Gene Gene information from NCBI Gene database.
Entrez ID 9270
Gene name Integrin subunit beta 1 binding protein 1
Gene symbol ITGB1BP1
Synonyms (NCBI Gene)
ICAP-1AICAP-1BICAP-1alphaICAP1ICAP1AICAP1B
Chromosome 2
Chromosome location 2p25.1
Summary The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein
miRNA miRNA information provided by mirtarbase database.
33
miRTarBase ID miRNA Experiments Reference
MIRT1074092 hsa-miR-383 CLIP-seq
MIRT1074093 hsa-miR-3941 CLIP-seq
MIRT1074094 hsa-miR-4310 CLIP-seq
MIRT1074095 hsa-miR-466 CLIP-seq
MIRT1074096 hsa-miR-4672 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
94
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001726 Component Ruffle IBA
GO:0001726 Component Ruffle IDA 11919189
GO:0001726 Component Ruffle IEA
GO:0002043 Process Blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA 20616313
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607153 23927 ENSG00000119185
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14713
Protein name Integrin beta-1-binding protein 1 (Integrin cytoplasmic domain-associated protein 1) (ICAP-1)
Protein function Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell
PDB 4DX8 , 4DX9 , 4JIF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10480 ICAP-1_inte_bdg 1 200 Beta-1 integrin binding protein Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cells and fibroblasts (at protein level). Ubiquitously expressed. Expressed in intestine, colon, testis, ovary, thymus, spleen and prostate. {ECO:0000269|PubMed:9281591, ECO:0000269|PubMed:9867804}.
Sequence
Sequence length 200
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
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
Bone Diseases, Developmental Bone Disease CTD_human_DG 17567669
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36212176 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26658839
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31424965
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 26658839
★☆☆☆☆
Found in Text Mining only