ESRP1 - epithelial splicing regulatory protein 1 Gene

Homo sapiens

Also known as RBM35A; RMB35A; DFNB109

Gene ID: 54845 | Gene type: protein coding

About ESRP1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:94,641,174-94,707,466 (from NCBI)

This gene has 12 transcripts (splice variants), 208 orthologues, 8 paralogues and is associated with 1 phenotype. Broad expression in esophagus (RPKM 33.0), skin (RPKM 32.6) and 15 other tissues.

Summary

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

ESRP1 Products(5)

mRNA	Protein	Name
NM_001034915.3	NP_001030087.2	epithelial splicing regulatory protein 1 isoform 2
NM_001122825.2	NP_001116297.1	epithelial splicing regulatory protein 1 isoform 4
NM_001122826.2	NP_001116298.1	epithelial splicing regulatory protein 1 isoform 3
NM_001122827.2	NP_001116299.1	epithelial splicing regulatory protein 1 isoform 5
NM_017697.4	NP_060167.2	epithelial splicing regulatory protein 1 isoform 1

ESRP1 Protein Structure

0
200
400
600
681 a.a.

Protein Preferred Names

Protein Names

epithelial splicing regulatory protein 1

RNA-binding motif protein 35A

Recombinant ESRP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77362	ESRP1/RBM35A Protein, Human (sf9, His)	Q6NXG1 (M1-I681)	≥95%

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 109

DFNB109	Autosomal Recessive Nonsyndromic Deafness 109
Autosomal Recessive Deafness 109	Deafness, Autosomal Recessive, 109

Uterine Corpus Endometrial Carcinoma

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04535	ESRP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ESRP1	VGNC	VGNC:28606
Macaca mulatta	ESRP1	VGNC	VGNC:72358
Mus musculus	ESRP1	MGD	MGI:1917326
Canis familiaris	ESRP1	VGNC	VGNC:40478
Felis catus	ESRP1	VGNC	VGNC:61965
Rattus norvegicus	ESRP1	RGD	RGD:1560481
Others	ESRP1	NCBI

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