The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on c... See more...

Aliases for SRSF6 Gene

Aliases for SRSF6 Gene

  • Serine And Arginine Rich Splicing Factor 6 2 3 5
  • Serine/Arginine-Rich Splicing Factor 6 2 3 4
  • Splicing Factor, Arginine/Serine-Rich 6 2 4
  • Pre-MRNA-Splicing Factor SRP55 3 4
  • SR Splicing Factor 6 2 3
  • SFRS6 3 4
  • SRP55 3 4
  • Splicing Factor, Arginine/Serine-Rich, 55 KDa 3
  • Epididymis Secretory Protein Li 91 3
  • Pre-MRNA Splicing Factor SRP55 2
  • HEL-S-91 3
  • B52 3

External Ids for SRSF6 Gene

Previous HGNC Symbols for SRSF6 Gene

  • SFRS6

Previous GeneCards Identifiers for SRSF6 Gene

  • GC20P042087
  • GC20P038822

Summaries for SRSF6 Gene

Entrez Gene Summary for SRSF6 Gene

  • The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]

GeneCards Summary for SRSF6 Gene

SRSF6 (Serine And Arginine Rich Splicing Factor 6) is a Protein Coding gene. Diseases associated with SRSF6 include Aromatic L-Amino Acid Decarboxylase Deficiency and Plasmodium Malariae Malaria. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is SRSF4.

UniProtKB/Swiss-Prot Summary for SRSF6 Gene

  • Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing.

Gene Wiki entry for SRSF6 Gene

Additional gene information for SRSF6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRSF6 Gene

Genomics for SRSF6 Gene

GeneHancer (GH) Regulatory Elements for SRSF6 Gene

Promoters and enhancers for SRSF6 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 SRSF6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRSF6

Genomic Locations for SRSF6 Gene

Genomic Locations for SRSF6 Gene
chr20:43,457,864-43,466,046
(GRCh38/hg38)
Size:
8,183 bases
Orientation:
Plus strand
chr20:42,086,504-42,092,245
(GRCh37/hg19)
Size:
5,742 bases
Orientation:
Plus strand

Genomic View for SRSF6 Gene

Genes around SRSF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRSF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRSF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRSF6 Gene

Proteins for SRSF6 Gene

  • Protein details for SRSF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13247-SRSF6_HUMAN
    Recommended name:
    Serine/arginine-rich splicing factor 6
    Protein Accession:
    Q13247
    Secondary Accessions:
    • B7Z6J3
    • E1P5W6
    • Q13244
    • Q13245
    • Q96J06
    • Q9UJB8
    • Q9Y3N7

    Protein attributes for SRSF6 Gene

    Size:
    344 amino acids
    Molecular mass:
    39587 Da
    Quaternary structure:
    • Binds SREK1/SFRS12. Interacts with DYRK1A.

    Alternative splice isoforms for SRSF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRSF6 Gene

Post-translational modifications for SRSF6 Gene

  • Extensively phosphorylated on serine residues in the RS domain. Phosphorylated by DYRK1A, probably in the RS domain. Phosphorylation by DYRK1A modulates alternative splice site selection and inhibits the expression of MAPT/Tau exon 10.
  • Ubiquitination at Lys127, Lys143, and Lys165
  • Modification sites at PhosphoSitePlus

Other Protein References for SRSF6 Gene

No data available for DME Specific Peptides for SRSF6 Gene

Domains & Families for SRSF6 Gene

Gene Families for SRSF6 Gene

Protein Domains for SRSF6 Gene

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

Suggested Antigen Peptide Sequences for SRSF6 Gene

GenScript: Design optimal peptide antigens:
  • Splicing factor arginine/serine-rich 6 (B5BU15_HUMAN)
  • Splicing factor, arginine/serine-rich 6 (SRSF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13247

UniProtKB/Swiss-Prot:

SRSF6_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 SRSF6: view

Function for SRSF6 Gene

Molecular function for SRSF6 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing.

Phenotypes From GWAS Catalog for SRSF6 Gene

Gene Ontology (GO) - Molecular Function for SRSF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IDA,IBA 24440982
GO:0005515 protein binding IPI 25416956
GO:0036002 pre-mRNA binding IDA 12549914
genes like me logo Genes that share ontologies with SRSF6: view
genes like me logo Genes that share phenotypes with SRSF6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRSF6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRSF6 Gene

Localization for SRSF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRSF6 Gene

Nucleus. Nucleus speckle.

