ESPN
entrez
83715
canonical
uniprot
B1AK53
canonical
ensembl
ENSG00000187017
resolver
ensp
ENSP00000490186
resolver
ensp
ENSP00000496593
resolver
genesymbol
ESPN
resolver
genesymbol_syn
DFNB36
resolver
hgnc
HGNC:13281
resolver
uniprot
Q6XYB2
resolver
uniprot
Q9H0A2
resolver
uniprot
Q9Y329
resolver
uniprot_entry
ESPN_HUMAN
resolver
uniprot_sec
Q6XYB2
resolver
uniprot_sec
Q9H0A2
resolver
uniprot_sec
Q9Y329
resolver
amino_acid_sequence
MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAALPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. {ECO:0000269|PubMed:15286153, ECO:0000269|PubMed:15930085, ECO:0000269|PubMed:28281779}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 91 (DFNA91) [MIM:621556]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA91 is a mild-to-severe form characterized by hearing loss without vestibular involvement. Onset ranges from the first to the fifth decades of life. {ECO:0000269|PubMed:15930085}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Usher syndrome 1M (USH1M) [MIM:618632]: A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision. {ECO:0000269|PubMed:29572253}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia (By similarity). Involved in the elongation of actin in stereocilia (PubMed:29572253). In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation. {ECO:0000250|UniProtKB:Q9ET47, ECO:0000269|PubMed:29572253}.
uniprot
proteins
mass_dalton
91733
uniprot
proteins
mutagenesis
MUTAGEN 790..795; /note="RRDLLR->KKEIIK: No effect on localization to microvilli. No effect on microvillar elongation."; /evidence="ECO:0000269|PubMed:29572253"; MUTAGEN 790..795; /note="RRDLLR->SQSTTS: Loss of targeting to microvilli. Impaired microvillar elongation."; /evidence="ECO:0000269|PubMed:29572253
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15286153
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15930085
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
28281779
uniprot
proteins
pubmed
29572253
uniprot
proteins
sequence_length
854
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9ET47}. Cell projection, stereocilium {ECO:0000269|PubMed:29572253}. Cell projection, microvillus {ECO:0000269|PubMed:29572253}.
uniprot
proteins