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

Aliases for ESRP1 Gene

Aliases for ESRP1 Gene

  • Epithelial Splicing Regulatory Protein 1 2 3 4 5
  • RNA-Binding Motif Protein 35A 3 4
  • RNA-Binding Protein 35A 3 4
  • RBM35A 3 4
  • RNA Binding Motif Protein 35A 2
  • DFNB109 3
  • RMB35A 3

External Ids for ESRP1 Gene

Previous HGNC Symbols for ESRP1 Gene

  • RBM35A

Previous GeneCards Identifiers for ESRP1 Gene

  • GC08P095725
  • GC08P095653
  • GC08P090861

Summaries for ESRP1 Gene

Entrez Gene Summary for ESRP1 Gene

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

GeneCards Summary for ESRP1 Gene

ESRP1 (Epithelial Splicing Regulatory Protein 1) is a Protein Coding gene. Diseases associated with ESRP1 include Deafness, Autosomal Recessive 109 and Chromophobe Renal Cell Carcinoma. Among its related pathways are Oncogenic MAPK signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is ESRP2.

UniProtKB/Swiss-Prot Summary for ESRP1 Gene

  • 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).

Additional gene information for ESRP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ESRP1 Gene

Genomics for ESRP1 Gene

GeneHancer (GH) Regulatory Elements for ESRP1 Gene

Promoters and enhancers for ESRP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESRP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ESRP1

Top Transcription factor binding sites by QIAGEN in the ESRP1 gene promoter:
  • AML1a
  • AP-2alpha
  • ATF-2
  • C/EBPbeta
  • Cdc5
  • CP2
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • RelA

Genomic Locations for ESRP1 Gene

Genomic Locations for ESRP1 Gene
chr8:94,641,074-94,707,466
(GRCh38/hg38)
Size:
66,393 bases
Orientation:
Plus strand
chr8:95,653,302-95,719,694
(GRCh37/hg19)
Size:
66,393 bases
Orientation:
Plus strand

Genomic View for ESRP1 Gene

Genes around ESRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESRP1 Gene

Proteins for ESRP1 Gene

  • Protein details for ESRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NXG1-ESRP1_HUMAN
    Recommended name:
    Epithelial splicing regulatory protein 1
    Protein Accession:
    Q6NXG1
    Secondary Accessions:
    • A6NHA8
    • A8MPX1
    • E9PB47
    • Q2M2B0
    • Q499G3
    • Q6PJ86
    • Q9NXL8

    Protein attributes for ESRP1 Gene

    Size:
    681 amino acids
    Molecular mass:
    75585 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH19932.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA90992.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA90992.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESRP1 Gene

    Alternative splice isoforms for ESRP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESRP1 Gene

Post-translational modifications for ESRP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ESRP1 Gene

Domains & Families for ESRP1 Gene

Gene Families for ESRP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ESRP1 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESRP1 Gene

GenScript: Design optimal peptide antigens:
  • RNA-binding protein 35A (ESRP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NXG1

UniProtKB/Swiss-Prot:

ESRP1_HUMAN :
  • Belongs to the ESRP family.
Family:
  • Belongs to the ESRP family.
genes like me logo Genes that share domains with ESRP1: view

Function for ESRP1 Gene

Molecular function for ESRP1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Down-regulated during the epithelial-to-mesenchymal transition (EMT).

Phenotypes From GWAS Catalog for ESRP1 Gene

Gene Ontology (GO) - Molecular Function for ESRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IDA 19285943
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ESRP1: view
genes like me logo Genes that share phenotypes with ESRP1: view

Human Phenotype Ontology for ESRP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESRP1 Gene

MGI Knock Outs for ESRP1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ESRP1 Gene

Localization for ESRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESRP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESRP1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ESRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19285943
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ESRP1: view

Pathways & Interactions for ESRP1 Gene

genes like me logo Genes that share pathways with ESRP1: view

Pathways by source for ESRP1 Gene

Gene Ontology (GO) - Biological Process for ESRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0042669 regulation of inner ear auditory receptor cell fate specification ISS --
GO:0043484 regulation of RNA splicing IDA 19285943
genes like me logo Genes that share ontologies with ESRP1: view

No data available for SIGNOR curated interactions for ESRP1 Gene

Drugs & Compounds for ESRP1 Gene

No Compound Related Data Available

Transcripts for ESRP1 Gene

mRNA/cDNA for ESRP1 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESRP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d
SP1: -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:

Relevant External Links for ESRP1 Gene

GeneLoc Exon Structure for
ESRP1

Expression for ESRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ESRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESRP1 Gene

This gene is overexpressed in Esophagus - Mucosa (x8.4), Skin - Sun Exposed (Lower leg) (x6.4), Skin - Not Sun Exposed (Suprapubic) (x6.1), Colon - Transverse (x4.8), and Pancreas (x4.4).

