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Aliases for SS18L1 Gene

Aliases for SS18L1 Gene

  • SS18L1, NBAF Chromatin Remodeling Complex Subunit 2 3 5
  • Synovial Sarcoma Translocation Gene On Chromosome 18-Like 1 2 3
  • Calcium-Responsive Transactivator 2 3
  • SS18-Like Protein 1 3 4
  • SYT Homolog 1 3 4
  • CREST 3 4
  • KIAA0693 4
  • LP2261 3

External Ids for SS18L1 Gene

Previous GeneCards Identifiers for SS18L1 Gene

  • GC20P060482
  • GC20P061357
  • GC20P061404
  • GC20P060152
  • GC20P060718
  • GC20P057510

Summaries for SS18L1 Gene

Entrez Gene Summary for SS18L1 Gene

  • This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for SS18L1 Gene

SS18L1 (SS18L1, NBAF Chromatin Remodeling Complex Subunit) is a Protein Coding gene. Diseases associated with SS18L1 include Synovium Cancer. An important paralog of this gene is SS18.

UniProtKB/Swiss-Prot for SS18L1 Gene

  • Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity).

Gene Wiki entry for SS18L1 Gene

Additional gene information for SS18L1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SS18L1 Gene

Genomics for SS18L1 Gene

Regulatory Elements for SS18L1 Gene

Enhancers for SS18L1 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
GH20H062140 1.7 FANTOM5 ENCODE dbSUPER 13.6 -0.8 -815 4 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 MRGBP TAF4 SS18L1 DIDO1 ADRM1 MTG2 PIR42263 PSMA7
GH20H062793 1.8 FANTOM5 ENCODE dbSUPER 9.7 +652.1 652106 4 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 OGFR DIDO1 YTHDF1 RPS21 LSM14B LAMA5 MRGBP RTEL1 SS18L1 DPH3P1
GH20H062145 1.3 ENCODE dbSUPER 10.2 +2.7 2661 1 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 YY1 TCF12 ZNF766 GATA2 DIDO1 LAMA5 TAF4 ENSG00000226332 SS18L1 MTG2
GH20H062010 0.9 ENCODE 12.1 -132.7 -132691 0 ELF3 ARID4B SIN3A DMAP1 RAD21 ZNF143 RCOR1 SMARCA5 ZNF654 MXD4 SS18L1 PSMA7 HRH3 CDH4 LOC105372704 GC20M062040
GH20H062041 0.9 ENCODE 11.2 -100.8 -100760 2 ARID4B DMAP1 YY1 GLIS2 ATF7 SP5 ZHX2 MXD4 PPARG KAT8 TAF4 LSM14B PSMA7 SS18L1 CDH4 RPL17P48 MIR3195
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SS18L1 on UCSC Golden Path with GeneCards custom track

Promoters for SS18L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139673 -220 2601 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZHX2 MXD4

Genomic Location for SS18L1 Gene

Chromosome:
20
Start:
62,143,720 bp from pter
End:
62,182,510 bp from pter
Size:
38,791 bases
Orientation:
Plus strand

Genomic View for SS18L1 Gene

Genes around SS18L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SS18L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SS18L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SS18L1 Gene

Proteins for SS18L1 Gene

  • Protein details for SS18L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75177-CREST_HUMAN
    Recommended name:
    Calcium-responsive transactivator
    Protein Accession:
    O75177
    Secondary Accessions:
    • A6NNE3
    • A8K620
    • B3KWR8
    • E1P5H7
    • Q5JXJ3
    • Q6MZV9
    • Q6NTH3
    • Q6XYD9
    • Q8NE69
    • Q9BR55
    • Q9H4K6

    Protein attributes for SS18L1 Gene

    Size:
    396 amino acids
    Molecular mass:
    42990 Da
    Quaternary structure:
    • Homodimer. Dimerization may be necessary for its function in neuronal dendritic development. Interacts (via C-terminus) with CREBBP (via N-terminus), EP300 and SMARCA4/BRG1. Interacts with the nBAF complex. Association with CREBBP facilitates transcription while the association with SMARCA4/BRG1 suppresses CREST-mediated transcription in resting neurons (By similarity).
    SequenceCaution:
    • Sequence=BAA31668.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SS18L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SS18L1 Gene

Post-translational modifications for SS18L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SS18L1 Gene

Domains & Families for SS18L1 Gene

Gene Families for SS18L1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for SS18L1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SS18L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75177

UniProtKB/Swiss-Prot:

CREST_HUMAN :
  • The MFD (multi-functional domain) domain is involved in transcription transactivation, nuclear body targeting and dimerization.
  • Belongs to the SS18 family.
Domain:
  • The MFD (multi-functional domain) domain is involved in transcription transactivation, nuclear body targeting and dimerization.
Family:
  • Belongs to the SS18 family.
genes like me logo Genes that share domains with SS18L1: view

Function for SS18L1 Gene

Molecular function for SS18L1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity).

Gene Ontology (GO) - Molecular Function for SS18L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with SS18L1: view
genes like me logo Genes that share phenotypes with SS18L1: view

Animal Models for SS18L1 Gene

MGI Knock Outs for SS18L1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SS18L1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SS18L1 Gene

Localization for SS18L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SS18L1 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to nuclear bodies. Colocalizes with SGO1 at kinetochore (By similarity). {ECO:0000250}.

