RSRC1 - arginine and serine rich coiled-coil 1 Gene

Homo sapiens

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

Gene ID: 51319 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

serine/Arginine-related protein 53

arginine/serine-rich coiled-coil 1

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12310	RSRC1 Human Pre-designed siRNA Set A		/	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

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