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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ITGB1BP1
integrin subunit beta 1 binding protein 1
Chromosome 2 · 2p25.1
NCBI Gene: 9270Ensembl: ENSG00000119185.14HGNC: HGNC:23927UniProt: B4DQY5
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
blood vessel diameter maintenanceGDP-dissociation inhibitor activityintegrin bindingprotein bindingneurodegenerative diseasediabetic ketoacidosiscoronary artery diseasecraniometadiaphyseal dysplasia, wormian bone type
✦AI Summary

ITGB1BP1 (integrin subunit beta 1 binding protein 1) is a key negative regulator of integrin α5β1 activation that controls cell-matrix adhesion dynamics. The protein functions by binding to the ITGB1 cytoplasmic tail and competing with talin to prevent integrin clustering at focal adhesions, thereby modulating focal adhesion assembly and osteoblast spreading on fibronectin and collagen 1. ITGB1BP1 also acts as a guanine nucleotide dissociation inhibitor for Rho family GTPases (CDC42 and RAC1), reducing their active GTP-bound states during cell adhesion, and regulates ROCK-mediated contractility through monoubiquitylation by Smurf1, serving as a molecular switch coordinating extracellular matrix density and rigidity sensing 1. In angiogenesis, ITGB1BP1 functions as a negative regulator, attenuating endothelial cell proliferation and migration through Notch pathway activation. Clinically, ITGB1BP1 emerges as a significant prognostic marker in hepatocellular carcinoma, incorporated into an integrin-based signature predicting patient outcomes independently of standard clinicopathological parameters 2. The gene shows involvement in bone mineralization, myoblast migration on laminin, and appears in genome-wide adaptation studies of African cattle alongside implications for human diseases 3. Additionally, ITGB1BP1 may serve as a computational target in plant-derived miRNA cross-kingdom regulation studies with potential disease relevance 4.

Sources cited
1
ITGB1BP1 (ICAP-1) monoubiquitylation coordinates matrix density and rigidity sensing; regulates focal adhesion organization, integrin activation, and cell migration through ROCK2-MRCKα balance
PMID: 28049720
2
ITGB1BP1 is part of an 8-gene integrin-based prognostic signature for hepatocellular carcinoma that independently predicts overall survival and tumor microenvironment characteristics
PMID: 36212176
3
ITGB1BP1 is identified as an adaptive gene involved in common physiological activities with potential parallel adaptation between African cattle, dogs, and humans
PMID: 35428239
4
ITGB1BP1 identified as a top hub gene in cross-kingdom miRNA-mediated regulation with implications for human diseases including cancer
PMID: 31797719
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
diabetic ketoacidosisOpen Targets
0.31Weak
coronary artery diseaseOpen Targets
0.08Suggestive
craniometadiaphyseal dysplasia, wormian bone typeOpen Targets
0.05Suggestive
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeOpen Targets
0.04Suggestive
otospondylomegaepiphyseal dysplasia, autosomal recessiveOpen Targets
0.04Suggestive
osteoglophonic dysplasiaOpen Targets
0.04Suggestive
pseudoachondroplasiaOpen Targets
0.04Suggestive
Bruck syndromeOpen Targets
0.04Suggestive
Metaphyseal chondrodysplasia, Schmid typeOpen Targets
0.04Suggestive
Schmid metaphyseal chondrodysplasiaOpen Targets
0.04Suggestive
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disabilityOpen Targets
0.04Suggestive
Spondyloepiphyseal dysplasia, Nishimura typeOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
spondyloepiphyseal dysplasia tardaOpen Targets
0.04Suggestive
progressive pseudorheumatoid arthropathy of childhoodOpen Targets
0.04Suggestive
osteogenesis imperfecta type 8Open Targets
0.04Suggestive
achondroplasiaOpen Targets
0.04Suggestive
spondylometaphyseal dysplasia, Kozlowski typeOpen Targets
0.04Suggestive
Eiken syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KRIT1Protein interaction100%ITGB1Protein interaction100%CCM2Protein interaction99%PDCD10Protein interaction92%RAP1AProtein interaction89%MAP3K3Protein interaction83%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
83%
Brain
69%
Lung
54%
Ovary
54%
Liver
33%
Gene Interaction Network
Click a node to explore
ITGB1BP1KRIT1ITGB1CCM2PDCD10RAP1AMAP3K3
PROTEIN STRUCTURE
Preparing viewer…
PDB4JIF · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.56 [0.35–0.96]
RankingsWhere ITGB1BP1 stands among ~20K protein-coding genes
  • #8,444of 20,598
    Most Researched53
  • #8,983of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedITGB1BP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ICAP-1 monoubiquitylation coordinates matrix density and rigidity sensing for cell migration through ROCK2-MRCKα balance.
PMID: 28049720
J Cell Sci · 2017
1.00
2
Transcriptome-wide miRNA identification of
PMID: 31797719
Plant Signal Behav · 2020
0.90
3
Genome-wide investigations reveal the population structure and selection signatures of Nigerian cattle adaptation in the sub-Saharan tropics.
PMID: 35428239
BMC Genomics · 2022
0.80
4
Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations.
PMID: 16465592
Mamm Genome · 2006
0.70
5
Prognostic Value of an Integrin-Based Signature in Hepatocellular Carcinoma and the Identification of Immunological Role of LIMS2.
PMID: 36212176
Dis Markers · 2022
0.60