SS18L1

Chr 20q13.33

SS18L1 subunit of BAF chromatin remodeling complex

Aliases:: KIAA0693, CREST, SMARCL2
MANE:: ENST00000331758.8

OMIM: 606472 ↗NCBI: 26039 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SS18L1 · O75177

v62025-08-01

Predicted Aligned Error matrix for SS18L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.1/ 100

Low

396 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)2%
Low(50–70)15%
Very low(< 50)72%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

amyotrophic lateral sclerosis
0.41
neurodegenerative disease
0.25
injury
0.23
melanoma
0.19
head and neck squamous cell carcinoma
0.19
breast carcinoma
0.19
prostate carcinoma
0.19
hepatocellular carcinoma
0.19
uterine carcinosarcoma
0.18
breast ductal adenocarcinoma
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calcium-responsive transactivator

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)