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Aliases for SREK1 Gene

Aliases for SREK1 Gene

  • Splicing Regulatory Glutamic Acid And Lysine Rich Protein 1 2 3 5
  • Splicing Factor, Arginine/Serine-Rich 12 2 3 4
  • Serine-Arginine-Rich Splicing Regulatory Protein 508 2 3
  • Serine/Arginine-Rich-Splicing Regulatory Protein 86 3 4
  • SRrp508 3 4
  • SFRS12 3 4
  • SRrp86 3 4
  • Splicing Regulatory Glutamic Acid/Lysine-Rich Protein 1 3
  • Splicing Regulatory Glutamine/Lysine-Rich Protein 1 3
  • Splicing Regulatory Protein 508 4

External Ids for SREK1 Gene

Previous HGNC Symbols for SREK1 Gene

  • SFRS12

Previous GeneCards Identifiers for SREK1 Gene

  • GC05P062397
  • GC05P065435

Summaries for SREK1 Gene

Entrez Gene Summary for SREK1 Gene

  • This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for SREK1 Gene

SREK1 (Splicing Regulatory Glutamic Acid And Lysine Rich Protein 1) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SRSF11.

UniProtKB/Swiss-Prot for SREK1 Gene

  • Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity).

Gene Wiki entry for SREK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SREK1 Gene

Genomics for SREK1 Gene

Regulatory Elements for SREK1 Gene

Enhancers for SREK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F066151 0.5 FANTOM5 3.5 +12.0 12017 0.3 ZNF202 ZBTB33 CHAMP1 PPWD1 SREK1 ENSG00000253744 LINC02065
GH05F065721 0.6 FANTOM5 2.9 -420.2 -420215 0.2 IRF1 ERBIN ENSG00000252904 PPWD1 SGTB SREK1 TRAPPC13 CENPK TRIM23 NLN
GH05F065734 1.1 FANTOM5 Ensembl ENCODE 2.4 -405.1 -405071 1.4 MAFG MNT REST ZNF316 FOS ZBTB33 MAFK EMSY SPI1 ERBIN NLN PPWD1 SGTB SREK1 LOC100419549 GC05P065768
GH05F065773 1.2 FANTOM5 Ensembl ENCODE 2.3 -365.4 -365413 1.2 IKZF1 MAFK RELA SGTB NLN ENSG00000252904 PPWD1 ERBIN CENPK SREK1 GC05P065768 ENSG00000269961
GH05F065731 0.9 FANTOM5 Ensembl 2.1 -407.7 -407671 1.0 ERBIN NLN SGTB SREK1 LOC100419549
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SREK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SREK1 Gene

Chromosome:
5
Start:
66,139,971 bp from pter
End:
66,183,616 bp from pter
Size:
43,646 bases
Orientation:
Plus strand

Genomic View for SREK1 Gene

Genes around SREK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SREK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SREK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SREK1 Gene

Proteins for SREK1 Gene

  • Protein details for SREK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXA9-SREK1_HUMAN
    Recommended name:
    Splicing regulatory glutamine/lysine-rich protein 1
    Protein Accession:
    Q8WXA9
    Secondary Accessions:
    • A4FTW3
    • Q2M1J0
    • Q86X37

    Protein attributes for SREK1 Gene

    Size:
    508 amino acids
    Molecular mass:
    59380 Da
    Quaternary structure:
    • Homodimer. Binds SFRS1, SFRS2, SFRS3 and SFRS6. Interacts with the spliceosome (By similarity). Interacts with SREK1IP1.
    SequenceCaution:
    • Sequence=AAH47322.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for SREK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SREK1 Gene

Post-translational modifications for SREK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SREK1 Gene

Domains & Families for SREK1 Gene

Gene Families for SREK1 Gene

Protein Domains for SREK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXA9

UniProtKB/Swiss-Prot:

SREK1_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
  • Belongs to the splicing factor SR family.
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with SREK1: view

Function for SREK1 Gene

Molecular function for SREK1 Gene

UniProtKB/Swiss-Prot Function:
Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity).

