Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ITGB1BP1 (integrin subunit beta 1 binding protein 1)

Identity

Alias_namesintegrin beta 1 binding protein 1
Alias_symbol (synonym)ICAP-1A
ICAP-1B
ICAP1
ICAP1A
ICAP1B
ICAP-1alpha
Other alias
HGNC (Hugo) ITGB1BP1
LocusID (NCBI) 9270
Atlas_Id 47086
Location 2p25.1  [Link to chromosome band 2p25]
Location_base_pair Starts at 9405681 and ends at 9423569 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CARMN (5q32) / ITGB1BP1 (2p25.1)ITGB1BP1 (2p25.1) / CPSF3 (2p25.1)PIBF1 (13q22.1) / ITGB1BP1 (2p25.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ITGB1BP1   23927
Cards
Entrez_Gene (NCBI)ITGB1BP1  9270  integrin subunit beta 1 binding protein 1
AliasesICAP-1A; ICAP-1B; ICAP-1alpha; ICAP1; 
ICAP1A; ICAP1B
GeneCards (Weizmann)ITGB1BP1
Ensembl hg19 (Hinxton)ENSG00000119185 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119185 [Gene_View]  ENSG00000119185 [Sequence]  chr2:9405681-9423569 [Contig_View]  ITGB1BP1 [Vega]
ICGC DataPortalENSG00000119185
TCGA cBioPortalITGB1BP1
AceView (NCBI)ITGB1BP1
Genatlas (Paris)ITGB1BP1
WikiGenes9270
SOURCE (Princeton)ITGB1BP1
Genetics Home Reference (NIH)ITGB1BP1
Genomic and cartography
GoldenPath hg38 (UCSC)ITGB1BP1  -     chr2:9405681-9423569 -  2p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITGB1BP1  -     2p25.1   [Description]    (hg19-Feb_2009)
EnsemblITGB1BP1 - 2p25.1 [CytoView hg19]  ITGB1BP1 - 2p25.1 [CytoView hg38]
Mapping of homologs : NCBIITGB1BP1 [Mapview hg19]  ITGB1BP1 [Mapview hg38]
OMIM607153   
Gene and transcription
Genbank (Entrez)AF012023 AF012024 AI144519 AI336197 AK092115
RefSeq transcript (Entrez)NM_001319066 NM_001319067 NM_001319068 NM_001319069 NM_001319070 NM_004763 NM_022334
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITGB1BP1
Cluster EST : UnigeneHs.467662 [ NCBI ]
CGAP (NCI)Hs.467662
Alternative Splicing GalleryENSG00000119185
Gene ExpressionITGB1BP1 [ NCBI-GEO ]   ITGB1BP1 [ EBI - ARRAY_EXPRESS ]   ITGB1BP1 [ SEEK ]   ITGB1BP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITGB1BP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9270
GTEX Portal (Tissue expression)ITGB1BP1
Human Protein AtlasENSG00000119185-ITGB1BP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14713   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14713  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14713
Splice isoforms : SwissVarO14713
PhosPhoSitePlusO14713
Domains : Interpro (EBI)Integrin-bd_ICAP-1    PH_dom-like    PTB/PI_dom   
Domain families : Pfam (Sanger)ICAP-1_inte_bdg (PF10480)   
Domain families : Pfam (NCBI)pfam10480   
Domain families : Smart (EMBL)PTB (SM00462)  
Conserved Domain (NCBI)ITGB1BP1
DMDM Disease mutations9270
Blocks (Seattle)ITGB1BP1
PDB (SRS)1K11    4DX8    4DX9    4JIF   
PDB (PDBSum)1K11    4DX8    4DX9    4JIF   
PDB (IMB)1K11    4DX8    4DX9    4JIF   
PDB (RSDB)1K11    4DX8    4DX9    4JIF   
Structural Biology KnowledgeBase1K11    4DX8    4DX9    4JIF   
SCOP (Structural Classification of Proteins)1K11    4DX8    4DX9    4JIF   
CATH (Classification of proteins structures)1K11    4DX8    4DX9    4JIF   
SuperfamilyO14713
Human Protein Atlas [tissue]ENSG00000119185-ITGB1BP1 [tissue]
Peptide AtlasO14713
HPRD06194
IPIIPI00006265   IPI00219566   IPI00853543   IPI00946681   IPI00945639   IPI00946203   IPI00946112   IPI00945800   IPI00946043   IPI00945612   IPI00981345   
Protein Interaction databases
DIP (DOE-UCLA)O14713
IntAct (EBI)O14713
FunCoupENSG00000119185
BioGRIDITGB1BP1
STRING (EMBL)ITGB1BP1
ZODIACITGB1BP1
Ontologies - Pathways
QuickGOO14713
Ontology : AmiGOruffle  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  GDP-dissociation inhibitor activity  integrin binding  integrin binding  protein binding  nucleus  nucleoplasm  cytoplasm  microtubule organizing center  cytosol  cytoskeleton  plasma membrane  focal adhesion  transcription, DNA-templated  negative regulation of protein kinase activity  negative regulation of cell adhesion involved in substrate-bound cell migration  cell-matrix adhesion  Notch signaling pathway  integrin-mediated signaling pathway  positive regulation of cell proliferation  negative regulation of cell proliferation  protein transporter activity  positive regulation of endothelial cell migration  negative regulation of fibroblast migration  protein transport  membrane  cell migration  nuclear body  protein kinase binding  lamellipodium  cell differentiation  biomineral tissue development  negative regulation of protein binding  activation of protein kinase B activity  protein complex binding  integrin activation  regulation of cell adhesion mediated by integrin  tube formation  intracellular signal transduction  cellular response to vascular endothelial growth factor stimulus  regulation of GTPase activity  receptor clustering  cellular response to fibroblast growth factor stimulus  positive regulation