Gene Gene information from NCBI Gene database.
Entrez ID 51319
Gene name Arginine and serine rich coiled-coil 1
Gene symbol RSRC1
Synonyms (NCBI Gene)
BM-011MRT70SFRS21SRrp53
Chromosome 3
Chromosome location 3q25.32
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs868818936 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1183090232 C>G,T Pathogenic Coding sequence variant, stop gained, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
313
miRTarBase ID miRNA Experiments Reference
MIRT024693 hsa-miR-215-5p Microarray 19074876
MIRT026535 hsa-miR-192-5p Microarray 19074876
MIRT049910 hsa-miR-30a-3p CLASH 23622248
MIRT690501 hsa-miR-548ac HITS-CLIP 23313552
MIRT690500 hsa-miR-548bb-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome IDA 15798186
GO:0000398 Process MRNA splicing, via spliceosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613352 24152 ENSG00000174891
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96IZ7
Protein name Serine/Arginine-related protein 53 (SRrp53) (Arginine/serine-rich coiled-coil protein 1)
Protein function Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing. {ECO
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in brain, spinal cord, cerebellum. {ECO:0000269|PubMed:29522154}.
Sequence
MGRRSSDTEEESRSKRKKKHRRRSSSSSSSDSRTYSRKKGGRKSRSKSRSWSRDLQPRSH
SYDRRRRHRSSSSSSYGSRRKRSRSRSRGRGKSYRVQRSRSKSRTRRSRSRPRLRSHSRS
SERSSHRRTRSRSRDRERRKGRDKEKREKEKDKGKDKELHNIKRGESGNIKAGLEHLPPA
EQAKARLQLVLEAAAKADEALKAKERNEEEAKRRKEEDQATLVEQVKRVKEIEAIESDSF
VQQTFRSSKEVKKSVEPSEVKQATSTSGPASAVADPPSTEKEIDPTSIPTAIKYQDDNSL
AHPNLFIEKADAEEKWFKRLIALRQERLMGSPVA
Sequence length 334
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder, autosomal recessive 70 Pathogenic; Likely pathogenic rs2108279740, rs754550509, rs1335486803, rs2473655748, rs1183090232, rs868818936, rs746219497, rs1727334508 RCV001836660
RCV001836661
RCV001836662
RCV003988705
RCV000768423
RCV000768424
RCV005626379
RCV005626380
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RSRC1-related disorder Benign; Likely benign rs141739160, rs143641214 RCV003911885
RCV003932002
Schizophrenia Uncertain significance rs2473531517 RCV002463537
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Nasopharyngeal Carcinoma Associate 24214394
Neoplasms Inhibit 31257492
Neuroblastoma Associate 28545128
Neurologic Manifestations Associate 31257492
Stomach Neoplasms Inhibit 31257492