Gene Ontology (GO) - Molecular Function for SREK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with SREK1: view
genes like me logo Genes that share phenotypes with SREK1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SREK1 Gene

Localization for SREK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SREK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SREK1 Gene COMPARTMENTS Subcellular localization image for SREK1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SREK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex IEA --
genes like me logo Genes that share ontologies with SREK1: view

Pathways & Interactions for SREK1 Gene

SuperPathways for SREK1 Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with SREK1: view

Pathways by source for SREK1 Gene

1 BioSystems pathway for SREK1 Gene

Gene Ontology (GO) - Biological Process for SREK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with SREK1: view

No data available for SIGNOR curated interactions for SREK1 Gene

Transcripts for SREK1 Gene

Unigene Clusters for SREK1 Gene

Splicing regulatory glutamine/lysine-rich protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SREK1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ·
SP1: - - - - -
SP2:
SP3: -
SP4: - - - -
SP5: - -
SP6: - -
SP7: - - -
SP8: -
SP9: -
SP10:
SP11:

ExUns: 17c · 17d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SREK1 Gene

GeneLoc Exon Structure for
SREK1
ECgene alternative splicing isoforms for
SREK1

Expression for SREK1 Gene

mRNA expression in normal human tissues for SREK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SREK1 Gene

This gene is overexpressed in Fetal ovary (10.3), NK cells (8.3), CD8 Tcells (7.8), and Fetal testis (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SREK1 Gene



Protein tissue co-expression partners for SREK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SREK1 Gene:

SREK1

SOURCE GeneReport for Unigene cluster for SREK1 Gene:

Hs.49367
genes like me logo Genes that share expression patterns with SREK1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SREK1 Gene

Orthologs for SREK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SREK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SREK1 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia SREK1 34 35
  • 93.26 (n)
cow
(Bos Taurus)
Mammalia SREK1 34 35
  • 92.56 (n)
mouse
(Mus musculus)
Mammalia Srek1 34 16 35
  • 88.37 (n)
rat
(Rattus norvegicus)
Mammalia Srek1 34
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia SREK1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SREK1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SREK1 34 35
  • 76.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17421 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15747 34
zebrafish
(Danio rerio)
Actinopterygii srek1 35
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Srp54 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-7 35
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2526 34
Species where no ortholog for SREK1 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)
  • lizard (Anolis carolinensis)
  • 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 SREK1 Gene

ENSEMBL:
Gene Tree for SREK1 (if available)
TreeFam:
Gene Tree for SREK1 (if available)

Paralogs for SREK1 Gene

Paralogs for SREK1 Gene

(4) SIMAP similar genes for SREK1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SREK1 Gene

genes like me logo Genes that share paralogs with SREK1: view

Variants for SREK1 Gene

Sequence variations from dbSNP and Humsavar for SREK1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10051123 -- 66,152,334(+) TCCTG(C/G)ACGTG intron-variant
rs10051294 -- 66,176,741(+) TTGTT(C/G)CTGTT intron-variant
rs10064590 -- 66,160,199(+) TATTT(A/T)AAAAG intron-variant
rs111240132 -- 66,179,008(+) GACTT(C/T)GTGGC utr-variant-3-prime
rs111267933 -- 66,147,308(+) AATCA(A/G)TCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SREK1 Gene

Variant ID Type Subtype PubMed ID
esv2661452 CNV deletion 23128226
esv33447 CNV loss 17666407
esv3447229 CNV insertion 20981092
esv3566039 CNV deletion 23714750
esv3605309 CNV loss 21293372
nsv1025781 CNV gain 25217958
nsv830328 CNV gain 17160897

Variation tolerance for SREK1 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.77; 33.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SREK1 Gene

Human Gene Mutation Database (HGMD)
SREK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SREK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SREK1 Gene

Disorders for SREK1 Gene

Relevant External Links for SREK1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SREK1

No disorders were found for SREK1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SREK1 Gene

Publications for SREK1 Gene

  1. Molecular cloning, characterization, chromosomal assignment, genomic organization and verification of SFRS12(SRrp508), a novel member of human SR protein superfamily and a human homolog of rat SRrp86. (PMID: 12043562) Zhang D.L. … Ma D.L. (Yi Chuan Xue Bao 2002) 2 3 4 64
  2. The splicing regulatory protein p18SRP is down-regulated in Alzheimer's disease brain. (PMID: 15456940) Heese K. … Sawada T. (J. Mol. Neurosci. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Large-scale proteomic analysis of the human spliceosome. (PMID: 12176931) Rappsilber J. … Mann M. (Genome Res. 2002) 3 4 64
  5. A unique glutamic acid-lysine (EK) domain acts as a splicing inhibitor. (PMID: 12183448) Li J. … Patton J.G. (J. Biol. Chem. 2002) 3 22 64

Products for SREK1 Gene

Sources for SREK1 Gene

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