• Gene id: 26039

Gene Summary

• Gene Symbol: SS18L1   Gene   UCSC   Ensembl
• Aliases: CREST, LP2261
• Gene name: SS18L1 subunit of BAF chromatin remodeling complex
• Alternate names: calcium-responsive transactivator, SS18-like protein 1, SS18L1, nBAF chromatin remodeling complex subunit, SYT homolog 1, synovial sarcoma translocation gene on chromosome 18-like 1,
• Gene location: 20q13.33 (62143764: 62182513)     Exons: 15     NC_000020.11
• Gene summary(Entrez): 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 later
• OMIM: 606472

Protein Summary

• Protein general information: O75177  
  • Name: Calcium responsive transactivator (SS18 like protein 1) (SYT homolog 1)
  • Length: 396  
  • Mass: 42990
  • Tissue specificity: Ubiquitous; with lowest levels in spleen.
• Sequence:

  MSVAFASARPRGKGEVTQQTIQKMLDENHHLIQCILEYQSKGKTAECTQYQQILHRNLVYLATIADSNQNMQSLL
  PAPPTQNMNLGPGALTQSGSSQGLHSQGSLSDAISTGLPPSSLLQGQIGNGPSHVSMQQTAPNTLPTTSMSISGP
  GYSHAGPASQGVPMQGQGTIGNYVSRTNINMQSNPVSMMQQQAATSHYSSAQGGSQHYQGQSSIAMMGQGSQGSS
  MMGQRPMAPYRPSQQGSSQQYLGQEEYYGEQYSHSQGAAEPMGQQYYPDGHGDYAYQQSSYTEQSYDRSFEESTQ
  HYYEGGNSQYSQQQAGYQQGAAQQQTYSQQQYPSQQSYPGQQQGYGSAQGAPSQYPGYQQGQGQQYGSYRAPQTA
  PSAQQQRPYGYEQGQYGNYQQ

• Structural information:
  • Interpro: IPR007726  
  • STRING: ENSP00000333012
• Other Databases: GeneCards:  SS18L1  Malacards:  SS18L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050775	positive regulation of dendrite morphogenesis	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0000776	kinetochore	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0050775	positive regulation of dendrite morphogenesis	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0016604	nuclear body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0071565	nBAF complex	IEA	cellular component
GO:0000780	condensed nuclear chromosome, centromeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq