FertilityOnline | Spermatogenes

Detail Information of SG037960

SG ID

SG037960

Gene Name

Esrp1

Gene Synonyms/Alias

2210008M09Rik, A630065D16, BC031468, Rbm35a

Organism

Mus musculus

NCBI Taxonomy ID

10090

Ensembl Gene ID

Ensembl Protein ID

Description

epithelial splicing regulatory protein 1 [Mus musculus (house mouse)]

Orthology

Status

Reviewed functional gene

Function in Stage	meiotic postmeiotic premeiotic
Function in Cell Type	Sertoli cell Spermatid Spermatocyte
The information of related literature
Figures for illustrating the function of this protein/gene	PMID: [29324788] PMID: [29324788] PMID: [29324788]
Functional description	epithelial splicing regulatory proteins 1 ESRP1 previously, known as RNA binding motif proteins 35A (RBM35A) Expression is highly cell type specific, but up-regulation of this genes was generally observed in epithelial cell types.ESRP1knockdown of Esrp1 expression in the seminoma-derived Tcam-2 cell line demonstrated that ESRP1 regulates alternative splicing of mRNAs in a non-epithelial cell germ cell tumour cell line
Protein complex
Pathway	ReactomeID: R-MMU-6803529 FGFR2 alternative splicing
Human diseases
OMIM
Spermatogenesis failure

Tissue specificity (in Homo sapiens)	Expressed highest in skin
Testicular Cell specificity (in Mus musculus)	Expressed highest in sperm
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Nucleus

Variants founded in public databases

1000G (Phase 3): 2000 ESP6500 (SI-V2): 108 ExAC (r0.3.1): 597 dbSNP(Build 147): 4337

Variants founded in in-house datasets

Chinese health control (254): 14 European health control (283): 9 Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
ESRP1	0.000028115	0.0000287569

Protein-Protein interaction information

Protein family and Domain