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ITGB1BP1 Gene

protein-coding   GIFtS: 55
GCID: GC02M009496

Integrin Beta 1 Binding Protein 1

  See ITGB1BP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Integrin Beta 1 Binding Protein 11 2     ICAP1A2 5
Integrin Cytoplasmic Domain-Associated Protein 11 2 3     ICAP1B2 5
ICAP12 3 5     ICAP-1A2
bodenin1 2     ICAP-1B2
Integrin Cytoplasmic Domain-Associated Protein 1-Alpha1 2     ICAP-1alpha2
Integrin Cytoplasmic Domain-Associated Protein 1-Beta1 2     Integrin Beta-1-Binding Protein 12
ICAP-12 3     

External Ids:    HGNC: 239271   Entrez Gene: 92702   Ensembl: ENSG000001191857   OMIM: 6071535   UniProtKB: O147133   

Export aliases for ITGB1BP1 gene to outside databases

Previous GC identifers: GC02M009567 GC02M009391


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and cerebral cavernous malformation. GO annotations related to this gene include integrin binding and protein kinase binding.

UniProtKB/Swiss-Prot: ITBP1_HUMAN, O14713
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 Wiki entry for ITGB1BP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005334.17  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITGB1BP1 gene promoter:
         p53   MAZR   Egr-1   Olf-1   CUTL1   Nkx2-5   HNF-1A   HNF-1   Pax-4a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGB1BP1 promoter sequence
   Search Chromatin IP Primers for ITGB1BP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITGB1BP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p25.2   Ensembl cytogenetic band:  2p25.1   HGNC cytogenetic band: 2p25.2

ITGB1BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB1BP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M009496:  view genomic region     (about GC identifiers)

Start:
9,543,604 bp from pter      End:
9,563,676 bp from pter
Size:
20,073 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ITBP1_HUMAN, O14713 (See protein sequence)
Recommended Name: Integrin beta-1-binding protein 1  
Size: 200 amino acids; 21782 Da
Subunit: 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-terminus region) with ITGB1 (via C-terminus 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-terminus 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-terminus domain region) with NME2. Interacts with
FERMT2 and RAC1
4 PDB 3D structures from and Proteopedia for ITGB1BP1:
1K11 (3D)        4DX8 (3D)        4DX9 (3D)        4JIF (3D)    
Secondary accessions: D6W4Y9 O14714 Q53RS0
Alternative splicing: 2 isoforms:  O14713-1   O14713-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ITGB1BP1: NX_O14713

Explore proteomics data for ITGB1BP1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Thr-38 seems to enhance integrin alpha5beta1-mediated cell adhesion. The degree of
    phosphorylation is regulated by integrin-dependent cell-matrix interaction1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ITGB1BP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004754.1  NP_071729.1  

    ENSEMBL proteins: 
     ENSP00000353850   ENSP00000238091   ENSP00000347504   ENSP00000433814   ENSP00000419452  
     ENSP00000352743   ENSP00000419524   ENSP00000389704   ENSP00000420770   ENSP00000417940  
     ENSP00000419814   ENSP00000418526   ENSP00000417850   ENSP00000418947  

    ITGB1BP1 Human Recombinant Protein Products:

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    Novus Biologicals ITGB1BP1 Proteins
    Novus Biologicals ITGB1BP1 Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ITGB1BP1 

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    Search eBioscience for ELISAs for ITGB1BP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR006020 PTB/PI_dom
     IPR019517 Integrin-bd_ICAP-1

    Graphical View of Domain Structure for InterPro Entry O14713

    ProtoNet protein and cluster: O14713

    1 Blocks protein domain: IPB006020 Phosphotyrosine interaction domain

    UniProtKB/Swiss-Prot: ITBP1_HUMAN, O14713
    Similarity: Contains 1 PID domain


    Find genes that share domains with ITGB1BP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITBP1_HUMAN, O14713
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005092GDP-dissociation inhibitor activity IDA11807099
    GO:0005178integrin binding IPI12473654
    GO:0005515protein binding IPI11807099
    GO:0008565protein transporter activity IDA17916086
    GO:0019901protein kinase binding IEA--
         
    Find genes that share ontologies with ITGB1BP1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ITGB1BP1:
     Decreased focal adhesion (FA)   Increased gamma-H2AX phosphory  PARP inhibitor sensitization 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Itgb1bp1):
     craniofacial  growth/size/body  mortality/aging  normal  skeleton 
     vision/eye 

