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 N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interacti... See more...

Aliases for SRSF7 Gene

Aliases for SRSF7 Gene

  • Serine And Arginine Rich Splicing Factor 7 2 3 5
  • Serine/Arginine-Rich Splicing Factor 7 2 3 4
  • Splicing Factor, Arginine/Serine-Rich 7, 35kDa 2 3
  • SR Splicing Factor 7 2 3
  • Splicing Factor 9G8 3 4
  • SFRS7 3 4
  • Splicing Factor, Arginine/Serine-Rich 7 (35kD) 2
  • Splicing Factor, Arginine/Serine-Rich 7 4
  • Aging-Associated Protein 3 3
  • AAG3 3
  • 9G8 3

External Ids for SRSF7 Gene

Previous HGNC Symbols for SRSF7 Gene

  • SFRS7

Previous GeneCards Identifiers for SRSF7 Gene

  • GC02M038971

Summaries for SRSF7 Gene

Entrez Gene Summary for SRSF7 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 N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]

GeneCards Summary for SRSF7 Gene

SRSF7 (Serine And Arginine Rich Splicing Factor 7) is a Protein Coding gene. Diseases associated with SRSF7 include Loeys-Dietz Syndrome 2 and Cataract 4, Multiple Types. 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 nucleotide binding. An important paralog of this gene is SRSF4.

UniProtKB/Swiss-Prot Summary for SRSF7 Gene

  • Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific.

Gene Wiki entry for SRSF7 Gene

Additional gene information for SRSF7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRSF7 Gene

Genomics for SRSF7 Gene

GeneHancer (GH) Regulatory Elements for SRSF7 Gene

Promoters and enhancers for SRSF7 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 SRSF7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRSF7

Genomic Locations for SRSF7 Gene

Genomic Locations for SRSF7 Gene
chr2:38,743,599-38,751,494
(GRCh38/hg38)
Size:
7,896 bases
Orientation:
Minus strand
chr2:38,970,741-38,978,636
(GRCh37/hg19)
Size:
7,896 bases
Orientation:
Minus strand

Genomic View for SRSF7 Gene

Genes around SRSF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRSF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRSF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRSF7 Gene

Proteins for SRSF7 Gene

  • Protein details for SRSF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16629-SRSF7_HUMAN
    Recommended name:
    Serine/arginine-rich splicing factor 7
    Protein Accession:
    Q16629
    Secondary Accessions:
    • B4DLU6
    • G5E9M3
    • Q564D3

    Protein attributes for SRSF7 Gene

    Size:
    238 amino acids
    Molecular mass:
    27367 Da
    Quaternary structure:
    • Found in large molecular weight complexes containing CCNL1 and the p110 isoforms of either CDC2L1 or CDC2L2. Interacts with CCNL2 and CPSF6. Interacts with NXF1.

    Three dimensional structures from OCA and Proteopedia for SRSF7 Gene

    Alternative splice isoforms for SRSF7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRSF7 Gene

Post-translational modifications for SRSF7 Gene

  • Extensively phosphorylated on serine residues in the RS domain.
  • Ubiquitination at Lys12 and Lys24
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SRSF7

No data available for DME Specific Peptides for SRSF7 Gene

Domains & Families for SRSF7 Gene

Gene Families for SRSF7 Gene

Protein Domains for SRSF7 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • C2HC-type zinc-finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SRSF7 Gene

GenScript: Design optimal peptide antigens:
  • Splicing factor, arginine/serine-rich 7 (SRSF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16629

UniProtKB/Swiss-Prot:

SRSF7_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 SRSF7: view

Function for SRSF7 Gene

Molecular function for SRSF7 Gene

UniProtKB/Swiss-Prot Function:
Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific.

Phenotypes From GWAS Catalog for SRSF7 Gene

Gene Ontology (GO) - Molecular Function for SRSF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0005515 protein binding IPI 10749975
GO:0008270 zinc ion binding IEA --
GO:0019904 protein domain specific binding IPI 10749975
genes like me logo Genes that share ontologies with SRSF7: view
genes like me logo Genes that share phenotypes with SRSF7: view

Animal Models for SRSF7 Gene

MGI Knock Outs for SRSF7:
  • Srsf7 Srsf7<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SRSF7 Gene

miRTarBase miRNAs that target SRSF7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRSF7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRSF7 Gene

Localization for SRSF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRSF7 Gene

Nucleus. Cytoplasm.

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 SRSF7 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SRSF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IBA 21873635
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with SRSF7: view

Pathways & Interactions for SRSF7 Gene

genes like me logo Genes that share pathways with SRSF7: view

Pathways by source for SRSF7 Gene

SIGNOR curated interactions for SRSF7 Gene

Activates:

Gene Ontology (GO) - Biological Process for SRSF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing TAS 8013463
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with SRSF7: view

Drugs & Compounds for SRSF7 Gene

(3) Drugs for SRSF7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SRSF7: view

Transcripts for SRSF7 Gene

mRNA/cDNA for SRSF7 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRSF7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRSF7 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ·
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - - -
SP10: - - - - -
SP11:
SP12: -
SP13: -
SP14: - -
SP15:

ExUns: 11c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for SRSF7 Gene

GeneLoc Exon Structure for
SRSF7

Expression for SRSF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRSF7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRSF7 Gene

This gene is overexpressed in Fetal Brain (6.4) and NK cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRSF7 Gene



Protein tissue co-expression partners for SRSF7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRSF7

SOURCE GeneReport for Unigene cluster for SRSF7 Gene:

Hs.309090

mRNA Expression by UniProt/SwissProt for SRSF7 Gene:

Q16629-SRSF7_HUMAN
Tissue specificity: Brain, liver, kidney and lung.

Evidence on tissue expression from TISSUES for SRSF7 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Lung(3.4)
  • Kidney(3)
  • Bone marrow(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with SRSF7: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRSF7 Gene

Orthologs for SRSF7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SRSF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRSF7 31 30
  • 99.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SRSF7 31
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SRSF7 31 30
  • 94.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Srsf7 17 31 30
  • 92.3 (n)
rat
(Rattus norvegicus)
Mammalia Srsf7 30
  • 92.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SRSF7 31
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 88 (a)
OneToMany
SRSF7 31
  • 84 (a)
OneToMany
LOC100859609 30
  • 75.07 (n)
lizard
(Anolis carolinensis)
Reptilia SRSF7 31
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24806 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8131 30
zebrafish
(Danio rerio)
Actinopterygii srsf7a 31
  • 62 (a)
OneToOne
wufb39b02 30
fruit fly
(Drosophila melanogaster)
Insecta Rbp1 31
  • 50 (a)
OneToMany
x16 31
  • 45 (a)
OneToMany
Rbp1-like 31
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y57G11A.5 31
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2245 31
  • 57 (a)
OneToMany
CSA.3629 31
  • 52 (a)
OneToMany
Species where no ortholog for SRSF7 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 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 SRSF7 Gene

ENSEMBL:
Gene Tree for SRSF7 (if available)
TreeFam:
Gene Tree for SRSF7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRSF7: view image

Paralogs for SRSF7 Gene

Paralogs for SRSF7 Gene

(10) SIMAP similar genes for SRSF7 Gene using alignment to 5 proteins:

  • SRSF7_HUMAN
  • C9JAB2_HUMAN
  • F8WEA1_HUMAN
  • H7BZZ6_HUMAN
  • H7C1N1_HUMAN
genes like me logo Genes that share paralogs with SRSF7: view

Variants for SRSF7 Gene

Additional dbSNP identifiers (rs#s) for SRSF7 Gene

Structural Variations from Database of Genomic Variants (DGV) for SRSF7 Gene

Variant ID Type Subtype PubMed ID
dgv6790n54 CNV gain 21841781
dgv6791n54 CNV gain 21841781
esv2421335 CNV duplication 20811451
esv24300 CNV loss 19812545
esv2763640 CNV gain 21179565
esv3575232 CNV gain 25503493
esv3575233 CNV gain 25503493
esv3590421 CNV gain 21293372
nsv441752 CNV gain 18776908
nsv819664 CNV loss 19587683
nsv820974 CNV duplication 20802225
nsv828997 CNV loss 20364138
nsv9646 CNV loss 18304495

Variation tolerance for SRSF7 Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRSF7 Gene

Human Gene Mutation Database (HGMD)
SRSF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRSF7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRSF7 Gene

Disorders for SRSF7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SRSF7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
loeys-dietz syndrome 2
  • lds2
cataract 4, multiple types
  • ctrct4
cataract 34, multiple types
  • ctrct34
frontotemporal dementia
  • multiple system tauopathy with presenile dementia
loeys-dietz syndrome
  • furlong syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SRSF7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SRSF7

genes like me logo Genes that share disorders with SRSF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRSF7 Gene

Publications for SRSF7 Gene

  1. Characterization and cloning of the human splicing factor 9G8: a novel 35 kDa factor of the serine/arginine protein family. (PMID: 8013463) Cavaloc Y … Stévenin J (The EMBO journal 1994) 2 3 4 23 54
  2. Molecular basis of RNA recognition and TAP binding by the SR proteins SRp20 and 9G8. (PMID: 17036044) Hargous Y … Allain FH (The EMBO journal 2006) 3 4 23 54
  3. Cyclin L2, a novel RNA polymerase II-associated cyclin, is involved in pre-mRNA splicing and induces apoptosis of human hepatocellular carcinoma cells. (PMID: 14684736) Yang L … Cao X (The Journal of biological chemistry 2004) 3 4 23 54
  4. The gene encoding human splicing factor 9G8. Structure, chromosomal localization, and expression of alternatively processed transcripts. (PMID: 7629084) Popielarz M … Stévenin J (The Journal of biological chemistry 1995) 3 4 23 54
  5. Novel cis-active structures in the coding region mediate CRM1-dependent nuclear export of IFN-α 1 mRNA. (PMID: 20857263) Kimura T … Yamada H (Medical molecular morphology 2010) 3 4 54

Products for SRSF7 Gene