Espin_(protein) Knowpia

ESPN
Identifiers
Aliases	ESPN, DFNB36, LP2654, Espin, USH1M
External IDs	OMIM: 606351 MGI: 1861630 HomoloGene: 23164 GeneCards: ESPN
Gene location (Human)
Chr.	Chromosome 1 (human)
End	6,461,367 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	152,236,828 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; right lobe of liver; ; skin of abdomen; ; kidney; ; anterior pituitary; ; jejunal mucosa; ; duodenum; ; sural nerve; ; corpus epididymis; ; sperm;
	Top expressed in
	interventricular septum; ; intestinal villus; ; yolk sac; ; ileum; ; duodenum; ; jejunum; ; saccule; ; crypt of lieberkuhn of small intestine; ; colon; ; proximal tubule;
	More reference expression data
	n/a
Gene ontology
Molecular function	SH3 domain binding; actin binding; actin filament binding;
Cellular component	microvillus; cell projection; cytoskeleton; stereocilium; cytoplasm; filamentous actin; brush border; stereocilium tip; actin cytoskeleton; stereocilium bundle;
Biological process	sensory perception of sound; actin filament bundle assembly; locomotory behavior; parallel actin filament bundle assembly; positive regulation of filopodium assembly; negative regulation of cytoskeleton organization;
	Sources:Amigo / QuickGO
Orthologs
	83715
	56226
	ENSG00000187017
	ENSMUSG00000028943
	Q5JYL1
	Q9ET47
	NM_031475; NM_001367473; NM_001367474
NM_019585; NM_207687; NM_207688; NM_207689; NM_207690;
	NM_207691
	NP_113663; NP_001354402; NP_001354403
NP_062531; NP_997570; NP_997571; NP_997572; NP_997573;
	NP_997574
	Wikidata
View/Edit Human	View/Edit Mouse

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 edit

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 edit

Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.^[5]

References edit

^ ^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 edit

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.
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. S2CID 33443367.
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.
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.
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.
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.
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. doi:10.1523/JNEUROSCI.23-04-01310.2003. PMC 2854510. PMID 12598619.
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. doi:10.1242/jcs.109.6.1229. 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.
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.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
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.
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. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.