    Find genes that share phenotypes with ITGB1BP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Itgb1bp1tm1Ref for ITGB1BP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITGB1BP1
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    hsa-miR-33a* hsa-miR-4307 hsa-miR-409-3p hsa-miR-1208 hsa-miR-642b
    SwitchGear 3'UTR luciferase reporter plasmidITGB1BP1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB1BP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITBP1_HUMAN, O14713: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton (By similarity). Cell membrane (By similarity).
    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: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA11919189
    GO:0005634nucleus IDA12473654
    GO:0005737cytoplasm IDA11919189
    GO:0005829cytosol IDA11919189
    GO:0005856cytoskeleton ISS--

    Find genes that share ontologies with ITGB1BP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ITGB1BP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Development Angiotensin activation of ERK
    Cell adhesion Integrin inside out signaling0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ITGB1BP1
        Cell adhesion Integrin inside-out signaling



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITGB1BP1
    Interactions:

        GeneGlobe Interaction Network for ITGB1BP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ITGB1BP1 (O147131, 2, 3 ENSP000003475044) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NME2P223921, 3, ENSP000003655724EBI-2127367,EBI-713693 I2D: score=2 STRING: ENSP00000365572
    FAF1Q9UNN52, 3, ENSP000003794574MINT-8258782 I2D: score=2 STRING: ENSP00000379457
    NME1-NME2P223921, 3EBI-2127367,EBI-713693 I2D: score=2 
    EEF1A1P681042, 3MINT-8258767 I2D: score=2 
    KRIT1O005223, ENSP000003446684I2D: score=7 STRING: ENSP00000344668
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002043blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006469negative regulation of protein kinase activity IDA--
    GO:0006933negative regulation of cell adhesion involved in substrate-bound cell migration ISS--
    GO:0007160cell-matrix adhesion IDA9281591

    Find genes that share ontologies with ITGB1BP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITGB1BP1 (ITBP1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ITGB1BP1 gene (2 alternative transcripts): 
    NM_004763.3  NM_022334.3  

    Unigene Cluster for ITGB1BP1:

    Integrin beta 1 binding protein 1
    Hs.467662  [show with all ESTs]
    Unigene Representative Sequence: AK093179
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000360635 ENST00000238091 ENST00000355346(uc002qzj.3 uc002qzk.3 uc010yiy.2 uc002qzm.3)
    ENST00000483795(uc002qzl.3) ENST00000490426 ENST00000497031 ENST00000464228
    ENST00000460720 ENST00000465527 ENST00000359712(uc002qzn.1) ENST00000488451
    ENST00000470507 ENST00000456913 ENST00000482798 ENST00000492079 ENST00000463190
    ENST00000494563 ENST00000467606
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    Additional mRNA sequence: 

    AK093179.1 AK289817.1 AK299017.1 BC012264.1 BX647099.1 CR457006.1 

    Selected DOTS entries (see all 27):

    DT.100715086  DT.318419  DT.454691  DT.95162361  DT.100824055  DT.121022248  DT.100824057  DT.100824054 
    DT.121022190  DT.91775256  DT.121022166  DT.100037672  DT.100675702  DT.100824056  DT.100824060  DT.95162360 
    DT.101962374  DT.97847693  DT.121022147  DT.121022216  DT.121022238  DT.121022273  DT.91775217  DT.95162357 

    Selected AceView cDNA sequences (see all 258):

    BU625863 AU280516 AJ705966 BM998051 AA418643 CR593803 BQ020968 BU520903 
    BM701513 BM559109 AA047376 BQ675005 BU686561 CD106087 AA353613 F28999 
    AA759141 BQ000827 BU521344 CR604571 AI625782 BE869334 BQ446973 CB160972 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITGB1BP1 (see all 18)    About this scheme

    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:                                      -     -     -     -     -     -     -     -     -     -     -     -                                               -   

    ExUns: 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d
    SP1:              -                 -                           
    SP2:              -     -           -                           
    SP3:              -     -     -     -                           
    SP4:              -                 -                           
    SP5:              -                 -                           


    ECgene alternative splicing isoforms for ITGB1BP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ITGB1BP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTCTACTT
    ITGB1BP1 Expression
    About this image

    ITGB1BP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITGB1BP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467662

    UniProtKB/Swiss-Prot: ITBP1_HUMAN, O14713
    Tissue specificity: Expressed in endothelial cells and fibroblasts (at protein level). Ubiquitously expressed.
    Expressed in intestine, colon, testis, ovary, thymus, spleen and prostate

