Integrins are heterodimers composed of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[5]
^Aho S, Uitto J (Feb 1998). "Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes". Biochemical and Biophysical Research Communications. 243 (3): 694–9. doi:10.1006/bbrc.1998.8162. PMID 9500991.
^Schaapveld RQ, Borradori L, Geerts D, van Leusden MR, Kuikman I, Nievers MG, Niessen CM, Steenbergen RD, Snijders PJ, Sonnenberg A (Jul 1998). "Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180". The Journal of Cell Biology. 142 (1): 271–84. doi:10.1083/jcb.142.1.271. PMC2133016. PMID 9660880.
^Biffo S, Sanvito F, Costa S, Preve L, Pignatelli R, Spinardi L, Marchisio PC (Nov 1997). "Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells". The Journal of Biological Chemistry. 272 (48): 30314–21. doi:10.1074/jbc.272.48.30314. PMID 9374518.
^Favre B, Fontao L, Koster J, Shafaatian R, Jaunin F, Saurat JH, Sonnenberg A, Borradori L (Aug 2001). "The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression". The Journal of Biological Chemistry. 276 (35): 32427–36. doi:10.1074/jbc.M011005200. PMID 11375975.
Further reading
Lipscomb EA, Mercurio AM (Sep 2005). "Mobilization and activation of a signaling competent alpha6beta4integrin underlies its contribution to carcinoma progression". Cancer and Metastasis Reviews. 24 (3): 413–23. doi:10.1007/s10555-005-5133-4. PMID 16258729. S2CID 26150860.
Sonnenberg A, Linders CJ, Modderman PW, Damsky CH, Aumailley M, Timpl R (Jun 1990). "Integrin recognition of different cell-binding fragments of laminin (P1, E3, E8) and evidence that alpha 6 beta 1 but not alpha 6 beta 4 functions as a major receptor for fragment E8". The Journal of Cell Biology. 110 (6): 2145–55. doi:10.1083/jcb.110.6.2145. PMC2116116. PMID 1693624.
Tamura RN, Rozzo C, Starr L, Chambers J, Reichardt LF, Cooper HM, Quaranta V (Oct 1990). "Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4". The Journal of Cell Biology. 111 (4): 1593–604. doi:10.1083/jcb.111.4.1593. PMC2116232. PMID 1976638.
Hogervorst F, Kuikman I, van Kessel AG, Sonnenberg A (Jul 1991). "Molecular cloning of the human alpha 6 integrin subunit. Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha 6 and beta 4 genes". European Journal of Biochemistry. 199 (2): 425–33. doi:10.1111/j.1432-1033.1991.tb16140.x. PMID 2070796.
Vogel BE, Tarone G, Giancotti FG, Gailit J, Ruoslahti E (Apr 1990). "A novel fibronectin receptor with an unexpected subunit composition (alpha v beta 1)". The Journal of Biological Chemistry. 265 (11): 5934–7. doi:10.1016/S0021-9258(19)39268-3. PMID 2138612.
Suzuki S, Naitoh Y (Mar 1990). "Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells". The EMBO Journal. 9 (3): 757–63. doi:10.1002/j.1460-2075.1990.tb08170.x. PMC551732. PMID 2311577.
Hogervorst F, Kuikman I, von dem Borne AE, Sonnenberg A (Mar 1990). "Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain". The EMBO Journal. 9 (3): 765–70. doi:10.1002/j.1460-2075.1990.tb08171.x. PMC551734. PMID 2311578.
Kajiji S, Tamura RN, Quaranta V (Mar 1989). "A novel integrin (alpha E beta 4) from human epithelial cells suggests a fourth family of integrin adhesion receptors". The EMBO Journal. 8 (3): 673–80. doi:10.1002/j.1460-2075.1989.tb03425.x. PMC400860. PMID 2542022.
Hemler ME, Crouse C, Sonnenberg A (Apr 1989). "Association of the VLA alpha 6 subunit with a novel protein. A possible alternative to the common VLA beta 1 subunit on certain cell lines". The Journal of Biological Chemistry. 264 (11): 6529–35. doi:10.1016/S0021-9258(18)83380-4. PMID 2649503.
Mainiero F, Pepe A, Wary KK, Spinardi L, Mohammadi M, Schlessinger J, Giancotti FG (Sep 1995). "Signal transduction by the alpha 6 beta 4 integrin: distinct beta 4 subunit sites mediate recruitment of Shc/Grb2 and association with the cytoskeleton of hemidesmosomes". The EMBO Journal. 14 (18): 4470–81. doi:10.1002/j.1460-2075.1995.tb00126.x. PMC394539. PMID 7556090.
Clarke AS, Lotz MM, Mercurio AM (Apr 1994). "A novel structural variant of the human beta 4 integrin cDNA". Cell Adhesion and Communication. 2 (1): 1–6. doi:10.3109/15419069409014197. PMID 7982032.
