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Aliases for ITGB1BP1 Gene

Aliases for ITGB1BP1 Gene

  • Integrin Beta 1 Binding Protein 1 2 3
  • Integrin Cytoplasmic Domain-Associated Protein 1 2 3 4
  • ICAP1 3 4 6
  • Integrin Cytoplasmic Domain-Associated Protein 1-Alpha 2 3
  • Integrin Cytoplasmic Domain-Associated Protein 1-Beta 2 3
  • Bodenin 2 3
  • ICAP1A 3 6
  • ICAP1B 3 6
  • ICAP-1 3 4
  • Integrin Beta-1-Binding Protein 1 3
  • ICAP-1alpha 3
  • ICAP-1A 3
  • ICAP-1B 3

External Ids for ITGB1BP1 Gene

Previous GeneCards Identifiers for ITGB1BP1 Gene

  • GC02M009567
  • GC02M009496

Summaries for ITGB1BP1 Gene

Entrez Gene Summary for ITGB1BP1 Gene

  • 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 are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITGB1BP1 Gene

ITGB1BP1 (Integrin Beta 1 Binding Protein 1) is a Protein Coding gene. Diseases associated with ITGB1BP1 include cavernous malformation. Among its related pathways are Development Angiotensin activation of ERK. GO annotations related to this gene include protein kinase binding and integrin binding.

UniProtKB/Swiss-Prot for ITGB1BP1 Gene

  • 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 proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin-and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter.

Gene Wiki entry for ITGB1BP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB1BP1 Gene

Genomics for ITGB1BP1 Gene

Regulatory Elements for ITGB1BP1 Gene

Genomic Location for ITGB1BP1 Gene

Start:
9,403,475 bp from pter
End:
9,423,564 bp from pter
Size:
20,090 bases
Orientation:
Minus strand

Genomic View for ITGB1BP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITGB1BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB1BP1 Gene

Proteins for ITGB1BP1 Gene

  • Protein details for ITGB1BP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14713-ITBP1_HUMAN
    Recommended name:
    Integrin beta-1-binding protein 1
    Protein Accession:
    O14713
    Secondary Accessions:
    • D6W4Y9
    • O14714
    • Q53RS0

    Protein attributes for ITGB1BP1 Gene

    Size:
    200 amino acids
    Molecular mass:
    21782 Da
    Quaternary structure:
    • Interacts (via N-terminus and PTB domain) with ROCK1 (By similarity). Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A. Interacts (via C-terminal region) with ITGB1 (via C-terminal cytoplasmic tail); the interaction prevents talin TLN1 binding to ITGB1 and KRIT1 and ITGB1 compete for the same binding site. Interacts with KRIT1 (via N-terminal NPXY motif); the interaction induces the opening conformation of KRIT1 and KRIT1 and ITGB1 compete for the same binding site. Isoform 2 does not interact with ITGB1. Interacts with CDC42 (GTP- or GDP-bound form); the interaction is increased with the CDC42-membrane bound forms and prevents both CDC42 activation and cell spreading. Interacts (via C-terminal domain region) with NME2. Interacts with FERMT2 and RAC1.

    Three dimensional structures from OCA and Proteopedia for ITGB1BP1 Gene

    Alternative splice isoforms for ITGB1BP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB1BP1 Gene

Proteomics data for ITGB1BP1 Gene at MOPED

Post-translational modifications for ITGB1BP1 Gene

  • Phosphorylation at Thr-38 seems to enhance integrin alpha5beta1-mediated cell adhesion. The degree of phosphorylation is regulated by integrin-dependent cell-matrix interaction.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ITGB1BP1 Gene

Domains for ITGB1BP1 Gene

Protein Domains for ITGB1BP1 Gene

Suggested Antigen Peptide Sequences for ITGB1BP1 Gene

Graphical View of Domain Structure for InterPro Entry

O14713

UniProtKB/Swiss-Prot:

ITBP1_HUMAN :
  • O14713
Domain:
  • Contains 1 PID domain.
genes like me logo Genes that share domains with ITGB1BP1: view

No data available for Gene Families for ITGB1BP1 Gene

Function for ITGB1BP1 Gene

Molecular function for ITGB1BP1 Gene

UniProtKB/Swiss-Prot 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 proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin-and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter.

