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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mRNA binding	IDA IDA: Inferred from direct assay	19285943	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of RNA splicing	IDA IDA: Inferred from direct assay	19285943	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	19285943	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

ESRP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ESRP1	Q6NXG1	KRTAP19-5	Homo sapiens	Q3LI72	Y2H Array	32296183
Intra	ESRP1	Q6NXG1	KRTAP19-5	Homo sapiens	Q3LI72	Y2H Prey Pooling	32296183
Intra	ESRP1	Q6NXG1	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	ATN1	Homo sapiens	Q86V38	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	ATN1	Homo sapiens	Q86V38	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	ATN1	Homo sapiens	Q86V38	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	RBPMS2	Homo sapiens	Q6ZRY4	Anti Tag CoIP	33961781
Intra	ESRP1	Q6NXG1	RBPMS2	Homo sapiens	Q6ZRY4	Y2H Prey Pooling	32296183
Intra	ESRP1	Q6NXG1	RBPMS2	Homo sapiens	Q6ZRY4	Validated Y2H	32296183
Intra	ESRP1	Q6NXG1	RBPMS2	Homo sapiens	Q6ZRY4	Y2H Array	32296183
Intra	ESRP1	Q6NXG1	OXER1	Homo sapiens	Q8TDS5	Y2H Prey Pooling	32296183
Intra	ESRP1	Q6NXG1	OXER1	Homo sapiens	Q8TDS5	Validated Y2H	32296183
Intra	ESRP1	Q6NXG1	OXER1	Homo sapiens	Q8TDS5	Y2H Array	32296183
Intra	ESRP1	Q6NXG1	F13A1	Homo sapiens	P00488	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	F13A1	Homo sapiens	P00488	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	F13A1	Homo sapiens	P00488	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	DCTN1	Homo sapiens	Q14203-5	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	DCTN1	Homo sapiens	Q14203-5	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	DCTN1	Homo sapiens	Q14203-5	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	q9y649_human	Homo sapiens	Q9Y649	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	q9y649_human	Homo sapiens	Q9Y649	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	q9y649_human	Homo sapiens	Q9Y649	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	VIM	Homo sapiens	P08670	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	VIM	Homo sapiens	P08670	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	VIM	Homo sapiens	P08670	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	CCT5	Homo sapiens	P48643	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	CCT5	Homo sapiens	P48643	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	CCT5	Homo sapiens	P48643	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	MED25	Homo sapiens	Q71SY5	Validated Y2H	32296183
Intra	ESRP1	Q6NXG1	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	TTR	Homo sapiens	P02766	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	TTR	Homo sapiens	P02766	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	TTR	Homo sapiens	P02766	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	PECAM1	Homo sapiens	P16284	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	ESRP1	Q6NXG1	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	ATXN1	Homo sapiens	P54253	Y2H Prey Pooling	25416956
Intra	ESRP1	Q6NXG1	ATXN1	Homo sapiens	P54253	Y2H Prey Pooling	32296183
Intra	ESRP1	Q6NXG1	ATXN1	Homo sapiens	P54253	Y2H Array	25416956
Intra	ESRP1	Q6NXG1	ATXN1	Homo sapiens	P54253	Y2H Array	32296183
Intra	ESRP1	Q6NXG1	KLHDC7B	Homo sapiens	Q96G42	Validated Y2H	32296183
Intra	ESRP1	Q6NXG1	KLHDC7B	Homo sapiens	Q96G42	Y2H Array	32296183
Intra	ESRP1	Q6NXG1	KLHDC7B	Homo sapiens	Q96G42	Y2H Prey Pooling	32296183
Intra	ESRP1	Q6NXG1	ATP1A3	Homo sapiens	P13637	Validated Y2H	32814053
Intra	ESRP1	Q6NXG1	ATP1A3	Homo sapiens	P13637	Y2H Array	32814053
Intra	ESRP1	Q6NXG1	ATP1A3	Homo sapiens	P13637	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Pre-designed Sets	/	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

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