Espin (protein)
ESPN | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ESPN, DFNB36, LP2654, Espin, USH1M | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606351; MGI: 1861630; HomoloGene: 23164; GeneCards: ESPN; OMA:ESPN - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene.[5] Espin is a microfilament binding protein.
Function
Espin is a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells.[5]
Clinical significance
Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000187017 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028943 – 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 c "Entrez Gene: espin".
Further reading
- Naz S; Griffith AJ; Riazuddin S; et al. (2004). "Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction". J. Med. Genet. 41 (8): 591–5. doi:10.1136/jmg.2004.018523. PMC 1735855. PMID 15286153.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Boulouiz R; Li Y; Soualhine H; et al. (2008). "A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family". Am. J. Med. Genet. A. 146A (23): 3086–9. doi:10.1002/ajmg.a.32525. PMID 18973245.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Cosetti M; Culang D; Kotla S; et al. (2008). "Unique transgenic animal model for hereditary hearing loss". Ann. Otol. Rhinol. Laryngol. 117 (11): 827–33. doi:10.1177/000348940811701106. PMC 3409696. PMID 19102128.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Hosgood HD; Zhang L; Shen M; et al. (2009). "Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity". Occup Environ Med. 66 (12): 848–53. doi:10.1136/oem.2008.044024. PMC 2928224. PMID 19773279.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Donaudy F; Zheng L; Ficarella R; et al. (2006). "Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation". J. Med. Genet. 43 (2): 157–61. doi:10.1136/jmg.2005.032086. PMC 2564636. PMID 15930085.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Bartles JR; Zheng L; Li A; et al. (1998). "Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli". J. Cell Biol. 143 (1): 107–19. doi:10.1083/jcb.143.1.107. PMC 2132824. PMID 9763424.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Sekerková G; Loomis PA; Changyaleket B; et al. (2003). "Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53". J. Neurosci. 23 (4): 1310–9. PMC 2854510. PMID 12598619.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Bartles JR, Wierda A, Zheng L (1996). "Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations". J. Cell Sci. 109 (6): 1229–39. PMID 8799813.
- Wiemann S; Weil B; Wellenreuther R; et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Loomis PA; Kelly AE; Zheng L; et al. (2006). "Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells". J. Cell Sci. 119 (Pt 8): 1655–65. doi:10.1242/jcs.02869. PMC 2854011. PMID 16569662.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Gregory SG; Barlow KF; McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Zheng L; Sekerková G; Vranich K; et al. (2000). "The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins". Cell. 102 (3): 377–85. doi:10.1016/S0092-8674(00)00042-8. PMC 2850054. PMID 10975527.
{{cite journal}}
: Unknown parameter|name-list-format=
ignored (|name-list-style=
suggested) (help) - Wan D; Gong Y; Qin W; et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
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External links
- espin+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.