ESRP1

Protein identityUniProt · HPA

UniProt accession

Q6NXG1

Gene

ESRP1

Ensembl

ENSG00000104413

Chromosome

8

Canonical length

681 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

Canonical amino-acid sequenceUniProt

681 residues, UniProt reviewed canonical sequence.

>Q6NXG1|ESRP1
     1  MTASPDYLVV LFGITAGATG AKLGSDEKEL ILLFWKVVDL ANKKVGQLHE VLVRPDQLEL
    61  TEDCKEETKI DVESLSSASQ LDQALRQFNQ SVSNELNIGV GTSFCLCTDG QLHVRQILHP
   121  EASKKNVLLP ECFYSFFDLR KEFKKCCPGS PDIDKLDVAT MTEYLNFEKS SSVSRYGASQ
   181  VEDMGNIILA MISEPYNHRF SDPERVNYKF ESGTCSKMEL IDDNTVVRAR GLPWQSSDQD
   241  IARFFKGLNI AKGGAALCLN AQGRRNGEAL VRFVSEEHRD LALQRHKHHM GTRYIEVYKA
   301  TGEDFLKIAG GTSNEVAQFL SKENQVIVRM RGLPFTATAE EVVAFFGQHC PITGGKEGIL
   361  FVTYPDGRPT GDAFVLFACE EYAQNALRKH KDLLGKRYIE LFRSTAAEVQ QVLNRFSSAP
   421  LIPLPTPPII PVLPQQFVPP TNVRDCIRLR GLPYAATIED ILDFLGEFAT DIRTHGVHMV
   481  LNHQGRPSGD AFIQMKSADR AFMAAQKCHK KNMKDRYVEV FQCSAEEMNF VLMGGTLNRN
   541  GLSPPPCKLP CLSPPSYTFP APAAVIPTEA AIYQPSVILN PRALQPSTAY YPAGTQLFMN
   601  YTAYYPSPPG SPNSLGYFPT AANLSGVPPQ PGTVVRMQGL AYNTGVKEIL NFFQGYQYAT
   661  EDGLIHTNDQ ARTLPKEWVC I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESRP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

60 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESRP1.

Disease | AllUniProt

Conditions ESRP1 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 109 (DFNB109) MIM:618013

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 116 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, autosomal recessive 109

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.24

gnomAD pLI

1

gnomAD missense Z

2.27

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mRNA processing
• regulation of RNA splicing
• RNA splicing
• regulation of inner ear auditory receptor cell fate specification

Molecular functions

• mRNA binding

Cellular components

• nuclear body
• nucleoplasm
• nucleus
• ribonucleoprotein complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Ribonuclease H-like superfamily
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• Ribonuclease H superfamily
• Epithelial Splicing Regulatory
• ESRP1, RNA recognition motif 1

KeywordsUniProt

• Deafness
• Methylation
• mRNA processing
• mRNA splicing
• Non-syndromic deafness
• Nucleus
• Phosphoprotein
• Repeat
• RNA-binding

InteractionsUniProt · HPA

Protein binding partners of ESRP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATXN1
• RBPMS2