Gene: ITGB1

Basic information

Tag Content
Uniprot ID P05556; A8K6N2; D3DRX9; D3DRY3; D3DRY4; D3DRY5; P78466; P78467; Q13089; Q13090; Q13091; Q13212; Q14622; Q14647; Q29RW2; Q7Z3V1; Q8WUM6;
Entrez ID 3688
Genbank protein ID EAW85957.1; AAH20057.1; AAA74402.1; CAA30790.1; AAA79834.1; BAF84386.1; EAW85951.1; EAW85954.1; AAA59182.1; EAW85958.1; AAI13902.1; AAA79835.1; AAA79833.1; EAW85953.1; EAW85952.1; CAD97649.1; AAA79832.1; EAW85948.1; EAW85949.1; EAW85959.1; EAW85950.1; AAA81366.1; AAA74403.1; EAW85955.1;
Genbank nucleotide ID NM_002211.3; NM_133376.2; NM_033668.2;
Ensembl protein ID ENSP00000388694; ENSP00000303351; ENSP00000379350;
Ensembl nucleotide ID ENSG00000150093
Gene name Integrin beta-1
Gene symbol ITGB1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-4/beta-1 is a receptor for VCAM1. It recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-9/beta-1 is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. Integrin alpha-3/beta-1 is a receptor for epiligrin, thrombospondin and CSPG4. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Integrin alpha-V/beta-1 is a receptor for vitronectin. Beta-1 integrins recognize the sequence R-G-D in a wide array of ligands. Isoform 2 interferes with isoform 1 resulting in a dominant negative effect on cell adhesion and migration (in vitro). When associated with alpha-7/beta-1 integrin, regulates cell adhesion and laminin matrix deposition. Involved in promoting endothelial cell motility and angiogenesis. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process and the formation of mineralized bone nodules. May be involved in up-regulation of the activity of kinases such as PKC via binding to KRT1. Together with KRT1 and RACK1, serves as a platform for SRC activation or inactivation. Plays a mechanistic adhesive role during telophase, required for the successful completion of cytokinesis. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGA4:ITGB1 and ITGA5:ITGB1 bind to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973).
Sequence
MNLQPIFWIG LISSVCCVFA QTDENRCLKA NAKSCGECIQ AGPNCGWCTN STFLQEGMPT 60
SARCDDLEAL KKKGCPPDDI ENPRGSKDIK KNKNVTNRSK GTAEKLKPED ITQIQPQQLV 120
LRLRSGEPQT FTLKFKRAED YPIDLYYLMD LSYSMKDDLE NVKSLGTDLM NEMRRITSDF 180
RIGFGSFVEK TVMPYISTTP AKLRNPCTSE QNCTSPFSYK NVLSLTNKGE VFNELVGKQR 240
ISGNLDSPEG GFDAIMQVAV CGSLIGWRNV TRLLVFSTDA GFHFAGDGKL GGIVLPNDGQ 300
CHLENNMYTM SHYYDYPSIA HLVQKLSENN IQTIFAVTEE FQPVYKELKN LIPKSAVGTL 360
SANSSNVIQL IIDAYNSLSS EVILENGKLS EGVTISYKSY CKNGVNGTGE NGRKCSNISI 420
GDEVQFEISI TSNKCPKKDS DSFKIRPLGF TEEVEVILQY ICECECQSEG IPESPKCHEG 480
NGTFECGACR CNEGRVGRHC ECSTDEVNSE DMDAYCRKEN SSEICSNNGE CVCGQCVCRK 540
RDNTNEIYSG KFCECDNFNC DRSNGLICGG NGVCKCRVCE CNPNYTGSAC DCSLDTSTCE 600
ASNGQICNGR GICECGVCKC TDPKFQGQTC EMCQTCLGVC AEHKECVQCR AFNKGEKKDT 660
CTQECSYFNI TKVESRDKLP QPVQPDPVSH CKEKDVDDCW FYFTYSVNGN NEVMVHVVEN 720
PECPTGPDII PIVAGVVAGI VLIGLALLLI WKLLMIIHDR REFAKFEKEK MNAKWDTGEN 780
PIYKSAVTTV VNPKYEGK 798

