ESRP1
entrez
54845
canonical
uniprot
Q6NXG1
canonical
ensembl
ENSG00000104413
resolver
ensp
ENSP00000351168
resolver
ensp
ENSP00000402766
resolver
ensp
ENSP00000405738
resolver
ensp
ENSP00000407349
resolver
ensp
ENSP00000494213
resolver
ensp
ENSP00000729538
resolver
ensp
ENSP00000782631
resolver
enst
ENST00000454170
resolver
genesymbol
ESRP1
resolver
genesymbol_syn
RBM35A
resolver
hgnc
HGNC:25966
resolver
uniprot
A0A2U3TZN9
resolver
uniprot
A6NHA8
resolver
uniprot
A8MPX1
resolver
uniprot
E9PB47
resolver
uniprot
Q2M2B0
resolver
uniprot
Q499G3
resolver
uniprot
Q6PJ86
resolver
uniprot
Q9NXL8
resolver
uniprot_entry
A0A2U3TZN9_HUMAN
resolver
uniprot_entry
ESRP1_HUMAN
resolver
uniprot_sec
A6NHA8
resolver
uniprot_sec
A8MPX1
resolver
uniprot_sec
E9PB47
resolver
uniprot_sec
Q2M2B0
resolver
uniprot_sec
Q499G3
resolver
uniprot_sec
Q6PJ86
resolver
uniprot_sec
Q9NXL8
resolver
amino_acid_sequence
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFCLCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAPLIPLPTPPIIPVLPQQFVPPTNVRDCIRLRGLPYAATIEDILDFLGEFATDIRTHGVHMVLNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSAEEMNFVLMGGTLNRNGLSPPPCKLPCLSPPSYTFPAPAAVIPTEAAIYQPSVILNPRALQPSTAYYPAGTQLFMNYTAYYPSPPGSPNSLGYFPTAANLSGVPPQPGTVVRMQGLAYNTGVKEILNFFQGYQYATEDGLIHTNDQARTLPKEWVCI
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 109 (DFNB109) [MIM:618013]: A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound 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. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. {ECO:0000269|PubMed:29107558}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity). {ECO:0000250|UniProtKB:Q3US41, ECO:0000269|PubMed:19285943}.
uniprot
proteins
mass_dalton
75585
uniprot
proteins
protein_family
ESRP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19285943
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
29107558
uniprot
proteins
sequence_length
681
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19285943}.
uniprot
proteins