of Notch signaling pathway  positive regulation of transcription by RNA polymerase II  perinuclear region of cytoplasm  regulation of blood vessel size  myoblast migration  positive regulation of stress fiber assembly  positive regulation of cell division  positive regulation of focal adhesion assembly  negative regulation of focal adhesion assembly  positive regulation of protein kinase B signaling  extracellular exosome  negative regulation of ERK1 and ERK2 cascade  cell periphery  negative regulation of cell migration involved in sprouting angiogenesis  positive regulation of protein targeting to membrane  negative regulation of protein targeting to membrane  negative regulation of substrate adhesion-dependent cell spreading  regulation of integrin-mediated signaling pathway  
Ontology : EGO-EBIruffle  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  GDP-dissociation inhibitor activity  integrin binding  integrin binding  protein binding  nucleus  nucleoplasm  cytoplasm  microtubule organizing center  cytosol  cytoskeleton  plasma membrane  focal adhesion  transcription, DNA-templated  negative regulation of protein kinase activity  negative regulation of cell adhesion involved in substrate-bound cell migration  cell-matrix adhesion  Notch signaling pathway  integrin-mediated signaling pathway  positive regulation of cell proliferation  negative regulation of cell proliferation  protein transporter activity  positive regulation of endothelial cell migration  negative regulation of fibroblast migration  protein transport  membrane  cell migration  nuclear body  protein kinase binding  lamellipodium  cell differentiation  biomineral tissue development  negative regulation of protein binding  activation of protein kinase B activity  protein complex binding  integrin activation  regulation of cell adhesion mediated by integrin  tube formation  intracellular signal transduction  cellular response to vascular endothelial growth factor stimulus  regulation of GTPase activity  receptor clustering  cellular response to fibroblast growth factor stimulus  positive regulation of Notch signaling pathway  positive regulation of transcription by RNA polymerase II  perinuclear region of cytoplasm  regulation of blood vessel size  myoblast migration  positive regulation of stress fiber assembly  positive regulation of cell division  positive regulation of focal adhesion assembly  negative regulation of focal adhesion assembly  positive regulation of protein kinase B signaling  extracellular exosome  negative regulation of ERK1 and ERK2 cascade  cell periphery  negative regulation of cell migration involved in sprouting angiogenesis  positive regulation of protein targeting to membrane  negative regulation of protein targeting to membrane  negative regulation of substrate adhesion-dependent cell spreading  regulation of integrin-mediated signaling pathway  
NDEx NetworkITGB1BP1
Atlas of Cancer Signalling NetworkITGB1BP1
Wikipedia pathwaysITGB1BP1
Orthology - Evolution
OrthoDB9270
GeneTree (enSembl)ENSG00000119185
Phylogenetic Trees/Animal Genes : TreeFamITGB1BP1
HOVERGENO14713
HOGENOMO14713
Homologs : HomoloGeneITGB1BP1
Homology/Alignments : Family Browser (UCSC)ITGB1BP1
Gene fusions - Rearrangements
Fusion : QuiverITGB1BP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITGB1BP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITGB1BP1
dbVarITGB1BP1
ClinVarITGB1BP1
1000_GenomesITGB1BP1 
Exome Variant ServerITGB1BP1
ExAC (Exome Aggregation Consortium)ENSG00000119185
GNOMAD BrowserENSG00000119185
Genetic variants : HAPMAP9270
Genomic Variants (DGV)ITGB1BP1 [DGVbeta]
DECIPHERITGB1BP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITGB1BP1 
Mutations
ICGC Data PortalITGB1BP1 
TCGA Data PortalITGB1BP1 
Broad Tumor PortalITGB1BP1
OASIS PortalITGB1BP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITGB1BP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITGB1BP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ITGB1BP1
DgiDB (Drug Gene Interaction Database)ITGB1BP1
DoCM (Curated mutations)ITGB1BP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITGB1BP1 (select a term)
intoGenITGB1BP1
Cancer3DITGB1BP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607153   
Orphanet
DisGeNETITGB1BP1
MedgenITGB1BP1
Genetic Testing Registry ITGB1BP1
NextProtO14713 [Medical]
TSGene9270
GENETestsITGB1BP1
Target ValidationITGB1BP1
Huge Navigator ITGB1BP1 [HugePedia]
snp3D : Map Gene to Disease9270
BioCentury BCIQITGB1BP1
ClinGenITGB1BP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9270
Chemical/Pharm GKB GenePA134913590
Clinical trialITGB1BP1
Miscellaneous
canSAR (ICR)ITGB1BP1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITGB1BP1
EVEXITGB1BP1
GoPubMedITGB1BP1
iHOPITGB1BP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:31:23 CEST 2018

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