Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26039
Gene name Gene Name - the full gene name approved by the HGNC.
SS18L1 subunit of BAF chromatin remodeling complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SS18L1
Synonyms (NCBI Gene) Gene synonyms aliases
CREST, LP2261, SMARCL2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez 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 later
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT677120 hsa-miR-3155a HITS-CLIP 23824327
MIRT677119 hsa-miR-3155b HITS-CLIP 23824327
MIRT677118 hsa-miR-484 HITS-CLIP 23824327
MIRT677117 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT677116 hsa-miR-764 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore IDA 18331714
GO:0000777 Component Condensed chromosome kinetochore IEA
GO:0003713 Function Transcription coactivator activity IEA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 26871637
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606472 15592 ENSG00000184402
Protein
UniProt ID O75177
Protein name Calcium-responsive transactivator (SS18-like protein 1) (SYT homolog 1)
Protein 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 regu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05030 SSXT 13 74 SSXT protein (N-terminal region) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; with lowest levels in spleen.
Sequence
MSVAFASARPRGKGEVTQQTIQKMLDENHHLIQCILEYQSKGKTAECTQYQQILHRNLVY
LATIADSNQNMQSL
LPAPPTQNMNLGPGALTQSGSSQGLHSQGSLSDAISTGLPPSSLLQ
GQIGNGPSHVSMQQTAPNTLPTTSMSISGPGYSHAGPASQGVPMQGQGTIGNYVSRTNIN
MQSNPVSMMQQQAATSHYSSAQGGSQHYQGQSSIAMMGQGSQGSSMMGQRPMAPYRPSQQ
GSSQQYLGQEEYYGEQYSHSQGAAEPMGQQYYPDGHGDYAYQQSSYTEQSYDRSFEESTQ
HYYEGGNSQYSQQQAGYQQGAAQQQTYSQQQYPSQQSYPGQQQGYGSAQGAPSQYPGYQQ
GQGQQYGSYRAPQTAPSAQQQRPYGYEQGQYGNYQQ
Sequence length 396
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  ATP-dependent chromatin remodeling
Transcriptional misregulation in cancer
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1 rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 24360741
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35441736
Alcoholism Associate 28981154
Hypomagnesemia primary Associate 37960754
Neoplasms Associate 21733186, 30018130, 34504309
Sarcoma Synovial Associate 27914109, 34504309
Scleroderma Diffuse Associate 2515813