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologITGB1102178060A0A452E668Capra hircusPredictionMore>>
1:1 orthologITGB13688P05556Homo sapiensPredictionMore>>
1:1 orthologItgb116412P09055CPOMus musculusPublicationMore>>
1:1 orthologITGB1450396A0A2J8MN19Pan troglodytesPredictionMore>>
1:1 orthologITGB1100008898A0A5F9C3C4Oryctolagus cuniculusPredictionMore>>
1:1 orthologItgb124511A0A0G2JSK5Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001618 virus receptor activityIEA
GO:0001968 fibronectin bindingIPI
GO:0001968 fibronectin bindingIBA
GO:0001968 fibronectin bindingIDA
GO:0002020 protease bindingIPI
GO:0003779 actin bindingIDA
GO:0005178 integrin bindingIBA
GO:0005515 protein bindingIPI
GO:0015026 coreceptor activityTAS
GO:0044877 protein-containing complex bindingIPI
GO:0045296 cadherin bindingHDA
GO:0046872 metal ion bindingIEA
GO:0046982 protein heterodimerization activityIDA
GO:0046982 protein heterodimerization activityTAS
GO:0050839 cell adhesion molecule bindingIPI
GO:0098639 collagen binding involved in cell-matrix adhesionIBA
GO:0098639 collagen binding involved in cell-matrix adhesionIMP
GO:1990782 protein tyrosine kinase bindingIPI
GO:0019960 C-X3-C chemokine bindingIBA
GO:0019960 C-X3-C chemokine bindingIDA
GO:0043236 laminin bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000082 G1/S transition of mitotic cell cycleIEA
GO:0000132 establishment of mitotic spindle orientationIMP
GO:0001701 in utero embryonic developmentIEA
GO:0001708 cell fate specificationIEA
GO:0002042 cell migration involved in sprouting angiogenesisIEA
GO:0006909 phagocytosisISS
GO:0006968 cellular defense responseTAS
GO:0007155 cell adhesionIDA
GO:0007156 homophilic cell adhesion via plasma membrane adhesion moleculesTAS
GO:0007159 leukocyte cell-cell adhesionIDA
GO:0007160 cell-matrix adhesionIMP
GO:0007160 cell-matrix adhesionIBA
GO:0007161 calcium-independent cell-matrix adhesionIGI
GO:0007229 integrin-mediated signaling pathwayIBA
GO:0007229 integrin-mediated signaling pathwayIMP
GO:0007229 integrin-mediated signaling pathwayIDA
GO:0008284 positive regulation of cell population proliferationIEA
GO:0008354 germ cell migrationIEA
GO:0008542 visual learningIEA
GO:0010710 regulation of collagen catabolic processIDA
GO:0010763 positive regulation of fibroblast migrationIDA
GO:0016477 cell migrationTAS
GO:0016477 cell migrationIBA
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0021943 formation of radial glial scaffoldsIEA
GO:0023035 CD40 signaling pathwayIDA
GO:0030030 cell projection organizationISS
GO:0030032 lamellipodium assemblyISS
GO:0030183 B cell differentiationIC
GO:0030198 extracellular matrix organizationTAS
GO:0030335 positive regulation of cell migrationISS
GO:0031589 cell-substrate adhesionIMP
GO:0031623 receptor internalizationISS
GO:0033627 cell adhesion mediated by integrinISS
GO:0033627 cell adhesion mediated by integrinIDA
GO:0033627 cell adhesion mediated by integrinIBA
GO:0033631 cell-cell adhesion mediated by integrinIEP
GO:0034113 heterotypic cell-cell adhesionIMP
GO:0035024 negative regulation of Rho protein signal transductionIEA
GO:0043065 positive regulation of apoptotic processIGI
GO:0043547 positive regulation of GTPase activityIMP
GO:0045214 sarcomere organizationIEA
GO:0045596 negative regulation of cell differentiationIEA
GO:0045766 positive regulation of angiogenesisIMP
GO:0046718 viral entry into host cellIEA
GO:0048333 mesodermal cell differentiationIEP
GO:0048675 axon extensionIEA
GO:0048813 dendrite morphogenesisIEA
GO:0050776 regulation of immune responseTAS
GO:0050804 modulation of chemical synaptic transmissionIEA
GO:0050900 leukocyte migrationTAS
GO:0050901 leukocyte tethering or rollingIMP
GO:0051726 regulation of cell cycleIEA
GO:0051897 positive regulation of protein kinase B signalingIDA
GO:0055007 cardiac muscle cell differentiationIEA
GO:0071404 cellular response to low-density lipoprotein particle stimulusISS
GO:0071711 basement membrane organizationIEA
GO:0090303 positive regulation of wound healingIDA
GO:1903078 positive regulation of protein localization to plasma membraneIDA
GO:2000273 positive regulation of signaling receptor activityIDA
GO:2000811 negative regulation of anoikisIMP
GO:0007179 transforming growth factor beta receptor signaling pathwayIMP
GO:0043149 stress fiber assemblyIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0001726 ruffleTAS
GO:0005623 cellIEA
GO:0005737 cytoplasmIDA
GO:0005886 plasma membraneNAS
