGB1BP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PHE,ARG,PRO,SER,PRO,LEU,GLU,ARG,ILE,LYS,THR,ASN,VAL,ILE,ASN,PRO,ALA,TYR,ALA) | 4jif | A | D146 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | K | E83 L187 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | E | L187 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | c | L187 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | e | L187 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO) | 4dx9 | U | L187 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS,TYR) | 4dx9 | W | L187 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | C | L187 L195 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | 5 | L187 L195 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | Y | L187 L195 | III | Peptide ligand (THR,VAL,VAL,ASN,PRO) | 4dx9 | y | L187 L195 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO,LYS) | 4dx9 | G | L195 | III | Peptide ligand (LYS,SER,ALA,VAL,THR,THR,VAL,VAL,ASN,PRO) | 4dx9 | g | L195 |
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| Conservation information for LBS of ITGB1BP1 |
| Multiple alignments for O14713 in multiple species |
| LBS | AA sequence | # species | Species | C143 | IIRMVCYDDGL | 3 | Homo sapiens, Bos taurus, Mus musculus | C184 | QAQAICKVLST | 3 | Homo sapiens, Bos taurus, Mus musculus | D145 | RMVCYDDGLGA | 2 | Homo sapiens, Mus musculus | D145 | RMVCYDDGLGS | 1 | Bos taurus | D146 | MVCYDDGLGAG | 2 | Homo sapiens, Mus musculus | D146 | MVCYDDGLGSG | 1 | Bos taurus | D93 | LINYIDVAQQD | 3 | Homo sapiens, Bos taurus, Mus musculus | E83 | EGKSLEGPLDL | 2 | Bos taurus, Mus musculus | E83 | EGKGLEGPLDL | 1 | Homo sapiens | F103 | DGKLPFVPLEE | 2 | Bos taurus, Mus musculus | F103 | DGKLPFVPPEE | 1 | Homo sapiens | F191 | VLSTAFDSVLT | 3 | Homo sapiens, Bos taurus, Mus musculus | G147 | VCYDDGLGAGK | 2 | Homo sapiens, Mus musculus | G147 | VCYDDGLGSGK | 1 | Bos taurus | I138 | HALYLIIRMVC | 3 | Homo sapiens, Bos taurus, Mus musculus | I139 | ALYLIIRMVCY | 3 | Homo sapiens, Bos taurus, Mus musculus | I89 | GPLDLINYIDV | 3 | Homo sapiens, Bos taurus, Mus musculus | L135 | LHRHALYLIIR | 3 | Homo sapiens, Bos taurus, Mus musculus | L177 | YQCNSLEQAQA | 3 | Homo sapiens, Bos taurus, Mus musculus | L187 | AICKVLSTAFD | 3 | Homo sapiens, Bos taurus, Mus musculus | L195 | AFDSVLTSEKP | 2 | Homo sapiens, Bos taurus | L195 | AFDSVLTSDKS | 1 | Mus musculus | L30 | SVDSSLGGLSR | 3 | Homo sapiens, Bos taurus, Mus musculus | M141 | YLIIRMVCYDD | 3 | Homo sapiens, Bos taurus, Mus musculus | N164 | TTDASNEEYSL | 2 | Homo sapiens, Mus musculus | N164 | TTDANNQEYSL | 1 | Bos taurus | P85 | KSLEGPLDLIN | 2 | Bos taurus, Mus musculus | P85 | KGLEGPLDLIN | 1 | Homo sapiens | Q181 | SLEQAQAICKV | 3 | Homo sapiens, Bos taurus, Mus musculus | Q96 | YIDVAQQDGKL | 3 | Homo sapiens, Bos taurus, Mus musculus | R140 | LYLIIRMVCYD | 3 | Homo sapiens, Bos taurus, Mus musculus | S188 | ICKVLSTAFDS | 3 | Homo sapiens, Bos taurus, Mus musculus | T160 | LALKTTDASNE | 2 | Homo sapiens, Mus musculus | T160 | LALKTTDANNQ | 1 | Bos taurus | V142 | LIIRMVCYDDG | 3 | Homo sapiens, Bos taurus, Mus musculus | Y136 | HRHALYLIIRM | 3 | Homo sapiens, Bos taurus, Mus musculus | Y144 | IRMVCYDDGLG | 3 | Homo sapiens, Bos taurus, Mus musculus |
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