Seroatlas · Human Serome Atlas

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 YGNYQQ

LocalizationUniProt · 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

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.

Canonical record: https://seroatlas.com/gene/SS18L1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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