SRSF9 Gene (Protein Coding)

Serine And Arginine Rich Splicing Factor 9

GC12M120461
GIFtS:
41
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 ... See more...

Aliases for SRSF9 Gene

Aliases for SRSF9 Gene

  • Serine And Arginine Rich Splicing Factor 9 2 3 5
  • Splicing Factor, Arginine/Serine-Rich 9 2 3 4
  • Serine/Arginine-Rich Splicing Factor 9 2 3 4
  • Pre-MRNA-Splicing Factor SRp30C 3 4
  • SR Splicing Factor 9 2 3
  • SRp30c 2 3
  • SFRS9 3 4
  • SRP30C 4
  • SRSF9 5

External Ids for SRSF9 Gene

Previous HGNC Symbols for SRSF9 Gene

  • SFRS9

Previous GeneCards Identifiers for SRSF9 Gene

  • GC12M120900
  • GC12M117908

Summaries for SRSF9 Gene

Entrez Gene Summary for SRSF9 Gene

  • 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]

GeneCards Summary for SRSF9 Gene

SRSF9 (Serine And Arginine Rich Splicing Factor 9) is a Protein Coding gene. Diseases associated with SRSF9 include Aromatic L-Amino Acid Decarboxylase Deficiency and Spinocerebellar Ataxia 31. Among its related pathways are mRNA Splicing - Major Pathway and RNA Polymerase II Transcription Termination. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SRSF1.

UniProtKB/Swiss-Prot Summary for SRSF9 Gene

  • Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10.

Gene Wiki entry for SRSF9 Gene

Additional gene information for SRSF9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRSF9 Gene

Genomics for SRSF9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SRSF9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRSF9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRSF9

Genomic Locations for SRSF9 Gene

Latest Assembly
chr12:120,461,672-120,469,748
(GRCh38/hg38)
Size:
8,077 bases
Orientation:
Minus strand

Previous Assembly
chr12:120,899,475-120,907,551
(GRCh37/hg19 by Entrez Gene)
Size:
8,077 bases
Orientation:
Minus strand

chr12:120,899,471-120,907,596
(GRCh37/hg19 by Ensembl)
Size:
8,126 bases
Orientation:
Minus strand

Genomic View for SRSF9 Gene

Genes around SRSF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRSF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRSF9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SRSF9 Gene

Proteins for SRSF9 Gene

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  • Protein details for SRSF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13242-SRSF9_HUMAN
    Recommended name:
    Serine/arginine-rich splicing factor 9
    Protein Accession:
    Q13242
    Secondary Accessions:
    • Q52LD1

    Protein attributes for SRSF9 Gene

    Size:
    221 amino acids
    Molecular mass:
    25542 Da
    Quaternary structure:
    • Interacts with KHDRBS3 (By similarity). Interacts with HABP4 (PubMed:19523114). Interacts with NOL3/ARC/NOP30 (PubMed:10196175). Interacts with NSEP1/YB-1/YB1 (PubMed:12604611). Interacts with SAFB/SAFB1 (PubMed:9671816, PubMed:11694584). Interacts with SRSF6/SFRS6 (PubMed:15695522). Interacts with TRA2B/SFRS10 (PubMed:11875052, PubMed:15695522). Interacts with C1QBP (PubMed:10022843). May also interact with DUSP11/PIR1(PubMed:11694584).

neXtProt entry for SRSF9 Gene

Protein Expression for SRSF9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SRSF9 Gene

  • Extensively phosphorylated on serine residues in the RS domain.
  • Ubiquitination at Lys28, Lys36, Lys128, Lys144, and Lys155
  • Modification sites at PhosphoSitePlus

Other Protein References for SRSF9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRSF9 Gene

Domains & Families for SRSF9 Gene

Gene Families for SRSF9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SRSF9 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for SRSF9 Gene

GenScript: Design optimal peptide antigens:
  • Splicing factor, arginine/serine-rich 9 (SRSF9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13242

UniProtKB/Swiss-Prot:

SRSF9_HUMAN :
  • Belongs to the splicing factor SR family.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with SRSF9: view

Function for SRSF9 Gene

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  6. Cell Lines for research

Molecular function for SRSF9 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10.

Phenotypes From GWAS Catalog for SRSF9 Gene

Gene Ontology (GO) - Molecular Function for SRSF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0005515 protein binding IPI 10196175
GO:0019904 protein domain specific binding IPI 10749975
genes like me logo Genes that share ontologies with SRSF9: view
genes like me logo Genes that share phenotypes with SRSF9: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SRSF9

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRSF9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRSF9 Gene

Localization for SRSF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRSF9 Gene

Nucleus. Note=Cellular stresses such as heat shock may induce localization to discrete nuclear bodies termed SAM68 nuclear bodies (SNBs), HAP bodies, or stress bodies. Numerous splicing factors including SRSF1/SFRS1/SF2, SRSF7/SFRS7, SAFB and KHDRBS1/SAM68 accumulate at these structures, which may participate in the post-transcriptional regulation of mRNAs in stressed cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRSF9 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRSF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0016607 nuclear speck IBA 21873635
genes like me logo Genes that share ontologies with SRSF9: view

