U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ESRP1 epithelial splicing regulatory protein 1 [ Homo sapiens (human) ]

Gene ID: 54845, updated on 3-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
ESRP1provided by HGNC
Official Full Name
epithelial splicing regulatory protein 1provided by HGNC
Primary source
HGNC:HGNC:25966
See related
Ensembl:ENSG00000104413 MIM:612959; AllianceGenome:HGNC:25966
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RBM35A; RMB35A; DFNB109
Summary
ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
Expression
Broad expression in esophagus (RPKM 33.0), skin (RPKM 32.6) and 15 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ESRP1 in Genome Data Viewer
Location:
8q22.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94641174..94707466)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95766111..95832462)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95653402..95719694)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene Neighboring gene VIRMA divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27633 Neighboring gene long intergenic non-protein coding RNA 2894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27634 Neighboring gene ribosomal protein S15a pseudogene 26 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:95731221-95732175 Neighboring gene dpy-19 like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27635 Neighboring gene integrator complex subunit 8 Neighboring gene cyclin E2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. ESRP1 as a prognostic factor of non-small-cell lung cancer is related to the EMT transcription factor of Twist. Cui J, et al. Thorac Cancer, 2021 Sep. PMID 34342121, Free PMC Article
  2. Emerging Multi-cancer Regulatory Role of ESRP1: Orchestration of Alternative Splicing to Control EMT. Vadlamudi Y, et al. Curr Cancer Drug Targets, 2020. PMID 32564755
  3. Expression of ESRP1 at human fetomaternal interface and involvement in trophoblast migration and invasion. Jia J, et al. Placenta, 2020 Jan 15. PMID 32056547
  4. Proteomics-Based Evidence for a Pro-Oncogenic Role of ESRP1 in Human Colorectal Cancer Cells. Ala U, et al. Int J Mol Sci, 2020 Jan 16. PMID 31963158, Free PMC Article
  5. Mining Database for the Clinical Significance and Prognostic Value of ESRP1 in Cutaneous Malignant Melanoma. Wang B, et al. Biomed Res Int, 2020. PMID 32964032, Free PMC Article

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Potential impact of epithelial splicing regulatory protein 1 (ESRP1) associated with tumor immunity in pancreatic adenocarcinoma.
    Title: Potential impact of epithelial splicing regulatory protein 1 (ESRP1) associated with tumor immunity in pancreatic adenocarcinoma.
  2. Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
    Title: Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
  3. ESRP1 controls biogenesis and function of a large abundant multiexon circRNA.
    Title: ESRP1 controls biogenesis and function of a large abundant multiexon circRNA.
  4. 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.
  5. The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.
    Title: The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.
  6. Overexpression of Epithelial Splicing Regulatory Protein 1 in Metastatic Lesions of Serous Ovarian Carcinoma Correlates with Poor Patient Prognosis.
    Title: Overexpression of Epithelial Splicing Regulatory Protein 1 in Metastatic Lesions of Serous Ovarian Carcinoma Correlates with Poor Patient Prognosis.
  7. Silencing ESRP1 expression promotes caspase-independent cell death via nuclear translocation of AIF in colon cancer cells.
    Title: Silencing ESRP1 expression promotes caspase-independent cell death via nuclear translocation of AIF in colon cancer cells.
  8. MiR-337-3p suppresses migration and invasion of breast cancer cells by downregulating ESRP1.
    Title: MiR-337-3p suppresses migration and invasion of breast cancer cells by downregulating ESRP1.
  9. ESRP1 as a prognostic factor of non-small-cell lung cancer is related to the EMT transcription factor of Twist.
    Title: ESRP1 as a prognostic factor of non-small-cell lung cancer is related to the EMT transcription factor of Twist.
  10. Epithelial Splicing Regulatory Protein 1 Is Overexpressed in Breast Cancer and Predicts Poor Prognosis for Breast Cancer Patients.
    Title: Epithelial Splicing Regulatory Protein 1 Is Overexpressed in Breast Cancer and Predicts Poor Prognosis for Breast Cancer Patients.
Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hearing loss, autosomal recessive 109
MedGen: C4693935 OMIM: 618013 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ20171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of RNA splicing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of inner ear auditory receptor cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
epithelial splicing regulatory protein 1
Names
RNA-binding motif protein 35A
RNA-binding protein 35A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_001034915.3 → NP_001030087.2  epithelial splicing regulatory protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001030087.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' coding region, compared to variant 1, that results in a shorter protein (isoform 2) when compared to isoform 1.
    Source sequence(s)
    AI990751, BC052574, BC099916, BG182742, BG212336, BX647570
    Consensus CDS
    CCDS47898.1
    UniProtKB/Swiss-Prot
    Q6NXG1
    Related
    ENSP00000351168.5, ENST00000358397.9
    Conserved Domains (5) summary
    cd12736
    Location:216 → 308
    RRM1_ESRP1; RNA recognition motif 1 (RRM1) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
    cd12739
    Location:310 → 419
    RRM2_ESRP1; RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
    cd12742
    Location:444 → 524
    RRM3_ESRP1_ESRP2; RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
    cl10012
    Location:29 → 168
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    cl17169
    Location:629 → 668
    RRM_SF; RNA recognition motif (RRM) superfamily