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ITGB1BP1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb1bp11 , 5 integrin beta 1 binding protein 11, 5 84.25(n)1
    94.47(a)1
      12 (8.30 cM)5
    164131  NM_008403.41  NP_032429.11 
     212408255 
    chicken
    (Gallus gallus)
    Aves ITGB1BP11 integrin beta 1 binding protein 1 81.74(n)
    93.47(a)
      421928  NM_001278034.1  NP_001264963.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITGB1BP16
    integrin beta 1 binding protein 1
    92(a)
    1 ↔ 1
    1(148497669-148504600)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1001249691 uncharacterized LOC100124969 75.04(n)
    82.56(a)
      100124969  NM_001102904.1  NP_001096374.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itgb1bp11 integrin beta 1 binding protein 1 71.72(n)
    78.79(a)
      641420  NM_001037409.1  NP_001032486.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITGB1BP1 gene

    Find genes that share paralogs with ITGB1BP1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ITGB1BP1
    PGOHUM00000245135


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITGB1BP1 (see all 327)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3773521141,2
    C--9546325(+) AGTGT-/TGTT  
            
    GTTTG
    2 -- ut310--------
    rs285568891,2
    C,F--9546357(+) CATCTA/CGTCTT 2 -- ut312Minor allele frequency- C:0.37NA 8
    rs1131931741,2
    C--9546376(+) CTTCAA/GTGTGT 2 -- ut312Minor allele frequency- G:0.25WA NA 4
    rs285705211,2
    C,F--9546413(+) CATCTC/AGTCTT 2 -- ut311Minor allele frequency- A:0.50NA 6
    rs133920331,2
    C--9546440(+) TGTGTG/TTGTCA 2 -- ut311Minor allele frequency- T:0.50NA 2
    rs46693881,2
    C,A--9546469(+) CATCTA/CGTCTT 2 -- ut310--------
    rs50261361,2
    C--9546471(+) TCTAGG/TCTTCC 2 -- ut312Minor allele frequency- T:0.25NA 4
    rs1127064601,2
    C,F--9546488(+) CTTCAG/ATGTGT 2 -- ut312Minor allele frequency- A:0.50WA NA 4
    rs133921251,2
    C,F--9546496(+) TGTGTG/TTGTCA 2 -- ut312Minor allele frequency- T:0.50WA NA 4
    rs134271771,2
    C--9546525(+) CATCTA/CGTCTT 2 -- ut311Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for ITGB1BP1 (9543604 - 9563676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ITGB1BP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv626e201CNV Deletion23290073
    esv2478125CNV Deletion19546169
    esv2719619CNV Deletion23290073
    nsv2602CNV Loss18451855
    esv998356CNV Loss20482838
    esv28515CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGB1BP1
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGB1BP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607153    OMIM disorders: --

    2 diseases for ITGB1BP1:    
    About MalaCards
    cavernous malformation    cerebral cavernous malformation


    Find genes that share disorders with ITGB1BP1           About GenesLikeMe

    Genetic Association Database (GAD): ITGB1BP1
    Human Genome Epidemiology (HuGE) Navigator: ITGB1BP1 (1 document)

    Export disorders for ITGB1BP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ITGB1BP1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with ITGB1BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ICAP-1, a novel beta1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important NPXY sequence motif of beta1 integrin. (PubMed id 9281591)1, 2, 3, 9 Chang D.D.... Liu J. (J. Cell Biol. 1997)
    2. KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. (PubMed id 11854171)1, 2, 3, 9 Zawistowski J.S....Marchuk D.A. (Hum. Mol. Genet. 2002)
    3. Nuclear translocation of integrin cytoplasmic domain-associated protein 1 stimulates cellular proliferation. (PubMed id 15703214)1, 2, 9 Fournier H.N.... Albiges-Rizo C. (Mol. Biol. Cell 2005)
    4. The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading. (PubMed id 11807099)1, 2, 9 Degani S.... Tarone G. (J. Cell Biol. 2002)
    5. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. (PubMed id 11741838)1, 2, 9 Zhang J.... Dietz H.C. (Hum. Mol. Genet. 2001)
    6. Disruption of focal adhesions by integrin cytoplasmic domain- associated protein-1 alpha. (PubMed id 12473654)1, 2, 9 Bouvard D.... Block M.R. (J. Biol. Chem. 2003)
    7. Integrin cytoplasmic domain-associated protein-1 attenuates sprouting angiogenesis. (PubMed id 20616313)1, 2 Brutsch R.... Fischer A. (Circ. Res. 2010)
    8. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PubMed id 19124506)1, 4 Mavaddat N....Pharoah P.D. (amp 2009)
    9. Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1. (PubMed id 17916086)1, 2 Beraud-Dufour S....Faurobert E. (FEBS J. 2007)
    10. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9270 HGNC: 23927 AceView: ITGB1BP1 Ensembl:ENSG00000119185 euGenes: HUgn9270
    ECgene: ITGB1BP1 H-InvDB: ITGB1BP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITGB1BP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ITGB1BP1 gene:
    Search GeneIP for patents involving ITGB1BP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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