RSRC1 gene

arginine and serine rich coiled-coil 1

The information on this page was automatically extracted from online scientific databases.

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

From UniProt:

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.

From NCBI Gene:

  • INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70

From UniProt:

Intellectual developmental disorder, autosomal recessive 70 (MRT70): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients. [MIM:618402]

Cytogenetic Location: 3q25.32, which is the long (q) arm of chromosome 3 at position 25.32

Molecular Location: base pairs 158,110,052 to 158,545,730 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 3q25.32, which is the long (q) arm of chromosome 3 at position 25.32
  • BM-011
  • MRT70
  • SFRS21
  • SRrp53