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 SS18L1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SS18L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 18331714
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000780 condensed nuclear chromosome, centromeric region IEA --
GO:0005634 nucleus ISS,IDA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SS18L1: view

Pathways & Interactions for SS18L1 Gene

SuperPathways for SS18L1 Gene

No Data Available

SIGNOR curated interactions for SS18L1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SS18L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016358 dendrite development IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0045893 positive regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with SS18L1: view

No data available for Pathways by source for SS18L1 Gene

Drugs & Compounds for SS18L1 Gene

No Compound Related Data Available

Transcripts for SS18L1 Gene

Unigene Clusters for SS18L1 Gene

Synovial sarcoma translocation gene on chromosome 18-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SS18L1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SS18L1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - - - -
SP2:
SP3: - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for SS18L1 Gene

GeneLoc Exon Structure for
SS18L1
ECgene alternative splicing isoforms for
SS18L1

Expression for SS18L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SS18L1 Gene

Protein differential expression in normal tissues from HIPED for SS18L1 Gene

This gene is overexpressed in NK cells (22.1), Fetal Brain (12.3), Fetal testis (10.0), and Frontal cortex (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SS18L1 Gene



Protein tissue co-expression partners for SS18L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SS18L1 Gene:

SS18L1

SOURCE GeneReport for Unigene cluster for SS18L1 Gene:

Hs.154429

mRNA Expression by UniProt/SwissProt for SS18L1 Gene:

O75177-CREST_HUMAN
Tissue specificity: Ubiquitous; with lowest levels in spleen.

Evidence on tissue expression from TISSUES for SS18L1 Gene

  • Nervous system(4.6)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with SS18L1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SS18L1 Gene

Orthologs for SS18L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SS18L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SS18L1 34 33
  • 99.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SS18L1 34 33
  • 89.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ss18l1 16 34 33
  • 88.22 (n)
oppossum
(Monodelphis domestica)
Mammalia SS18L1 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SS18L1 34 33
  • 87.85 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SS18L1 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ss18l1 33
  • 84.3 (n)
chicken
(Gallus gallus)
Aves SS18L1 34 33
  • 77.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SS18L1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ss18l1 33
  • 78.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10555 34
  • 7 (a)
OneToMany
Species where no ortholog for SS18L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SS18L1 Gene

ENSEMBL:
Gene Tree for SS18L1 (if available)
TreeFam:
Gene Tree for SS18L1 (if available)

Paralogs for SS18L1 Gene

Paralogs for SS18L1 Gene

(5) SIMAP similar genes for SS18L1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SS18L1 Gene

genes like me logo Genes that share paralogs with SS18L1: view

Variants for SS18L1 Gene

Sequence variations from dbSNP and Humsavar for SS18L1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs587777632 Uncertain significance 62,174,642(+) ATGAA(C/T)AGGCA nc-transcript-variant, reference, stop-gained
rs587777633 Uncertain significance 62,161,573(+) CAGAT(G/T)GGCAA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs587777634 Uncertain significance 62,163,561(+) CAGGG(-/CAGCCAGGG)GAGCA nc-transcript-variant, cds-indel
rs1000160033 -- 62,159,221(+) TCCAG(G/T)TGGGA intron-variant
rs1000243706 -- 62,153,098(+) GGAAG(A/G)GGAAG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SS18L1 Gene

Variant ID Type Subtype PubMed ID
dgv7648n54 CNV gain+loss 21841781
dgv7649n54 CNV gain 21841781
esv22512 CNV loss 19812545
esv2722777 CNV deletion 23290073
esv3307530 CNV mobile element insertion 20981092
esv3391359 CNV insertion 20981092
nsv1112793 CNV deletion 24896259
nsv1143990 CNV deletion 24896259
nsv3440 CNV insertion 18451855
nsv509782 CNV insertion 20534489
nsv586475 CNV loss 21841781
nsv586476 CNV gain 21841781
nsv586481 CNV gain 21841781
nsv586484 CNV loss 21841781
nsv828770 CNV gain 20364138

Variation tolerance for SS18L1 Gene

Residual Variation Intolerance Score: 9.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SS18L1 Gene

Human Gene Mutation Database (HGMD)
SS18L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SS18L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SS18L1 Gene

Disorders for SS18L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SS18L1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
synovium cancer
  • malignant tumor of synovium
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SS18L1

Genetic Association Database (GAD)
SS18L1
Human Genome Epidemiology (HuGE) Navigator
SS18L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SS18L1
genes like me logo Genes that share disorders with SS18L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SS18L1 Gene

Publications for SS18L1 Gene

  1. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 45 60
  3. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T … Yamada Y (International journal of molecular medicine 2009) 3 45 60
  4. sSgo1, a major splice variant of Sgo1, functions in centriole cohesion where it is regulated by Plk1. (PMID: 18331714) Wang X … Dai W (Developmental cell 2008) 3 4 60
  5. Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci. (PMID: 16484776) de Bruijn DR … Geurts van Kessel A (Cytogenetic and genome research 2006) 3 22 60

Products for SS18L1 Gene

Sources for SS18L1 Gene

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