Entity Details

Primary name ESRP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6NXG1
EntryNameESRP1_HUMAN
FullNameEpithelial splicing regulatory protein 1
TaxID9606
Evidenceevidence at protein level
Length681
SequenceStatuscomplete
DateCreated2007-01-23
DateModified2021-06-02

Ontological Relatives

GenesESRP1

GO terms

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GOName
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0016604 nuclear body
GO:0042669 regulation of inner ear auditory receptor cell fate specification
GO:0043484 regulation of RNA splicing
GO:1990904 ribonucleoprotein complex

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000504 RNA recognition motif domainDomainDomain
IPR012337 Ribonuclease H-like superfamilyFamilyHomologous superfamily
IPR012677 Nucleotide-binding alpha-beta plait domain superfamilyFamilyHomologous superfamily
IPR034427 ESRP1, RNA recognition motif 1DomainDomain
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily
IPR036397 Ribonuclease H superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618013 OMIMDeafness, autosomal recessive, 109 (DFNB109)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

44 interactions

InteractorPartnerSourcesPublicationsLink
ESRP1_HUMANATX1_HUMANBioGRID, IntAct25416956 32296183 32814053 details
ESRP1_HUMANRBPS2_HUMANBioGRID, IntAct28514442 32296183 details
ESRP1_HUMANMED25_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANPR20D_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANDAZP2_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANKLD7B_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANARI5A_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANOXER1_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANKR195_HUMANBioGRID, IntAct32296183 details
ESRP1_HUMANAPBB2_HUMANIntAct32814053 details
ESRP1_HUMANAT1A3_HUMANIntAct32814053 details
ESRP1_HUMANCASP6_HUMANIntAct32814053 details
ESRP1_HUMANCCKN_HUMANIntAct32814053 details
ESRP1_HUMANCLAT_HUMANIntAct32814053 details
ESRP1_HUMANCRYA2_HUMANIntAct32814053 details
ESRP1_HUMANDCTN1_HUMANIntAct32814053 details
ESRP1_HUMANF13A_HUMANIntAct32814053 details
ESRP1_HUMANFGFR3_HUMANIntAct32814053 details
ESRP1_HUMANHSPB1_HUMANIntAct32814053 details
ESRP1_HUMANCH60_HUMANIntAct32814053 details
ESRP1_HUMANLAMP2_HUMANIntAct32814053 details
ESRP1_HUMANPECA1_HUMANIntAct32814053 details
ESRP1_HUMANPLD1_HUMANIntAct32814053 details
ESRP1_HUMANKLK6_HUMANIntAct32814053 details
ESRP1_HUMANSDC2_HUMANIntAct32814053 details
ESRP1_HUMANTTHY_HUMANIntAct32814053 details
ESRP1_HUMANVIME_HUMANIntAct32814053 details
ESRP1_HUMANWFS1_HUMANIntAct32814053 details
ESRP1_HUMANIDLC_HUMANIntAct32814053 details
ESRP1_HUMANBAG6_HUMANIntAct32814053 details
ESRP1_HUMANKLF11_HUMANIntAct32814053 details
ESRP1_HUMANNUP58_HUMANIntAct32814053 details
ESRP1_HUMANOPTN_HUMANIntAct32814053 details
ESRP1_HUMANTCPE_HUMANIntAct32814053 details
ESRP1_HUMANKIF1B_HUMANIntAct32814053 details
ESRP1_HUMANRNF11_HUMANIntAct32814053 details
ESRP1_HUMANUBQL1_HUMANIntAct32814053 details
ESRP1_HUMANHD_HUMANIntAct32814053 details
ESRP1_HUMANTADBP_HUMANIntAct32814053 details
ESRP1_HUMANPR20E_HUMANBioGRID32296183 details
ESRP1_HUMANPR20C_HUMANBioGRID32296183 details
ESRP1_HUMANPR20B_HUMANBioGRID32296183 details
ESRP1_HUMANPR20A_HUMANBioGRID32296183 details
ESRP1_HUMANRN111_HUMANBioGRID26522722 details