Protein differential expression in normal tissues from HIPED for ESRP1 Gene

This gene is overexpressed in Cervix (29.6), Pancreas (14.5), and Lung (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ESRP1 Gene



Protein tissue co-expression partners for ESRP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ESRP1

SOURCE GeneReport for Unigene cluster for ESRP1 Gene:

Hs.487471

mRNA Expression by UniProt/SwissProt for ESRP1 Gene:

Q6NXG1-ESRP1_HUMAN
Tissue specificity: Epithelial cell-specific.

Evidence on tissue expression from TISSUES for ESRP1 Gene

  • Intestine(4.3)
  • Liver(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with ESRP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ESRP1 Gene

Orthologs for ESRP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ESRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESRP1 31 30
  • 99.66 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESRP1 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESRP1 31 30
  • 93.8 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESRP1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESRP1 31 30
  • 92.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Esrp1 17 31 30
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Esrp1 30
  • 90.25 (n)
chicken
(Gallus gallus)
Aves ESRP1 31
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRP1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esrp1 30
  • 76.71 (n)
Str.5962 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53361 30
zebrafish
(Danio rerio)
Actinopterygii esrp1 31
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011722 30
  • 53.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta fus 31
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sym-2 31
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10873 31
  • 48 (a)
OneToMany
Cin.11821 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11821 30
Species where no ortholog for ESRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ESRP1 Gene

ENSEMBL:
Gene Tree for ESRP1 (if available)
TreeFam:
Gene Tree for ESRP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESRP1: view image

Paralogs for ESRP1 Gene

Paralogs for ESRP1 Gene

(3) SIMAP similar genes for ESRP1 Gene using alignment to 5 proteins:

  • ESRP1_HUMAN
  • E5RGE9_HUMAN
  • E5RI26_HUMAN
  • H0YBB3_HUMAN
  • H0YBR2_HUMAN

Pseudogenes.org Pseudogenes for ESRP1 Gene

genes like me logo Genes that share paralogs with ESRP1: view

Variants for ESRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ESRP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
778398 Benign: not provided 94,641,946(+) A/G INTRON_VARIANT
778399 Benign: not provided 94,662,380(+) G/T INTRON_VARIANT
781917 Likely Benign: not provided 94,646,267(+) G/A MISSENSE_VARIANT
782036 Benign: not provided 94,668,229(+) C/T SYNONYMOUS_VARIANT
785258 Benign: not provided 94,646,179(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ESRP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ESRP1 Gene

Variant ID Type Subtype PubMed ID
esv3618083 CNV gain 21293372
esv3618085 CNV gain 21293372
nsv1117840 CNV deletion 24896259

Variation tolerance for ESRP1 Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESRP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESRP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESRP1 Gene

Disorders for ESRP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ESRP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 109
  • dfnb109
chromophobe renal cell carcinoma
  • chromophobe adenocarcinoma
atrial septal defect 1
  • asd1
- elite association - COSMIC cancer census association via MalaCards
Search ESRP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ESRP1_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ESRP1

genes like me logo Genes that share disorders with ESRP1: view

No data available for Genatlas for ESRP1 Gene

Publications for ESRP1 Gene

  1. ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing. (PMID: 19285943) Warzecha CC … Carstens RP (Molecular cell 2009) 2 3 4 54
  2. Epithelial splicing regulatory proteins 1 (ESRP1) and 2 (ESRP2) suppress cancer cell motility via different mechanisms. (PMID: 25143390) Ishii H … Miyazawa K (The Journal of biological chemistry 2014) 2 3 54
  3. RNA-binding motif protein 35A is a novel tumor suppressor for colorectal cancer. (PMID: 19177006) Leontieva OV … Ionov Y (Cell cycle (Georgetown, Tex.) 2009) 3 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for ESRP1 Gene

Sources for ESRP1 Gene