1. Gene
  2. RNPS1 - RNA binding protein with serine rich domain 1 Gene

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

RNPS1 Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (165 - 234)

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  • 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

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