Pathways & Interactions for SRSF9 Gene

genes like me logo Genes that share pathways with SRSF9: view

Pathways by source for SRSF9 Gene

1 BioSystems pathway for SRSF9 Gene
2 KEGG pathways for SRSF9 Gene

Gene Ontology (GO) - Biological Process for SRSF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006376 mRNA splice site selection TAS 7556075
GO:0006397 mRNA processing TAS 7556075
genes like me logo Genes that share ontologies with SRSF9: view

No data available for SIGNOR curated interactions for SRSF9 Gene

Drugs & Compounds for SRSF9 Gene

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No Compound Related Data Available

Transcripts for SRSF9 Gene

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mRNA/cDNA for SRSF9 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRSF9

Alternative Splicing Database (ASD) splice patterns (SP) for SRSF9 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for SRSF9 Gene

GeneLoc Exon Structure for
SRSF9

Expression for SRSF9 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRSF9 Gene

mRNA expression in normal human tissues for SRSF9 Gene
mRNA expression by GTEx for SRSF9 GenemRNA expression by BioGPS for SRSF9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRSF9 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.2), Nasal epithelium (6.9), and Fetal ovary (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRSF9 Gene



Protein tissue co-expression partners for SRSF9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRSF9

SOURCE GeneReport for Unigene cluster for SRSF9 Gene:

Hs.744094

mRNA Expression by UniProt/SwissProt for SRSF9 Gene:

Q13242-SRSF9_HUMAN
Tissue specificity: Expressed at high levels in the heart, kidney, pancreas and placenta, and at lower levels in the brain, liver, lung and skeletal muscle.

Evidence on tissue expression from TISSUES for SRSF9 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Intestine(4.5)
  • Blood(4.5)
  • Skin(2.6)
  • Kidney(2.6)
  • Adrenal gland(2.3)
  • Lung(2.3)
  • Lymph node(2.3)
  • Muscle(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with SRSF9: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRSF9 Gene

Orthologs for SRSF9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRSF9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SRSF9 30 31
  • 100 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SFRS9 31
  • 98 (a)
 OneToOne
SRSF9 30
  • 96.23 (n)
Dog
(Canis familiaris)
 Mammalia SRSF9 30 31
  • 96.68 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Srsf9 30 17 31
  • 93.48 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Srsf9 30
  • 90.2 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SRSF9 31
  • 86 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SRSF9 31
  • 79 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia srsf9 30
  • 71.23 (n)
Str.8004 30
Zebrafish
(Danio rerio)
 Actinopterygii srsf9 30 31
  • 64.9 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.98 30
Fruit Fly
(Drosophila melanogaster)
 Insecta SF2 31
  • 49 (a)
 ManyToMany
Rsf1 31
  • 30 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea rsp-3 31
  • 49 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NPL3 31 33
  • 16 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons SRp34a 30
  • 56.26 (n)
Wheat
(Triticum aestivum)
 Liliopsida Ta.3227 30
Corn
(Zea mays)
 Liliopsida Zm.10359 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5260 31
  • 56 (a)
 ManyToMany
CSA.1451 31
  • 55 (a)
 ManyToMany
Species where no ortholog for SRSF9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SRSF9 Gene

ENSEMBL:
Gene Tree for SRSF9 (if available)
TreeFam:
Gene Tree for SRSF9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRSF9: view image

Paralogs for SRSF9 Gene

Paralogs for SRSF9 Gene

(13) SIMAP similar genes for SRSF9 Gene using alignment to 3 proteins:

  • SRSF9_HUMAN
  • H0YIB4_HUMAN
  • S4R3G0_HUMAN

Pseudogenes.org Pseudogenes for SRSF9 Gene

genes like me logo Genes that share paralogs with SRSF9: view

Variants for SRSF9 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRSF9 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs534202070 Benign: not provided 120,465,781(-) T/C
NM_003769.3(SRSF9):c.195A>G (p.Ala65=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SRSF9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SRSF9 Gene

Variant ID Type Subtype PubMed ID
esv2579823 CNV insertion 19546169
nsv1069702 CNV deletion 25765185
nsv1145631 CNV deletion 24896259
nsv509482 CNV insertion 20534489
nsv983370 CNV duplication 23825009

Variation tolerance for SRSF9 Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRSF9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRSF9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRSF9 Gene

Disorders for SRSF9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SRSF9 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SRSF9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SRSF9

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SRSF9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRSF9 Gene

Publications for SRSF9 Gene

  1. Identification and characterization of three members of the human SR family of pre-mRNA splicing factors. (PMID: 7556075) Screaton GR … Krainer AR (The EMBO journal 1995) 2 3 4 23
  2. Splicing factor SRp30c interaction with Y-box protein-1 confers nuclear YB-1 shuttling and alternative splice site selection. (PMID: 12604611) Raffetseder U … Mertens PR (The Journal of biological chemistry 2003) 3 4 23
  3. SRp30c is a repressor of 3' splice site utilization. (PMID: 12024014) Simard MJ … Chabot B (Molecular and cellular biology 2002) 3 4 23
  4. Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c. (PMID: 10196175) Stoss O … Stamm S (The Journal of biological chemistry 1999) 3 4 23
  5. A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). (PMID: 20516191) Manley JL … Krainer AR (Genes & development 2010) 2 3

ExternalLinks

View latest publications for SRSF9 gene in Mastermind

Products for SRSF9 Gene

  • Addgene plasmids for SRSF9

Sources for SRSF9 Gene