SS18L1
Calcium-responsive transactivator
Also known as: CREST, CREST_HUMAN, KIAA0693, SMARCL2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75177
- Gene
- SS18L1
- Ensembl
- ENSG00000184402
- Chromosome
- 20
- Canonical length
- 396 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
396 residues, UniProt reviewed canonical sequence.
>O75177|SS18L1
1 MSVAFASARP RGKGEVTQQT IQKMLDENHH LIQCILEYQS KGKTAECTQY QQILHRNLVY
61 LATIADSNQN MQSLLPAPPT QNMNLGPGAL TQSGSSQGLH SQGSLSDAIS TGLPPSSLLQ
121 GQIGNGPSHV SMQQTAPNTL PTTSMSISGP GYSHAGPASQ GVPMQGQGTI GNYVSRTNIN
181 MQSNPVSMMQ QQAATSHYSS AQGGSQHYQG QSSIAMMGQG SQGSSMMGQR PMAPYRPSQQ
241 GSSQQYLGQE EYYGEQYSHS QGAAEPMGQQ YYPDGHGDYA YQQSSYTEQS YDRSFEESTQ
301 HYYEGGNSQY SQQQAGYQQG AAQQQTYSQQ QYPSQQSYPG QQQGYGSAQG APSQYPGYQQ
361 GQGQQYGSYR APQTAPSAQQ QRPYGYEQGQ YGNYQQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SS18L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.69
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 40 nTPM
- liver: 35 nTPM
- skin: 19 nTPM
- cerebral cortex: 13 nTPM
- hypothalamus: 12 nTPM
- skeletal muscle: 12 nTPM
Single-cell type
- hepatocytes: 55 nCPM
- myonuclei: 53 nCPM
- neutrophils: 50 nCPM
- retinal amacrine cells: 49 nCPM
- lactotrophs: 49 nCPM
- retinal ganglion cells: 43 nCPM
Immune cell
- naive B-cell: 1.2 nTPM
- non-classical monocyte: 0.7 nTPM
- naive CD4 T-cell: 0.6 nTPM
- neutrophil: 0.6 nTPM
- classical monocyte: 0.4 nTPM
- NK-cell: 0.4 nTPM
Brain region
- cerebellum: 67 nTPM
- white matter: 52 nTPM
- cerebral cortex: 41 nTPM
- pons: 38 nTPM
- thalamus: 37 nTPM
- basal ganglia: 36 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 1.57
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin organization
- dendrite development
- positive regulation of dendrite morphogenesis
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SS18L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SS18L1 as an antibody target. Whether an autoantibody or antibody against SS18L1 could matter depends on whether native SS18L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SS18L1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SS18L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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