Gene Ontology (GO) - Molecular Function for ITGB1BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005092 GDP-dissociation inhibitor activity IDA 11807099
GO:0005178 integrin binding IPI 12473654
GO:0005515 protein binding IPI 11807099
GO:0008565 protein transporter activity IDA 17916086
GO:0019900 kinase binding --
genes like me logo Genes that share ontologies with ITGB1BP1: view
genes like me logo Genes that share phenotypes with ITGB1BP1: view

Animal Models for ITGB1BP1 Gene

MGI Knock Outs for ITGB1BP1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ITGB1BP1 Gene

Localization for ITGB1BP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB1BP1 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane. Cell projection, lamellipodium. Cell projection, ruffle. Note=Nucleocytoplasmic shuttling protein; shuttles between nucleus and cytoplasm in a integrin-dependent manner; probably sequestered in the cytosol by ITGB1. Its localization is dependent on the stage of cell spreading on fibronectin; cytoplasmic in case of round cells, corresponding to the initial step of cell spreading, or nuclear in case of well spread cells. Colocalizes with ROCK1 and NME2 at beta-1 integrin engagement sites. Together with ITGB1 and NME2 is recruited to beta-1 integrin-rich peripheral ruffles and lamellipodia during initial cell spreading on fibronectin and/or collagen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGB1BP1 Gene COMPARTMENTS Subcellular localization image for ITGB1BP1 gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ITGB1BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 11919189
GO:0005634 nucleus IDA 12473654
GO:0005737 cytoplasm IDA 11919189
GO:0005829 cytosol IDA 11919189
GO:0005856 cytoskeleton ISS --
genes like me logo Genes that share ontologies with ITGB1BP1: view

Pathways for ITGB1BP1 Gene

genes like me logo Genes that share pathways with ITGB1BP1: view

Pathways by source for ITGB1BP1 Gene

1 GeneGo (Thomson Reuters) pathway for ITGB1BP1 Gene

Gene Ontology (GO) - Biological Process for ITGB1BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002043 blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA 20616313
GO:0006351 transcription, DNA-templated IEA --
GO:0006469 negative regulation of protein kinase activity IDA 20616313
GO:0006933 negative regulation of cell adhesion involved in substrate-bound cell migration ISS --
GO:0007160 cell-matrix adhesion IDA 9281591
genes like me logo Genes that share ontologies with ITGB1BP1: view

Transcripts for ITGB1BP1 Gene

Unigene Clusters for ITGB1BP1 Gene

Integrin beta 1 binding protein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITGB1BP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB1BP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f · 3g ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - -
SP11: - - - - - - -
SP12: - - - - - -
SP13: -
SP14: - - - - - - - - - - - - -
SP15: - - - - - - - - - - -
SP16: - - -
SP17: - - - - - - - - - - - - - - - -
SP18: - - - -

ExUns: 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - -
SP6: -
SP7: -
SP8: - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - - - -
SP18:

Relevant External Links for ITGB1BP1 Gene

GeneLoc Exon Structure for
ITGB1BP1
ECgene alternative splicing isoforms for
ITGB1BP1

Expression for ITGB1BP1 Gene

mRNA expression in normal human tissues for ITGB1BP1 Gene

Protein differential expression in normal tissues for ITGB1BP1 Gene

This gene is overexpressed in Heart (53.0) and Testis (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITGB1BP1 Gene

SOURCE GeneReport for Unigene cluster for ITGB1BP1 Gene Hs.467662

mRNA Expression by UniProt/SwissProt for ITGB1BP1 Gene

O14713-ITBP1_HUMAN
Tissue specificity: Expressed in endothelial cells and fibroblasts (at protein level). Ubiquitously expressed. Expressed in intestine, colon, testis, ovary, thymus, spleen and prostate.
genes like me logo Genes that share expressions with ITGB1BP1: view

