SRSF9 serine and arginine rich splicing factor 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRSF9provided by HGNC
Official Full Name: serine and arginine rich splicing factor 9provided by HGNC
Primary source: HGNC:HGNC:10791
See related: Ensembl:ENSG00000111786 MIM:601943
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: SFRS9; SRp30c
Summary: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]
Expression: Ubiquitous expression in testis (RPKM 59.8), lymph node (RPKM 55.2) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12q24.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (120461672..120469748, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (120899471..120907558, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results identified SRSF9 protein as one of the factors involved in modulating the splicing of the DDC mutated (c.714+4A>T) transcript.
Title: Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
The splicing factor SRSF9 is a key factor that serves to restrict the editing of numerous protein-coding and non-coding sites to the brain. The results highlight the importance of SRSF9 as an editing regulator and suggest potential roles for other splicing factors.
Title: SRSF9 selectively represses ADAR2-mediated editing of brain-specific sites in primates.
Dehydroepiandrosterone (DHEA) and cortisol modulate SRSF9 and SRSF3 in a different way and data suggest that the anti-glucocorticoid effect of DHEA, among other mechanisms, is also exerted by modulating the expression of proteins involved in the splicing of the GR pre-mRNA.
Title: Role of spliceosome proteins in the regulation of glucocorticoid receptor isoforms by cortisol and dehydroepiandrosterone.
Report no correlation between expression of glucocorticoid receptor isoforms and SRp30c.
Title: Expression of glucocorticoid receptor isoforms and associations with serine/arginine-rich protein 30c and 40 in patients with systemic lupus erythematosus.
Overexpression of SRSF9 and SRSF1 promote beta-catenin accumulation via the recruitment of beta-catenin mRNA and by enhancing its translation in an mTOR-dependent manner.
Title: SRSF1 and SRSF9 RNA binding proteins promote Wnt signalling-mediated tumorigenesis by enhancing β-catenin biosynthesis.
Relative levels of SRp20, SRp30c, and SRp40 in TM cells control differential expression of the two alternatively spliced isoforms of the GR and thereby regulate GC responsiveness.
Title: Spliceosome protein (SRp) regulation of glucocorticoid receptor isoforms and glucocorticoid response in human trabecular meshwork cells.
these data indicated that tumor suppressive miR-1 induces apoptosis through direct inhibition of SRSF9 in bladder cancer.
Title: Tumor suppressive microRNA-1 mediated novel apoptosis pathways through direct inhibition of splicing factor serine/arginine-rich 9 (SRSF9/SRp30c) in bladder cancer.
These results suggest that SRp30c can activate human papillomavirus type 16 L1 mRNA expression via a bimodal mechanism: directly by stimulating splicing to late splice sites and indirectly by inhibiting competing early splice sites.
Title: Serine/arginine-rich protein 30c activates human papillomavirus type 16 L1 mRNA expression via a bimodal mechanism.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders.
findings indicate the importance of arginine methylation for the subnuclear localization of SFRS9.
Title: Arginine methylation analysis of the splicing-associated SR protein SFRS9/SRP30C.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, serine/arginine-rich splicing factor 9 (SRSF9), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with SRSF9 is increased by RRE	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

G19881 (e-PCR)
- UniSTS:63784

A002B13 (e-PCR)
- UniSTS:63785

RH44493 (e-PCR)
- UniSTS:32056

RH80576 (e-PCR)
- UniSTS:89678

STS-W73277 (e-PCR)
- UniSTS:16212

Cda16c02 (e-PCR)
- UniSTS:90808

NoName (e-PCR)
- UniSTS:484339

Homology

Homologs of the SRSF9 gene: The SRSF9 gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, A.thaliana, and frog.
Orthologs from Annotation Pipeline: 247 organisms have orthologs with human gene SRSF9
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RNA binding	HDA more info	PubMed
RNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
RNA export from nucleus	TAS Traceable Author Statement more info
mRNA 3'-end processing	TAS Traceable Author Statement more info
mRNA cis splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mRNA export from nucleus	TAS Traceable Author Statement more info
mRNA processing	TAS Traceable Author Statement more info	PubMed
mRNA splice site selection	TAS Traceable Author Statement more info	PubMed
mRNA splicing, via spliceosome	TAS Traceable Author Statement more info
negative regulation of mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
regulation of alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to alkaloid	IEA Inferred from Electronic Annotation more info
response to toxic substance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nuclear speck	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: serine/arginine-rich splicing factor 9

Names: SR splicing factor 9; pre-mRNA-splicing factor SRp30C; splicing factor, arginine/serine-rich 9

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_003769.3 → NP_003760.1 serine/arginine-rich splicing factor 9

See identical proteins and their annotated locations for NP_003760.1

Status: REVIEWED

Source sequence(s)

AI005398, BU786332, U30825

Consensus CDS

CCDS9199.1

UniProtKB/Swiss-Prot

Q13242

Related

ENSP00000229390.3, ENST00000229390.8

Conserved Domains (2) summary

cd12598
Location:15 → 86

RRM1_SRSF9; RNA recognition motif 1 in vertebrate serine/arginine-rich splicing factor 9 (SRSF9)

cd12768
Location:111 → 186

RRM2_SRSF9; RNA recognition motif 2 in vertebrate serine/arginine-rich splicing factor 9 (SRSF9)