Gene Gene information from NCBI Gene database.
Entrez ID 10921
Gene name RNA binding protein with serine rich domain 1
Gene symbol RNPS1
Synonyms (NCBI Gene)
E5.1
Chromosome 16
Chromosome location 16p13.3
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 d
miRNA miRNA information provided by mirtarbase database.
514
miRTarBase ID miRNA Experiments Reference
MIRT049704 hsa-miR-92a-3p CLASH 23622248
MIRT047858 hsa-miR-30c-5p CLASH 23622248
MIRT045589 hsa-miR-149-5p CLASH 23622248
MIRT044270 hsa-miR-106b-5p CLASH 23622248
MIRT043958 hsa-miR-378a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IDA 11546874
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 16209946
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 22203037
GO:0000398 Process MRNA splicing, via spliceosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606447 10080 ENSG00000205937
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15287
Protein name RNA-binding protein with serine-rich domain 1 (SR-related protein LDC2)
Protein function Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins
PDB 4A8X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 163 234 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:8543184}.
Sequence
MDLSGVKKKSLLGVKENNKKSSTRAPSPTKRKDRSDEKSKDRSKDKGATKESSEKDRGRD
KTRKRRSASSGSSSTRSRSSSTSSSGSSTSTGSSSGSSSSSASSRSGSSSTSRSSSSSSS
SGSPSPSRRRHDNRRRSRSKSKPPKRDEKERKRRSPSPKPTKVHIGRLTRNVTKDHIMEI
FSTYGKIKMIDMPVERMHPHLSKGYAYVEFENPDEAEKALKHMDGGQIDGQEIT
ATAVLA
PWPRPPPRRFSPPRRMLPPPPMWRRSPPRMRRRSRSPRRRSPVRRRSRSPGRRRHRSRSS
SNSSR
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport
mRNA surveillance pathway
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MOOD DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia, Nonobstructive Azoospermia BEFREE 24661730
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36300671 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 27990632 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36300671 Stimulate
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 31355251, 34817046 Associate
★☆☆☆☆
Found in Text Mining only
Frontotemporal dementia Frontotemporal dementia BEFREE 17137791
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 15798212
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke BEFREE 31831174
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 28382513
★☆☆☆☆
Found in Text Mining only