• Gene id: 51319

Gene Summary

• Gene Symbol: RSRC1   Gene   UCSC   Ensembl
• Aliases: BM-011, MRT70, SFRS21, SRrp53
• Gene name: arginine and serine rich coiled-coil 1
• Alternate names: serine/Arginine-related protein 53, arginine/serine-rich coiled-coil 1, arginine/serine-rich coiled-coil protein 1, splicing factor, arginine/serine-rich 21,
• Gene location: 3q25.32 (158110051: 158545729)     Exons: 9     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on
• OMIM: 613352

Protein Summary

• Protein general information: Q96IZ7  
  • Name: Serine/Arginine related protein 53 (SRrp53) (Arginine/serine rich coiled coil protein 1)
  • Length: 334  
  • Mass: 38677
  • Tissue specificity: Widely expressed. Expressed in brain, spinal cord, cerebellum. {ECO
• Sequence:

  MGRRSSDTEEESRSKRKKKHRRRSSSSSSSDSRTYSRKKGGRKSRSKSRSWSRDLQPRSHSYDRRRRHRSSSSSS
  YGSRRKRSRSRSRGRGKSYRVQRSRSKSRTRRSRSRPRLRSHSRSSERSSHRRTRSRSRDRERRKGRDKEKREKE
  KDKGKDKELHNIKRGESGNIKAGLEHLPPAEQAKARLQLVLEAAAKADEALKAKERNEEEAKRRKEEDQATLVEQ
  VKRVKEIEAIESDSFVQQTFRSSKEVKKSVEPSEVKQATSTSGPASAVADPPSTEKEIDPTSIPTAIKYQDDNSL
  AHPNLFIEKADAEEKWFKRLIALRQERLMGSPVA

• Structural information:
  • Interpro: IPR034604  
  • STRING: ENSP00000481697
• Other Databases: GeneCards:  RSRC1  Malacards:  RSRC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000380	alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0016607	nuclear speck	ISS	cellular component
GO:0006913	nucleocytoplasmic transport	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046677	response to antibiotic	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0006913	nucleocytoplasmic transport	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000380	alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq