RSRC1 - arginine and serine rich coiled-coil 1 Gene

Also Known as MRT70; BM-011; SFRS21; SRrp53

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51319

About RSRC1

Cytogenetic location: 3q25.32 Genomic coordinates (GRCh38): 3:158,110,089-158,545,730 (from NCBI)

This gene has 29 transcripts (splice variants), 143 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 9.2) and 25 other tissues.

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 chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

RSRC1 Products (3)

mRNA Protein Name
NM_001271834.2 NP_001258763.1 serine/Arginine-related protein 53 isoform 2
NM_001271838.2 NP_001258767.1 serine/Arginine-related protein 53 isoform 1
NM_016625.4 NP_057709.2 serine/Arginine-related protein 53 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15798186 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within RNA splicing IDA
IDA: Inferred from direct assay
15798186 GOA
involved in mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
15798186 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
Protein Preferred Names Protein Names

serine/Arginine-related protein 53

  • arginine/serine-rich coiled-coil 1

RSRC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RSRC1 Q96IZ7 SRRM4 Homo sapiens A7MD48
Y2H Array
32296183
Intra
RSRC1 Q96IZ7 SRRM4 Homo sapiens A7MD48
Y2H Prey Pooling
32296183
Intra
RSRC1 Q96IZ7 SRPK2 Homo sapiens P78362
Protein Kinase Assay
23602568
Intra
RSRC1 Q96IZ7 JMJD6 Homo sapiens Q6NYC1
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 70

  • MRT70

  • Mental Retardation, Autosomal Recessive 70

  • Autosomal Recessive Intellectual Developmental Disorder 70
Autosomal Recessive Non-Syndromic Intellectual Disability

  • Ar-Nsid

  • Ns-Arid
Unilateral Focal Polymicrogyria
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12310 RSRC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RSRC1 VGNC VGNC:84089
Bos taurus RSRC1 VGNC VGNC:53602
Felis catus RSRC1 VGNC VGNC:82503
Rattus norvegicus RSRC1 RGD RGD:1304968
Mus musculus RSRC1 MGD MGI:1914130
Canis familiaris RSRC1 VGNC VGNC:56103
Others RSRC1 NCBI