  2. NM_001122825.2 → NP_001116297.1  epithelial splicing regulatory protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001116297.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks multiple exons in the 3' coding region, compared to variant 1, which results in a protein (isoform 4) with a shorter, distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AI990751, BC019932, BC052574, BG182742, BG212336, BX647570
    Consensus CDS
    CCDS47896.1
    UniProtKB/Swiss-Prot
    Q6NXG1
    Related
    ENSP00000494213.1, ENST00000646773.1
    Conserved Domains (4) summary
    cd12736
    Location:216 → 308
    RRM1_ESRP1; RNA recognition motif 1 (RRM1) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
    cd12739
    Location:310 → 419
    RRM2_ESRP1; RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins
    cd12742
    Location:444 → 524
    RRM3_ESRP1_ESRP2; RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
    cl10012
    Location:29 → 168
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  3. NM_001122826.2 → NP_001116298.1  epithelial splicing regulatory protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001116298.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 3' coding region, compared to variant 1, one of which results in a protein (isoform 3) with a shorter, distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AI990751, BC052574, BC099916, BG182742, BG212336, BX647570
    Consensus CDS
    CCDS47895.1
    UniProtKB/Swiss-Prot
    Q6NXG1
    Related
    ENSP00000407349.2, ENST00000423620.6
    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
    pfam12868
    Location:577 → 638
    DUF3824; Domain of unknwon function (DUF3824)
    cl10012
    Location:29 → 168
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    cl17169
    Location:630 → 657
    RRM_SF; RNA recognition motif (RRM) superfamily

  4. NM_001122827.2 → NP_001116299.1  epithelial splicing regulatory protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001116299.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences in the 3' coding region, compared to variant 1, one of which results in a protein (isoform 5) with a shorter, distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AI990751, BC052574, BC067098, BG182742, BX647570
    Consensus CDS
    CCDS87620.1
    UniProtKB/TrEMBL
    A0A2U3TZN9
    Related
    ENSP00000402766.3, ENST00000454170.7
    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 → 168
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  5. NM_017697.4 → NP_060167.2  epithelial splicing regulatory protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060167.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI990751, BC052574, BC067098, BG182742, BX647570
    Consensus CDS
    CCDS47897.1
    UniProtKB/Swiss-Prot
    A6NHA8, A8MPX1, E9PB47, Q2M2B0, Q499G3, Q6NXG1, Q6PJ86, Q9NXL8
    Related
    ENSP00000405738.2, ENST00000433389.8
    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:537 → 635
    DUF4813; Domain of unknown function (DUF4813)
    cl10012
    Location:29 → 168
    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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    94641174..94707466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250991.4 → XP_005251048.1  epithelial splicing regulatory protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005251048.1

    UniProtKB/Swiss-Prot
    Q6NXG1
    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:537 → 635
    DUF4813; Domain of unknown function (DUF4813)
    cl10012
    Location:29 → 168
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    cl17169
    Location:634 → 661
    RRM_SF; RNA recognition motif (RRM) superfamily

  2. XM_047421916.1 → XP_047277872.1  epithelial splicing regulatory protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    95766111..95832462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360730.1 → XP_054216705.1  epithelial splicing regulatory protein 1 isoform X1

  2. XM_054360731.1 → XP_054216706.1  epithelial splicing regulatory protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NXG1.2 GenPept UniProtKB/Swiss-Prot:Q6NXG1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous