SS18L1 (SS18L1 subunit of BAF chromatin remodeling complex)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 26039 |
| Gene name | SS18L1 subunit of BAF chromatin remodeling complex |
| Gene symbol | SS18L1 |
| Synonyms (NCBI Gene) |
CRESTLP2261SMARCL2
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| Chromosome | 20 |
| Chromosome location | 20q13.33 |
| Summary | 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 |
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miRNA
miRNA information provided by mirtarbase database.
360
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous; with lowest levels in spleen. | ||||||||||
| Sequence |
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| Sequence length | 396 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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