RNPS1 - RNA binding protein with serine rich domain 1 Gene

Homo sapiens

Also known as E5.1

Gene ID: 10921 | Gene type: protein coding

About RNPS1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,253,116-2,268,126 (from NCBI)

This gene has 26 transcripts (splice variants) and 252 orthologues. Ubiquitous expression in bone marrow (RPKM 25.4), testis (RPKM 24.3) and 25 other tissues.

Summary

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

RNPS1 Products(5)

mRNA	Protein	Name
NM_001286625.1	NP_001273554.1	RNA-binding protein with serine-rich domain 1 isoform a
NM_001286626.2	NP_001273555.1	RNA-binding protein with serine-rich domain 1 isoform b
NM_001286627.2	NP_001273556.1	RNA-binding protein with serine-rich domain 1 isoform c
NM_006711.5	NP_006702.1	RNA-binding protein with serine-rich domain 1 isoform a
NM_080594.4	NP_542161.1	RNA-binding protein with serine-rich domain 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables RNA binding	IDA IDA: Inferred from direct assay	22388736	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	11546874	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11477570	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	12665594	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: Inferred from direct assay	11546874	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	16209946	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	12665594	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	22203037	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ASAP complex	IDA IDA: Inferred from direct assay	12665594	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11546874	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11546874	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

RNPS1 Protein Structure

RRM_1

0
100
200
305 a.a.

Protein Preferred Names

Protein Names

RNA-binding protein with serine-rich domain 1

RNA binding protein with serine-rich domain

Related Diseases

Diseases

Alias

Metaphyseal Chondrodysplasia, Schmid Type

MCDS	Schmid Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia Schmid Type	Spondylometaphyseal Dysplasia, Japanese Type
Japanese Type Spondylometaphyseal Dysplasia	Schmid Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia Type Schmid	Schmid Type Metaphyseal Chondrodysplasia
SMCD	Chondrodysplasia, Metaphyseal, Schmid Type
Corneal Dystrophy, Subepithelial Mucinous

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-RS12108	RNPS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RNPS1	RGD	RGD:1307522
Canis familiaris	RNPS1	VGNC	VGNC:45683
Mus musculus	RNPS1	MGD	MGI:97960
Felis catus	RNPS1	VGNC	VGNC:80680

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