Biology:Integrin beta 4

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Integrin, beta 4 (ITGB4) also known as CD104 (Cluster of Differentiation 104), is a human gene.

Function

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.

Interactions

ITGB4 has been shown to interact with Collagen, type XVII, alpha 1, EIF6 and Erbin.

See also

• Cluster of differentiation
• List of target antigens in pemphigoid

Further reading

• "Mobilization and activation of a signaling competent alpha6beta4integrin underlies its contribution to carcinoma progression". Cancer and Metastasis Reviews 24 (3): 413–23. Sep 2005. doi:10.1007/s10555-005-5133-4. PMID 16258729. 
• "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. Jun 1990. doi:10.1083/jcb.110.6.2145. PMID 1693624. 
• "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. Oct 1990. doi:10.1083/jcb.111.4.1593. PMID 1976638. 
• "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. Jul 1991. doi:10.1111/j.1432-1033.1991.tb16140.x. PMID 2070796. 
• "A novel fibronectin receptor with an unexpected subunit composition (alpha v beta 1)". The Journal of Biological Chemistry 265 (11): 5934–7. Apr 1990. doi:10.1016/S0021-9258(19)39268-3. PMID 2138612. 
• "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. Mar 1990. doi:10.1002/j.1460-2075.1990.tb08170.x. PMID 2311577. 
• "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. Mar 1990. doi:10.1002/j.1460-2075.1990.tb08171.x. PMID 2311578. 
• "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. Mar 1989. doi:10.1002/j.1460-2075.1989.tb03425.x. PMID 2542022. 
• "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. Apr 1989. doi:10.1016/S0021-9258(18)83380-4. PMID 2649503. 
• "Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia". Nature Genetics 10 (2): 229–34. Jun 1995. doi:10.1038/ng0695-229. PMID 7545057. 
• "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. Sep 1995. doi:10.1002/j.1460-2075.1995.tb00126.x. PMID 7556090. 
• "A novel structural variant of the human beta 4 integrin cDNA". Cell Adhesion and Communication 2 (1): 1–6. Apr 1994. doi:10.3109/15419069409014197. PMID 7982032. 
• "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. Mar 1993. doi:10.1016/S0021-9258(18)53530-4. PMID 8444901. 
• "Genomic organization of the human integrin beta4 gene". Mammalian Genome 8 (6): 448–50. Jun 1997. doi:10.1007/s003359900467. PMID 9166594. 
• "The coupling of alpha6beta4 integrin to Ras-MAP kinase pathways mediated by Shc controls keratinocyte proliferation". The EMBO Journal 16 (9): 2365–75. May 1997. doi:10.1093/emboj/16.9.2365. PMID 9171350. 
• "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. Jun 1997. PMID 9194858. 
• "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. Jun 1997. doi:10.1006/bbrc.1997.6892. PMID 9207246. 
• "Cleavage of beta 4 integrin by matrilysin". Experimental Cell Research 236 (1): 341–5. Oct 1997. doi:10.1006/excr.1997.3711. PMID 9344615. 
• "Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells". The Journal of Biological Chemistry 272 (48): 30314–21. Nov 1997. doi:10.1074/jbc.272.48.30314. PMID 9374518. 
• "Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)". The American Journal of Pathology 152 (1): 157–66. Jan 1998. PMID 9422533. 
• "Mutation altering the miR-184 seed region causes familial keratoconus with cataract". American Journal of Human Genetics 89 (5): 628–33. Nov 2011. doi:10.1016/j.ajhg.2011.09.014. PMID 21996275. 

External links

• GeneReviews/NCBI/NIH/UW entry on Epidermolysis Bullosa with Pyloric Atresia
• ITGB4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• ITGB4 Info with links in the Cell Migration Gateway

This article incorporates text from the United States National Library of Medicine, which is in the public domain.