SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Also known as: BAF57, SMCE1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969G3
- Gene
- SMARCE1
- Ensembl
- ENSG00000073584
- Chromosome
- 17
- Canonical length
- 411 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
411 residues, UniProt reviewed canonical sequence.
>Q969G3|SMARCE1
1 MSKRPSYAPP PTPAPATQMP STPGFVGYNP YSHLAYNNYR LGGNPGTNSR VTASSGITIP
61 KPPKPPDKPL MPYMRYSRKV WDQVKASNPD LKLWEIGKII GGMWRDLTDE EKQEYLNEYE
121 AEKIEYNESM KAYHNSPAYL AYINAKSRAE AALEEESRQR QSRMEKGEPY MSIQPAEDPD
181 DYDDGFSMKH TATARFQRNH RLISEILSES VVPDVRSVVT TARMQVLKRQ VQSLMVHQRK
241 LEAELLQIEE RHQEKKRKFL ESTDSFNNEL KRLCGLKVEV DMEKIAAEIA QAEEQARKRQ
301 EEREKEAAEQ AERSQSSIVP EEEQAANKGE EKKDDENIPM ETEETHLEET TESQQNGEEG
361 TSTPEDKESG QEGVDSMAEE GTSDSNTGSE SNSATVEEPP TDPIPEDEKK ELocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMARCE1 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)
- 0.55
- Highest tissue expression
- 71 nTPM
Expression across tissuesHPA
Tissue
- thymus: 71 nTPM
- ovary: 64 nTPM
- smooth muscle: 54 nTPM
- endometrium: 53 nTPM
- tonsil: 51 nTPM
- lymph node: 46 nTPM
Single-cell type
- megakaryocytes: 50 nCPM
- fallopian secretory cells: 31 nCPM
- thymic myoid cells: 30 nCPM
- fallopian tube ciliated cells: 28 nCPM
- megakaryocyte progenitors: 27 nCPM
- ocular epithelial cells: 26 nCPM
Immune cell
- NK-cell: 125 nTPM
- T-reg: 115 nTPM
- naive B-cell: 113 nTPM
- total PBMC: 112 nTPM
- basophil: 107 nTPM
- memory B-cell: 100 nTPM
Brain region
- white matter: 37 nTPM
- choroid plexus: 33 nTPM
- medulla oblongata: 33 nTPM
- cerebral cortex: 32 nTPM
- hypothalamus: 29 nTPM
- spinal cord: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMARCE1.
Disease | AllUniProt
Conditions SMARCE1 is implicated in, by any mechanism.
- Meningioma (MNGMA) MIM:607174
- Coffin-Siris syndrome 5 (CSS5) MIM:616938
Disease | GeneticClinVar
78 pathogenic / likely-pathogenic of 1,187 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Familial meningioma
- Hereditary cancer-predisposing syndrome
- Coffin-Siris syndrome 5
- Inborn genetic diseases
- Tessier cleft
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)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.74
- DepMap mean gene effect
- -0.77
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin remodeling
- negative regulation of DNA-templated transcription
- neurogenesis
- nucleosome disassembly
- positive regulation of cell differentiation
- positive regulation of double-strand break repair
- positive regulation of myoblast differentiation
- positive regulation of stem cell population maintenance
- positive regulation of T cell differentiation
- regulation of G0 to G1 transition
- regulation of G1/S transition of mitotic cell cycle
- regulation of mitotic metaphase/anaphase transition
- regulation of nucleotide-excision repair
- regulation of transcription by RNA polymerase II
Molecular functions
- chromatin binding
- DNA binding
- N-acetyltransferase activity
- nuclear receptor binding
- RNA binding
- transcription coactivator activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SMARCE1 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 SMARCE1 as an antibody target. Whether an autoantibody or antibody against SMARCE1 could matter depends on whether native SMARCE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMARCE1 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 SMARCE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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