Expression partners for ITGB1BP1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ITGB1BP1 Gene

Orthologs for ITGB1BP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGB1BP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITGB1BP1 35
  • 89 (n)
  • 97.5 (a)
ITGB1BP1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGB1BP1 35
  • 91.5 (n)
  • 98 (a)
ITGB1BP1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgb1bp1 35
  • 84.25 (n)
  • 94.47 (a)
Itgb1bp1 16
Itgb1bp1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITGB1BP1 35
  • 99.67 (n)
  • 100 (a)
ITGB1BP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgb1bp1 35
  • 83.92 (n)
  • 94.47 (a)
oppossum
(Monodelphis domestica)
Mammalia ITGB1BP1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB1BP1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB1BP1 35
  • 81.74 (n)
  • 93.47 (a)
ITGB1BP1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGB1BP1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124969 35
  • 75.04 (n)
  • 82.56 (a)
zebrafish
(Danio rerio)
Actinopterygii itgb1bp1 35
  • 71.72 (n)
  • 78.79 (a)
itgb1bp1 36
  • 79 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for ITGB1BP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITGB1BP1 Gene

ENSEMBL:
Gene Tree for ITGB1BP1 (if available)
TreeFam:
Gene Tree for ITGB1BP1 (if available)

Paralogs for ITGB1BP1 Gene

Pseudogenes.org Pseudogenes for ITGB1BP1 Gene

genes like me logo Genes that share paralogs with ITGB1BP1: view

No data available for Paralogs for ITGB1BP1 Gene

Variants for ITGB1BP1 Gene

Sequence variations from dbSNP and Humsavar for ITGB1BP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs4798 -- 9,406,676(-) AATGT(A/G)TCCTA utr-variant-3-prime
rs1136168 -- 9,406,726(-) ATTTT(C/T)TGAAG utr-variant-3-prime
rs1801980 -- 9,418,683(-) AAGGG(C/T)AAAAA reference, synonymous-codon, intron-variant
rs3841084 -- 9,407,897(-) CCCCA(-/C)ACCCC intron-variant
rs4074976 -- 9,406,566(-) AGAAG(A/C)CTAGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ITGB1BP1 Gene

Variant ID Type Subtype PubMed ID
esv2478125 CNV Deletion 19546169
esv998356 CNV Loss 20482838
esv28515 CNV Gain+Loss 19812545
esv2719619 CNV Deletion 23290073
dgv626e201 CNV Deletion 23290073
nsv2602 CNV Loss 18451855

Relevant External Links for ITGB1BP1 Gene

HapMap Linkage Disequilibrium report
ITGB1BP1
Human Gene Mutation Database (HGMD)
ITGB1BP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB1BP1 Gene

Disorders for ITGB1BP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ITGB1BP1 Gene in MalaCards »

(1) Diseases for ITGB1BP1 Gene including...

Relevant External Links for ITGB1BP1

Genetic Association Database (GAD)
ITGB1BP1
Human Genome Epidemiology (HuGE) Navigator
ITGB1BP1
genes like me logo Genes that share disorders with ITGB1BP1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ITGB1BP1 Gene

Publications for ITGB1BP1 Gene

  1. ICAP-1, a novel beta1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important NPXY sequence motif of beta1 integrin. (PMID: 9281591) Chang D.D. … Liu J. (J. Cell Biol. 1997) 2 3 4 23
  2. KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. (PMID: 11854171) Zawistowski J.S. … Marchuk D.A. (Hum. Mol. Genet. 2002) 2 3 4 23
  3. Disruption of focal adhesions by integrin cytoplasmic domain- associated protein-1 alpha. (PMID: 12473654) Bouvard D. … Block M.R. (J. Biol. Chem. 2003) 3 4 23
  4. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. (PMID: 11741838) Zhang J. … Dietz H.C. (Hum. Mol. Genet. 2001) 3 4 23
  5. The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading. (PMID: 11807099) Degani S. … Tarone G. (J. Cell Biol. 2002) 3 4 23

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