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Aliases for ESRP1 Gene

Aliases for ESRP1 Gene

  • Epithelial Splicing Regulatory Protein 1 2 3 3 5
  • RNA-Binding Motif Protein 35A 3 4
  • RNA-Binding Protein 35A 3 4
  • RBM35A 3 4
  • RNA Binding Motif Protein 35A 2
  • 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. Among its related pathways are HIV Life Cycle and Formation of HIV-1 elongation complex containing HIV-1 Tat. 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 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.

Additional gene information for ESRP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESRP1 Gene

Genomics for ESRP1 Gene

GeneHancer (GH) Regulatory Elements for ESRP1 Gene

Promoters and enhancers for ESRP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J094638 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 656.5 -0.2 -210 5.3 HDGF PKNOX1 CLOCK NEUROD1 SIN3A ZNF2 ZBTB7B GLIS2 ELK1 ZNF207 LOC100288748 ESRP1 VIRMA INTS8 RBM12B ENSG00000253878
GH08J094718 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 +79.0 79007 2.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 DPY19L4 VIRMA INTS8 RBM12B C8orf37 ENSG00000254283 LINC01298 PSMA2P2 TMEM67 ENSG00000272509
GH08J094822 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 8 +182.6 182603 2.6 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B INTS8 TP53INP1 CCNE2 ENSG00000254307 ENSG00000253878 ESRP1 NDUFAF6 ENSG00000272509
GH08J094690 Enhancer 0.8 ENCODE 11.5 +51.4 51423 3.2 FOXA2 INSM2 SIN3A FEZF1 RFX5 ZNF213 FOS ZEB2 ZNF518A ZNF843 ESRP1 DPY19L4 RPS15AP26 GC08P094705
GH08J095098 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.8 +459.7 459734 3.9 PKNOX1 FOXA2 MLX ARID4B SIN3A ZNF766 ZNF143 FOS SP5 JUNB PLEKHF2 MIR3150BHG ESRP1 ENSG00000254248 NDUFAF6
- 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

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

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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90992.1; Type=Frameshift; Positions=512; 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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ESRP1 Gene

GenScript: Design optimal peptide antigens:

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

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

Animal Models for ESRP1 Gene

MGI Knock Outs for ESRP1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 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: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

Unigene Clusters for ESRP1 Gene

Epithelial splicing regulatory protein 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ESRP1

Expression for ESRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ESRP1 Gene:

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 34 33
  • 99.66 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESRP1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESRP1 34 33
  • 93.8 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESRP1 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESRP1 34 33
  • 92.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Esrp1 16 34 33
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Esrp1 33
  • 90.25 (n)
chicken
(Gallus gallus)
Aves ESRP1 34
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRP1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esrp1 33
  • 76.71 (n)
Str.5962 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53361 33
zebrafish
(Danio rerio)
Actinopterygii esrp1 34
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011722 33
  • 53.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta fus 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sym-2 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10873 34
  • 48 (a)
OneToMany
Cin.11821 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11821 33
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 from dbSNP and Humsavar for ESRP1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000116262 -- 94,706,095(+) C/T 3_prime_UTR_variant
rs1000129294 -- 94,672,227(+) C/T intron_variant
rs1000130134 -- 94,664,506(+) A/T intron_variant
rs1000225417 -- 94,680,484(+) A/G intron_variant
rs1000387194 -- 94,678,079(+) G/A intron_variant

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

(1) MalaCards diseases for ESRP1 Gene - From: OMIM

Disorder Aliases PubMed IDs
deafness, autosomal recessive 109
  • dfnb109
- elite association - COSMIC cancer census association via MalaCards
Search ESRP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESRP1

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

No data available for UniProtKB/Swiss-Prot and 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) 3 4 58
  2. 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 22 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for ESRP1 Gene

Sources for ESRP1 Gene

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