Gene Gene information from NCBI Gene database.
Entrez ID 3688
Gene name Integrin subunit beta 1
Gene symbol ITGB1
Synonyms (NCBI Gene)
CD29FNRBGPIIAMDF2MSK12VLA-BETAVLAB
Chromosome 10
Chromosome location 10p11.22
Summary Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of process
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1565818580 ->T Risk-factor Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1015
miRTarBase ID miRNA Experiments Reference
MIRT004015 hsa-miR-183-5p ImmunoblotImmunocytochemistryLuciferase reporter assayqRT-PCR 19940135
MIRT002731 hsa-miR-124-3p Microarray 15685193
MIRT002731 hsa-miR-124-3p ImmunoblotImmunohistochemistryqRT-PCRWestern blot 21196113
MIRT002731 hsa-miR-124-3p ImmunoblotImmunohistochemistryqRT-PCRWestern blot 21196113
MIRT002731 hsa-miR-124-3p Luciferase reporter assay 21112327
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
FOXF2 Repression 19562724
HOXD1 Unknown 21501586
HOXD3 Unknown 14610084
PAX6 Unknown 10954416
TWIST1 Activation 17487558
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
205
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000132 Process Establishment of mitotic spindle orientation IMP 30992345
GO:0000287 Function Magnesium ion binding IDA 33962943
GO:0001525 Process Angiogenesis IDA 29763414
GO:0001525 Process Angiogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
135630 6153 ENSG00000150093
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05556
Protein name Integrin beta-1 (Fibronectin receptor subunit beta) (Glycoprotein IIa) (GPIIA) (VLA-4 subunit beta) (CD antigen CD29)
Protein function Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1,
PDB 3G9W , 3T9K , 3VI3 , 3VI4 , 4DX9 , 4WJK , 4WK0 , 4WK2 , 4WK4 , 7CEB , 7CEC , 7NWL , 7NXD , 8RPQ , 8W30 , 9B9J , 9B9K , 9CKV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17205 PSI_integrin 25 76 Integrin plexin domain Domain
PF00362 Integrin_beta 138 382 Integrin beta chain VWA domain Domain
PF18372 I-EGF_1 466 495 Integrin beta epidermal growth factor like domain 1 Domain
PF07974 EGF_2 599 630 EGF-like domain Domain
PF07965 Integrin_B_tail 640 728 Integrin beta tail domain Domain
PF08725 Integrin_b_cyt 752 796 Integrin beta cytoplasmic domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in vascular smooth muscle cells (at protein level). {ECO:0000269|PubMed:35802072}.; TISSUE SPECIFICITY: [Isoform 1]: Expressed in placenta (at protein level) (PubMed:33962943). Widely expressed, other isoforms are generally c
Sequence
Sequence length 798
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Rotavirus
Rap1 signaling pathway
Phagosome
PI3K-Akt signaling pathway
Axon guidance
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Tight junction
Platelet activation
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Bacterial invasion of epithelial cells
Pathogenic Escherichia coli infection
Shigellosis
Pertussis
Yersinia infection
Leishmaniasis
Toxoplasmosis
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Elastic fibre formation
Fibronectin matrix formation
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Cell surface interactions at the vascular wall
Basigin interactions
Molecules associated with elastic fibres
Integrin cell surface interactions
Laminin interactions
Syndecan interactions
ECM proteoglycans
Signal transduction by L1
Localization of the PINCH-ILK-PARVIN complex to focal adhesions
RHO GTPases Activate Formins
Interleukin-4 and Interleukin-13 signaling
MET activates PTK2 signaling
MET interacts with TNS proteins
HCMV Early Events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN INJURIES, TRAUMATIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10372817
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 14612932, 16732726
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 27289231
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23677397
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 20886051, 29796184
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 9407948
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 28766250
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21272192, 30918899, 34556089, 35029059, 39657893 Associate
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma LHGDN 17498594
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 21255062
★☆☆☆☆
Found in Text Mining only