Weeks BS, Desai K, Loewenstein PM, Klotman ME, Klotman PE, Green M, Kleinman HK (Mar 1993). "Identification of a novel cell attachment domain in the HIV-1 Tat protein and its 90-kDa cell surface binding protein". The Journal of Biological Chemistry. 268 (7): 5279–84. doi:10.1016/S0021-9258(18)53530-4. PMID 8444901.
Iacovacci S, Gagnoux-Palacios L, Zambruno G, Meneguzzi G, D'Alessio M (Jun 1997). "Genomic organization of the human integrin beta4 gene". Mammalian Genome. 8 (6): 448–50. doi:10.1007/s003359900467. PMID 9166594. S2CID 41037975.
Mainiero F, Murgia C, Wary KK, Curatola AM, Pepe A, Blumemberg M, Westwick JK, Der CJ, Giancotti FG (May 1997). "The coupling of alpha6beta4 integrin to Ras-MAP kinase pathways mediated by Shc controls keratinocyte proliferation". The EMBO Journal. 16 (9): 2365–75. doi:10.1093/emboj/16.9.2365. PMC1169837. PMID 9171350.
Pulkkinen L, Kurtz K, Xu Y, Bruckner-Tuderman L, Uitto J (Jun 1997). "Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia". Laboratory Investigation. 76 (6): 823–33. PMID 9194858.
van Leusden MR, Kuikman I, Sonnenberg A (Jun 1997). "The unique cytoplasmic domain of the human integrin variant beta4E is produced by partial retention of intronic sequences". Biochemical and Biophysical Research Communications. 235 (3): 826–30. doi:10.1006/bbrc.1997.6892. PMID 9207246.
von Bredow DC, Nagle RB, Bowden GT, Cress AE (Oct 1997). "Cleavage of beta 4 integrin by matrilysin". Experimental Cell Research. 236 (1): 341–5. doi:10.1006/excr.1997.3711. PMID 9344615.
Biffo S, Sanvito F, Costa S, Preve L, Pignatelli R, Spinardi L, Marchisio PC (Nov 1997). "Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells". The Journal of Biological Chemistry. 272 (48): 30314–21. doi:10.1074/jbc.272.48.30314. PMID 9374518.
Pulkkinen L, Kim DU, Uitto J (Jan 1998). "Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)". The American Journal of Pathology. 152 (1): 157–66. PMC1858138. PMID 9422533.
Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE (Nov 2011). "Mutation altering the miR-184 seed region causes familial keratoconus with cataract". American Journal of Human Genetics. 89 (5): 628–33. doi:10.1016/j.ajhg.2011.09.014. PMC3213395. PMID 21996275.
External links
GeneReviews/NCBI/NIH/UW entry on Epidermolysis Bullosa with Pyloric Atresia
integrin, beta, integrin, beta, itgb4, also, known, cd104, cluster, differentiation, human, gene, itgb4available, structurespdbortholog, search, pdbe, rcsblist, codes1qg3, 2yrz, 3f7p, 3f7q, 3f7r, 3fq4, 3fso, 3h6a, 4q58, 4wtw, 4wtxidentifiersaliasesitgb4, cd104. Integrin beta 4 ITGB4 also known as CD104 Cluster of Differentiation 104 is a human gene 5 ITGB4Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1QG3 2YRZ 3F7P 3F7Q 3F7R 3FQ4 3FSO 3H6A 4Q58 4WTW 4WTXIdentifiersAliasesITGB4 CD104 GP150 integrin subunit beta 4 JEB5A JEB5BExternal IDsOMIM 147557 MGI 96613 HomoloGene 179 GeneCards ITGB4Gene location Human Chr Chromosome 17 human 1 Band17q25 1Start75 721 328 bp 1 End75 757 818 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 E2 11 80 91 cMStart115 865 535 bp 2 End115 899 238 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intibial nerveminor salivary glandsural nerveskin of abdomenright uterine tubebody of stomachgastric mucosaspinal gangliaspleenparotid glandTop expressed incorneal stromalipsciatic nervemolaresophaguspyloric antrumlarge intestinecolonmucous cell of stomachleft colonMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding G protein coupled receptor binding neuregulin binding insulin like growth factor I binding integrin bindingCellular componentintegral component of membrane membrane receptor complex plasma membrane hemidesmosome cell surface integrin complex cell junction cell leading edge extracellular exosome nucleus focal adhesionBiological processhemidesmosome assembly renal system development nail development cell motility extracellular matrix organization autophagy cell communication cell adhesion response to wounding mesodermal cell differentiation integrin mediated signaling pathway digestive tract development cell matrix adhesion skin development amelogenesis cell migration cell adhesion mediated by integrinSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez3691192897EnsemblENSG00000132470ENSMUSG00000020758UniProtP16144A2A863RefSeq mRNA NM 000213NM 001005619NM 001005731NM 001321123NM 001005608NM 133663RefSeq protein NP 000204NP 001005619NP 001005731NP 001308052NP 001005608NP 598424NP 001392055NP 001392056Location UCSC Chr 17 75 72 75 76 MbChr 11 115 87 115 9 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 See also 4 References 5 Further reading 6 External linksFunction EditIntegrins are heterodimers composed of alpha and beta subunits that are noncovalently associated transmembrane glycoprotein receptors Different combinations of alpha and beta polypeptides form complexes that vary in their ligand binding specificities Integrins mediate cell matrix or cell cell adhesion and transduced signals that regulate gene expression and cell growth This gene encodes the integrin beta 4 subunit a receptor for the laminins This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene 5 Interactions EditITGB4 has been shown to interact with Collagen type XVII alpha 1 6 7 EIF6 8 and Erbin 9 See also EditCluster of differentiation List of target antigens in pemphigoidReferences Edit a b c GRCh38 Ensembl release 89 ENSG00000132470 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000020758 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene ITGB4 integrin beta 4 Aho S Uitto J Feb 1998 Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 BP180 and beta 4 integrin hemidesmosomal components of basal keratinocytes Biochemical and Biophysical Research Communications 243 3 694 9 doi 10 1006 bbrc 1998 8162 PMID 9500991 Schaapveld RQ Borradori L Geerts D van Leusden MR Kuikman I Nievers MG Niessen CM Steenbergen RD Snijders PJ Sonnenberg A Jul 1998 Hemidesmosome formation is initiated by the beta4 integrin subunit requires complex formation of beta4 and HD1 plectin and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180 The Journal of Cell Biology 142 1 271 84 doi 10 1083 jcb 142 1 271 PMC 2133016 PMID 9660880 Biffo S Sanvito F Costa S Preve L Pignatelli R Spinardi L Marchisio PC Nov 1997 Isolation of a novel beta4 integrin binding protein p27 BBP highly expressed in epithelial cells The Journal of Biological Chemistry 272 48 30314 21 doi 10 1074 jbc 272 48 30314 PMID 9374518 Favre B Fontao L Koster J Shafaatian R Jaunin F Saurat JH Sonnenberg A Borradori L Aug 2001 The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression The Journal of Biological Chemistry 276 35 32427 36 doi 10 1074 jbc M011005200 PMID 11375975 Further reading EditLipscomb EA Mercurio AM Sep 2005 Mobilization and activation of a signaling competent alpha6beta4integrin underlies its contribution to carcinoma progression Cancer and Metastasis Reviews 24 3 413 23 doi 10 1007 s10555 005 5133 4 PMID 16258729 S2CID 26150860 Sonnenberg A Linders CJ Modderman PW Damsky CH Aumailley M Timpl R Jun 1990 Integrin recognition of different cell binding fragments of laminin P1 E3 E8 and evidence that alpha 6 beta 1 but not alpha 6 beta 4 functions as a major receptor for fragment E8 The Journal of Cell Biology 110 6 2145 55 doi 10 1083 jcb 110 6 2145 PMC 2116116 PMID 1693624 Tamura RN Rozzo C Starr L Chambers J Reichardt LF Cooper HM Quaranta V Oct 1990 Epithelial integrin alpha 6 beta 4 complete primary structure of alpha 6 and variant forms of beta 4 The Journal of Cell Biology 111 4 1593 604 doi 10 1083 jcb 111 4 1593 PMC 2116232 PMID 1976638 Hogervorst F Kuikman I van Kessel AG Sonnenberg A Jul 1991 Molecular cloning of the human alpha 6 integrin subunit Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha 6 and beta 4 genes European Journal of Biochemistry 199 2 425 33 doi 10 1111 j 1432 1033 1991 tb16140 x PMID 2070796 Vogel BE Tarone G Giancotti FG Gailit J Ruoslahti E Apr 1990 A novel fibronectin receptor with an unexpected subunit composition alpha v beta 1 The Journal of Biological Chemistry 265 11 5934 7 doi 10 1016 S0021 9258 19 39268 3 PMID 2138612 Suzuki S Naitoh Y Mar 1990 Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells The EMBO Journal 9 3 757 63 doi 10 1002 j 1460 2075 1990 tb08170 x PMC 551732 PMID 2311577 Hogervorst F Kuikman I