Esrp1 epithelial splicing regulatory protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Esrp1provided by MGI
Official Full Name: epithelial splicing regulatory protein 1provided by MGI
Primary source: MGI:MGI:1917326
See related: Ensembl:ENSMUSG00000040728 AllianceGenome:MGI:1917326
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rbm35a; A630065D16; 2210008M09Rik
Summary: Predicted to enable mRNA binding activity. Involved in regulation of RNA splicing and regulation of inner ear auditory receptor cell fate specification. Acts upstream of or within alternative mRNA splicing, via spliceosome; morphogenesis of a branching epithelium; and positive regulation of epithelial cell proliferation. Predicted to be located in nuclear body. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm. Is expressed in several structures, including alimentary system; branchial arch; embryo ectoderm; extraembryonic component; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 109. Orthologous to human ESRP1 (epithelial splicing regulatory protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in colon adult (RPKM 18.2), large intestine adult (RPKM 15.6) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 5.11 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (11331933..11386783, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (11331933..11386783, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA.
Title: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA.
Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization.
Title: Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization.
Loss of ESRP1 blocks mouse oocyte development and leads to female infertility.
Title: Loss of ESRP1 blocks mouse oocyte development and leads to female infertility.
An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates.
Title: An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates.
Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk.
Title: Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk.
the ablation of Esrp1 and Esrp2 impairs epithelial tight junction (TJ) integrity through loss of the epithelial isoform of Rho GTP exchange factor Arhgef11.
Title: Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity.
bleomycin (BLM) inhibited the expression of epithelial splicing regulatory protein 1 (ESRP1), resulting in enhanced alternative splicing of FGFR2 to the mesenchymal isoform IIIc. BLM-induced lung fibrosis was also associated with the activation of TGF-b/Smad signaling.
Title: Bleomycin-enhanced alternative splicing of fibroblast growth factor receptor 2 induces epithelial to mesenchymal transition in lung fibrosis.
Study documented the expression of Esrp1 during gonadal development and in differentiating cells of the adult gonads: in mouse fetal gonads, Esrp1 mRNA was specifically detected in germ cells of either sex and absent from somatic gonadal cells. Esrp1 mRNA was present in a gonocyte-enriched cell fraction and in all germ cells examined in postnatal testis.
Title: Esrp1 is a marker of mouse fetal germ cells and differentially expressed during spermatogenesis.
Findings reveal that Esrp1-regulated splicing in ureteric epithelial cells plays an important role in renal development. Defects in Esrp1 KO kidneys likely reflect reduced and/or absent ureteric branching, leading to decreased nephron induction secondary to incorrect Fgfr2 splicing and other splicing alterations
Title: Ablation of the epithelial-specific splicing factor Esrp1 results in ureteric branching defects and reduced nephron number.
implicate mutations in Epithelial Splicing-Regulatory Protein 1 as a cause of SNHL and demonstrate the complex interplay between alternative splicing
Title: ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rbm35a (e-PCR), detects polymorphism
- UniSTS:479027

Esrp1 (e-PCR), detects polymorphism
- UniSTS:548062

Esrp1 (e-PCR), detects polymorphism
- UniSTS:548090

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	ISO Inferred from Sequence Orthology more info
enables mRNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within alternative mRNA splicing, via spliceosome	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within branching involved in salivary gland morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of epithelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of RNA splicing	ISO Inferred from Sequence Orthology more info
involved_in regulation of RNA splicing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inner ear auditory receptor cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nuclear body	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of ribonucleoprotein complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: epithelial splicing regulatory protein 1

Names: RNA binding motif protein 35A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290383.1 → NP_001277312.1 epithelial splicing regulatory protein 1 isoform 2

See identical proteins and their annotated locations for NP_001277312.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1.

Source sequence(s)

AA647208, AK140848, CJ081693, DV648780, DV654302, DV657411

UniProtKB/Swiss-Prot

A2AJQ4, A2AJQ5, A2AJQ6, A2AJQ7, A2AJQ8, Q3TLQ3, Q3US41, Q6PCL4, Q8C9F5, Q8K0G2

UniProtKB/TrEMBL

Z4YJI3

Conserved Domains (6) summary

COG0724
Location:284 → 472

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12736
Location:220 → 304

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:309 → 417

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:443 → 523

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 145

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:633 → 671

RRM_SF; RNA recognition motif (RRM) superfamily
NM_001347052.1 → NP_001333981.1 epithelial splicing regulatory protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 3' end and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL772170

Consensus CDS

CCDS84703.1

UniProtKB/TrEMBL

Z4YJI3

Related

ENSMUSP00000103949.2, ENSMUST00000108313.8
NM_194055.3 → NP_918944.2 epithelial splicing regulatory protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA647208, AK042164, AK140848, CJ081693, DV648780, DV657411

Consensus CDS

CCDS51119.1

UniProtKB/TrEMBL

F8WGU3, Z4YJI3

Related

ENSMUSP00000103947.3, ENSMUST00000108311.9

Conserved Domains (6) summary

COG0724
Location:285 → 473

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12736
Location:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 145

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:634 → 672

RRM_SF; RNA recognition motif (RRM) superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

11331933..11386783 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537715.1 → XP_006537778.1 epithelial splicing regulatory protein 1 isoform X1

UniProtKB/TrEMBL

Z4YJI3

Related

ENSMUSP00000103946.2, ENSMUST00000108310.8

Conserved Domains (6) summary

cd12736
Location:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

pfam16072
Location:556 → 631

DUF4813; Domain of unknown function (DUF4813)

cl10012
Location:29 → 145

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:630 → 668

RRM_SF; RNA recognition motif (RRM) superfamily
XM_006537718.1 → XP_006537781.1 epithelial splicing regulatory protein 1 isoform X4

UniProtKB/TrEMBL

Z4YJI3

Conserved Domains (4) summary

cd12736
Location:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 145

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
XM_006537717.1 → XP_006537780.1 epithelial splicing regulatory protein 1 isoform X3

UniProtKB/TrEMBL

Z4YJI3

Conserved Domains (4) summary

cd12736
Location:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

cl10012
Location:29 → 145

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
XM_006537716.1 → XP_006537779.1 epithelial splicing regulatory protein 1 isoform X2

UniProtKB/TrEMBL

Z4YJI3

Related

ENSMUSP00000037921.8, ENSMUST00000043781.14

Conserved Domains (6) summary

cd12736
Location:221 → 305

RRM1_ESRP1; RNA recognition motif 1 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12739
Location:310 → 418

RRM2_ESRP1; RNA recognition motif 2 in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins

cd12742
Location:444 → 524

RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins

pfam04625
Location:541 → 632

DEC-1_N; DEC-1 protein, N-terminal region

cl10012
Location:29 → 145

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

cl17169
Location:634 → 661

RRM_SF; RNA recognition motif (RRM) superfamily