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 SRSF6 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRSF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck IDA,IBA 22767602
genes like me logo Genes that share ontologies with SRSF6: view

Pathways & Interactions for SRSF6 Gene

genes like me logo Genes that share pathways with SRSF6: view

Pathways by source for SRSF6 Gene

Gene Ontology (GO) - Biological Process for SRSF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IDA 22767602
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IMP,IDA 24440982
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006376 mRNA splice site selection IMP,TAS 12549914
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with SRSF6: view

No data available for SIGNOR curated interactions for SRSF6 Gene

Drugs & Compounds for SRSF6 Gene

No Compound Related Data Available

Transcripts for SRSF6 Gene

mRNA/cDNA for SRSF6 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRSF6

Alternative Splicing Database (ASD) splice patterns (SP) for SRSF6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8
SP1: - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5:
SP6:
SP7:

Relevant External Links for SRSF6 Gene

GeneLoc Exon Structure for
SRSF6

Expression for SRSF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRSF6 Gene

Protein differential expression in normal tissues from HIPED for SRSF6 Gene

This gene is overexpressed in Fetal ovary (7.8), Stomach (6.8), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRSF6 Gene



Protein tissue co-expression partners for SRSF6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRSF6

SOURCE GeneReport for Unigene cluster for SRSF6 Gene:

Hs.725336

Evidence on tissue expression from TISSUES for SRSF6 Gene

  • Intestine(4.5)
  • Liver(4.5)
  • Nervous system(4.4)
  • Blood(3.4)
  • Thyroid gland(2.8)
  • Skin(2.7)
  • Bone marrow(2.6)
  • Kidney(2.6)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Heart(2.3)
  • Lung(2.3)
  • Muscle(2.3)
  • Pancreas(2.3)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with SRSF6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRSF6 Gene

Orthologs for SRSF6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SRSF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRSF6 31 30
  • 96.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SRSF6 31 30
  • 92.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SRSF6 31 30
  • 92.08 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRSF6 31
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srsf6 30
  • 91.02 (n)
mouse
(Mus musculus)
Mammalia Srsf6 17 31 30
  • 89.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SRSF6 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRSF6 31 30
  • 74.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRSF6 31
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia b52-prov 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3160 30
zebrafish
(Danio rerio)
Actinopterygii srsf6b 31
  • 72 (a)
OneToMany
srsf6a 31
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-1 31
  • 52 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPL3 31
  • 18 (a)
OneToMany
Species where no ortholog for SRSF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRSF6 Gene

ENSEMBL:
Gene Tree for SRSF6 (if available)
TreeFam:
Gene Tree for SRSF6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRSF6: view image

Paralogs for SRSF6 Gene

Paralogs for SRSF6 Gene

(8) SIMAP similar genes for SRSF6 Gene using alignment to 2 proteins:

  • SRSF6_HUMAN
  • L0R6Q2_HUMAN

Pseudogenes.org Pseudogenes for SRSF6 Gene

genes like me logo Genes that share paralogs with SRSF6: view

Variants for SRSF6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRSF6 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
731744 Benign: not provided 43,460,203(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
779389 Benign: not provided 43,460,026(+) C/T INTRON_VARIANT
VAR_035489 A colorectal cancer sample p.Arg145Gln

Additional dbSNP identifiers (rs#s) for SRSF6 Gene

Structural Variations from Database of Genomic Variants (DGV) for SRSF6 Gene

Variant ID Type Subtype PubMed ID
nsv1057847 CNV loss 25217958
nsv1160678 CNV deletion 26073780
nsv586029 CNV gain 21841781

Variation tolerance for SRSF6 Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRSF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRSF6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRSF6 Gene

Disorders for SRSF6 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SRSF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aromatic l-amino acid decarboxylase deficiency
  • aadc deficiency
plasmodium malariae malaria
  • malaria by plasmodium malariae
aortitis
mixed malaria
  • malaria by more than one parasite
cataract 30
  • ctrct30
- elite association - COSMIC cancer census association via MalaCards
Search SRSF6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SRSF6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SRSF6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRSF6 Gene

Publications for SRSF6 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 54
  2. SRp55 is a regulator of calcitonin/CGRP alternative RNA splicing. (PMID: 12549914) Tran Q … Roesser JR (Biochemistry 2003) 3 4 23 54
  3. Splicing factor SRSF6 promotes hyperplasia of sensitized skin. (PMID: 24440982) Jensen MA … Krainer AR (Nature structural & molecular biology 2014) 3 4 54
  4. Dual-specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1A) modulates serine/arginine-rich protein 55 (SRp55)-promoted Tau exon 10 inclusion. (PMID: 22767602) Yin X … Liu F (The Journal of biological chemistry 2012) 3 4 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for SRSF6 Gene

Sources for SRSF6 Gene