RSRC1 (arginine and serine rich coiled-coil 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51319
Gene name Gene Name - the full gene name approved by the HGNC.
Arginine and serine rich coiled-coil 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSRC1
Synonyms (NCBI Gene) Gene synonyms aliases
BM-011, MRT70, SFRS21, SRrp53
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613352 24152 ENSG00000174891
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Developmental Disorder Intellectual developmental disorder, autosomal recessive 70 rs1183090232, rs868818936 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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