von dem Borne AE Sonnenberg A Mar 1990 Cloning and sequence analysis of beta 4 cDNA an integrin subunit that contains a unique 118 kd cytoplasmic domain The EMBO Journal 9 3 765 70 doi 10 1002 j 1460 2075 1990 tb08171 x PMC 551734 PMID 2311578 Kajiji S Tamura RN Quaranta V Mar 1989 A novel integrin alpha E beta 4 from human epithelial cells suggests a fourth family of integrin adhesion receptors The EMBO Journal 8 3 673 80 doi 10 1002 j 1460 2075 1989 tb03425 x PMC 400860 PMID 2542022 Hemler ME Crouse C Sonnenberg A Apr 1989 Association of the VLA alpha 6 subunit with a novel protein A possible alternative to the common VLA beta 1 subunit on certain cell lines The Journal of Biological Chemistry 264 11 6529 35 doi 10 1016 S0021 9258 18 83380 4 PMID 2649503 Vidal F Aberdam D Miquel C Christiano AM Pulkkinen L Uitto J Ortonne JP Meneguzzi G Jun 1995 Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia Nature Genetics 10 2 229 34 doi 10 1038 ng0695 229 PMID 7545057 S2CID 24894174 Mainiero F Pepe A Wary KK Spinardi L Mohammadi M Schlessinger J Giancotti FG Sep 1995 Signal transduction by the alpha 6 beta 4 integrin distinct beta 4 subunit sites mediate recruitment of Shc Grb2 and association with the cytoskeleton of hemidesmosomes The EMBO Journal 14 18 4470 81 doi 10 1002 j 1460 2075 1995 tb00126 x PMC 394539 PMID 7556090 Clarke AS Lotz MM Mercurio AM Apr 1994 A novel structural variant of the human beta 4 integrin cDNA Cell Adhesion and Communication 2 1 1 6 doi 10 3109 15419069409014197 PMID 7982032 Weeks BS Desai K Loewenstein PM Klotman ME Klotman PE Green M Kleinman HK Mar 1993 Identification of a novel cell attachment domain in the HIV 1 Tat protein and its 90 kDa cell surface binding protein The Journal of Biological Chemistry 268 7 5279 84 doi 10 1016 S0021 9258 18 53530 4 PMID 8444901 Iacovacci S Gagnoux Palacios L Zambruno G Meneguzzi G D Alessio M Jun 1997 Genomic organization of the human integrin beta4 gene Mammalian Genome 8 6 448 50 doi 10 1007 s003359900467 PMID 9166594 S2CID 41037975 Mainiero F Murgia C Wary KK Curatola AM Pepe A Blumemberg M Westwick JK Der CJ Giancotti FG May 1997 The coupling of alpha6beta4 integrin to Ras MAP kinase pathways mediated by Shc controls keratinocyte proliferation The EMBO Journal 16 9 2365 75 doi 10 1093 emboj 16 9 2365 PMC 1169837 PMID 9171350 Pulkkinen L Kurtz K Xu Y Bruckner Tuderman L Uitto J Jun 1997 Genomic organization of the integrin beta 4 gene ITGB4 a homozygous splice site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia Laboratory Investigation 76 6 823 33 PMID 9194858 van Leusden MR Kuikman I Sonnenberg A Jun 1997 The unique cytoplasmic domain of the human integrin variant beta4E is produced by partial retention of intronic sequences Biochemical and Biophysical Research Communications 235 3 826 30 doi 10 1006 bbrc 1997 6892 PMID 9207246 von Bredow DC Nagle RB Bowden GT Cress AE Oct 1997 Cleavage of beta 4 integrin by matrilysin Experimental Cell Research 236 1 341 5 doi 10 1006 excr 1997 3711 PMID 9344615 Biffo S Sanvito F Costa S Preve L Pignatelli R Spinardi L Marchisio PC Nov 1997 Isolation of a novel beta4 integrin binding protein p27 BBP highly expressed in epithelial cells The Journal of Biological Chemistry 272 48 30314 21 doi 10 1074 jbc 272 48 30314 PMID 9374518 Pulkkinen L Kim DU Uitto J Jan 1998 Epidermolysis bullosa with pyloric atresia novel mutations in the beta4 integrin gene ITGB4 The American Journal of Pathology 152 1 157 66 PMC 1858138 PMID 9422533 Hughes AE Bradley DT Campbell M Lechner J Dash DP Simpson DA Willoughby CE Nov 2011 Mutation altering the miR 184 seed region causes familial keratoconus with cataract American Journal of Human Genetics 89 5 628 33 doi 10 1016 j ajhg 2011 09 014 PMC 3213395 PMID 21996275 External links EditGeneReviews NCBI NIH UW entry on Epidermolysis Bullosa with Pyloric Atresia ITGB4 protein human at the U S National Library of Medicine Medical Subject Headings MeSH ITGB4 Info with links in the Cell Migration Gateway Archived 2014 12 11 at the Wayback MachineThis article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title Integrin beta 4 amp 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