RNPS1 RNA binding protein with serine rich domain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNPS1provided by HGNC
Official Full Name: RNA binding protein with serine rich domain 1provided by HGNC
Primary source: HGNC:HGNC:10080
See related: Ensembl:ENSG00000205937 MIM:606447; AllianceGenome:HGNC:10080
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: E5.1
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]
Expression: Ubiquitous expression in bone marrow (RPKM 25.4), testis (RPKM 24.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2253116..2268126, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2275563..2290572, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2303117..2318127, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNPS1 stabilizes NAT10 protein to facilitate translation in cancer via tRNA ac[4]C modification.
Title: RNPS1 stabilizes NAT10 protein to facilitate translation in cancer via tRNA ac(4)C modification.
RNPS1 functions as an oncogenic splicing factor in cervical cancer cells.
Title: RNPS1 functions as an oncogenic splicing factor in cervical cancer cells.
RNA-binding protein with serine-rich domain 1 regulates microsatellite instability of uterine corpus endometrial adenocarcinoma.
Title: RNA-binding protein with serine-rich domain 1 regulates microsatellite instability of uterine corpus endometrial adenocarcinoma.
ubiquitin-specific protease 4 (USP4) is a binding partner of RNPS1.
Title: RNPS1 is modulated by ubiquitin-specific protease 4.
SRBD1 gene polymorphism is associated with the development of HTG as well as NTG, including late-onset NTG.
Title: Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.
RNPS1 is able to function together with ASF/SF2 to form ribonucleoprotein complexes on nascent transcripts, and thereby prevent formation of transcriptional R-loops.
Title: The RNA binding protein RNPS1 alleviates ASF/SF2 depletion-induced genomic instability.
The phosphorylation of RNPS1 at Ser-53 influences the efficiencies of both splicing and translation.
Title: Activation of pre-mRNA splicing by human RNPS1 is regulated by CK2 phosphorylation.
has a role in mRNA surveillance (detecting mRNAs with truncated open reading frames and subjecting them to nonsense-mediated mRNA decay (NMD))
Title: Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1.
binds to Upf complexes which bind upstream of mRNA exon-exon junctions
Title: Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of RNA binding protein S1, serine-rich domain (RNPS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65141 (e-PCR)
- UniSTS:230693

sY3084 (e-PCR)
- UniSTS:515126

RH69048 (e-PCR)
- UniSTS:84833

SHGC-53120 (e-PCR)
- UniSTS:57697

SHGC-67834 (e-PCR)
- UniSTS:91494

D1S1423 (e-PCR)
- UniSTS:149619

RH79853 (e-PCR)
- UniSTS:91888

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
NOT enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in RNA splicing	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ASAP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ASAP complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of exon-exon junction complex	TAS Traceable Author Statement more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RNA-binding protein with serine-rich domain 1

Names: RNA binding protein with serine-rich domain; RNA-binding protein S1, serine-rich domain; SR protein; SR-related protein LDC2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001286625.1 → NP_001273554.1 RNA-binding protein with serine-rich domain 1 isoform a

See identical proteins and their annotated locations for NP_001273554.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant (2). Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

BC108316, DA062271, L37368

Consensus CDS

CCDS10465.1

UniProtKB/Swiss-Prot

A8K1P0, B4DDU8, B4DZU7, B7ZA17, O75308, Q15287, Q32P25, Q8WY42, Q9NYG3

UniProtKB/TrEMBL

D3DU92, H3BTC0

Related

ENSP00000457723.1, ENST00000565678.5

Conserved Domains (1) summary

cd12365
Location:163 → 236

RRM_RNPS1; RNA recognition motif (RRM) found in RNA-binding protein with serine-rich domain 1 (RNPS1) and similar proteins
NM_001286626.2 → NP_001273555.1 RNA-binding protein with serine-rich domain 1 isoform b

See identical proteins and their annotated locations for NP_001273555.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon compared to variant 2. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AK316132, BC108316

Consensus CDS

CCDS66907.1

UniProtKB/Swiss-Prot

Q15287

Related

ENSP00000456352.1, ENST00000566458.5

Conserved Domains (1) summary

cd12365
Location:140 → 213

RRM_RNPS1; RNA recognition motif (RRM) found in RNA-binding protein with serine-rich domain 1 (RNPS1) and similar proteins
NM_001286627.2 → NP_001273556.1 RNA-binding protein with serine-rich domain 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate exons compared to variant 2. The resulting isoform (c) has shorter and distinct N- and C-termini compared to isoform a.

Source sequence(s)

BC108316, BI819738, DA818573

Consensus CDS

CCDS73811.1

UniProtKB/TrEMBL

H3BMS0

Related

ENSP00000454513.1, ENST00000567147.5

Conserved Domains (1) summary

cd12365
Location:140 → 203

RRM_RNPS1; RNA recognition motif in RNA-binding protein with serine-rich domain 1 (RNPS1) and similar proteins
NM_006711.5 → NP_006702.1 RNA-binding protein with serine-rich domain 1 isoform a

See identical proteins and their annotated locations for NP_006702.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant (2). Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

BC108316, HY012482

Consensus CDS

CCDS10465.1

UniProtKB/Swiss-Prot

A8K1P0, B4DDU8, B4DZU7, B7ZA17, O75308, Q15287, Q32P25, Q8WY42, Q9NYG3

UniProtKB/TrEMBL

D3DU92, H3BTC0

Related

ENSP00000380275.2, ENST00000397086.6

Conserved Domains (1) summary

cd12365
Location:163 → 236

RRM_RNPS1; RNA recognition motif (RRM) found in RNA-binding protein with serine-rich domain 1 (RNPS1) and similar proteins
NM_080594.4 → NP_542161.1 RNA-binding protein with serine-rich domain 1 isoform a

See identical proteins and their annotated locations for NP_542161.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the predominant transcript and encodes the longest isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

BC108316, BQ059026, DA818573

Consensus CDS

CCDS10465.1

UniProtKB/Swiss-Prot

A8K1P0, B4DDU8, B4DZU7, B7ZA17, O75308, Q15287, Q32P25, Q8WY42, Q9NYG3

UniProtKB/TrEMBL

D3DU92, H3BTC0

Related

ENSP00000315859.5, ENST00000320225.10

Conserved Domains (1) summary

cd12365
Location:163 → 236

RRM_RNPS1; RNA recognition motif (RRM) found in RNA-binding protein with serine-rich domain 1 (RNPS1) and similar proteins

RNA

NR_104485.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) has an alternate 5' end and lacks an alternate internal exon compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, compared to variant 2.

Source sequence(s)

AC009065, AF274003, AL559988, BC108316, DA818573

Related

ENST00000561718.5