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005925 focal adhesionIDA
GO:0005925 focal adhesionHDA
GO:0005925 focal adhesionIBA
GO:0009897 external side of plasma membraneIEA
GO:0009986 cell surfaceIDA
GO:0009986 cell surfaceHDA
GO:0014704 intercalated discIEA
GO:0016020 membraneHDA
GO:0030027 lamellipodiumIEA
GO:0030175 filopodiumIDA
GO:0031594 neuromuscular junctionIDA
GO:0032154 cleavage furrowIEA
GO:0032587 ruffle membraneNAS
GO:0032991 protein-containing complexTAS
GO:0034665 integrin alpha1-beta1 complexIDA
GO:0034666 integrin alpha2-beta1 complexIDA
GO:0034667 integrin alpha3-beta1 complexIDA
GO:0034674 integrin alpha5-beta1 complexIDA
GO:0034677 integrin alpha7-beta1 complexIEA
GO:0034678 integrin alpha8-beta1 complexTAS
GO:0034680 integrin alpha10-beta1 complexIDA
GO:0034681 integrin alpha11-beta1 complexIDA
GO:0035748 myelin sheath abaxonal regionIEA
GO:0042383 sarcolemmaIDA
GO:0042470 melanosomeIEA
GO:0043197 dendritic spineIEA
GO:0043235 receptor complexIDA
GO:0045121 membrane raftIDA
GO:0055037 recycling endosomeIEA
GO:0070062 extracellular exosomeHDA
GO:0071438 invadopodium membraneIDA
GO:0097386 glial cell projectionISS
GO:0098685 Schaffer collateral - CA1 synapseIEA
GO:0098978 glutamatergic synapseIEA
GO:0099699 integral component of synaptic membraneIEA
GO:0032587 ruffle membraneIDA
GO:0048471 perinuclear region of cytoplasmIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109582 HemostasisIEA
R-HSA-109582 HemostasisTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1280218 Adaptive Immune SystemTAS
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1500931 Cell-Cell communicationTAS
R-HSA-1566948 Elastic fibre formationTAS
R-HSA-1566977 Fibronectin matrix formationTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-168256 Immune SystemTAS
R-HSA-194315 Signaling by Rho GTPasesTAS
R-HSA-195258 RHO GTPase EffectorsTAS
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellTAS
R-HSA-202733 Cell surface interactions at the vascular wallTAS
R-HSA-210991 Basigin interactionsTAS
R-HSA-2129379 Molecules associated with elastic fibresTAS
R-HSA-216083 Integrin cell surface interactionsIEA
R-HSA-216083 Integrin cell surface interactionsTAS
R-HSA-3000157 Laminin interactionsIEA
R-HSA-3000157 Laminin interactionsTAS
R-HSA-3000170 Syndecan interactionsTAS
R-HSA-3000171 Non-integrin membrane-ECM interactionsTAS
R-HSA-3000178 ECM proteoglycansTAS
R-HSA-373755 Semaphorin interactionsIEA
R-HSA-373760 L1CAM interactionsIEA
R-HSA-373760 L1CAM interactionsTAS
R-HSA-416700 Other semaphorin interactionsIEA
R-HSA-422475 Axon guidanceIEA
R-HSA-422475 Axon guidanceTAS
R-HSA-445144 Signal transduction by L1TAS
R-HSA-446343 Localization of the PINCH-ILK-PARVIN complex to focal adhesionsTAS
R-HSA-446353 Cell-extracellular matrix interactionsTAS
R-HSA-446728 Cell junction organizationTAS
R-HSA-447041 CHL1 interactionsIEA
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-5663205 Infectious diseaseTAS
R-HSA-5663220 RHO GTPases Activate ForminsTAS
R-HSA-6785807 Interleukin-4 and Interleukin-13 signalingTAS
R-HSA-6806834 Signaling by METTAS
R-HSA-75892 Platelet Adhesion to exposed collagenIEA
R-HSA-8874081 MET activates PTK2 signalingTAS
R-HSA-8875513 MET interacts with TNS proteinsTAS
R-HSA-8875878 MET promotes cell motilityTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9609646 HCMV InfectionTAS
R-HSA-9609690 HCMV Early EventsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0025 Alternative splicing
KW-0106 Calcium
KW-0130 Cell adhesion
KW-0965 Cell junction
KW-1003 Cell membrane
KW-0966 Cell projection
KW-0903 Direct protein sequencing
KW-1015 Disulfide bond
KW-0967 Endosome
KW-0325 Glycoprotein
KW-1183 Host cell receptor for virus entry
KW-0945 Host-virus interaction
KW-0401 Integrin
KW-1017 Isopeptide bond
KW-0460 Magnesium
KW-0472 Membrane
KW-0479 Metal-binding
KW-0597 Phosphoprotein
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR013111 EGF_extracell
IPR040622 I-EGF_1
IPR027071 Integrin_beta-1
IPR033760 Integrin_beta_N
IPR015812 Integrin_bsu
IPR014836 Integrin_bsu_cyt_dom
IPR012896 Integrin_bsu_tail
IPR036349 Integrin_bsu_tail_dom_sf
IPR002369 Integrin_bsu_VWA
IPR032695 Integrin_dom_sf
IPR016201 PSI
IPR036465 vWFA_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS00022 EGF_1
PS00243 INTEGRIN_BETA

Pfam

Pfam ID Pfam Term
PF07974 EGF_2
PF18372 I-EGF_1
PF08725 Integrin_b_cyt
PF07965 Integrin_B_tail
PF00362 Integrin_beta
PF17205 PSI_integrin

Protein-protein interaction

Protein-miRNA interaction