Seroatlas · Human Serome Atlas

SMARCB1

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Also known as: BAF47, hSNFS, INI-1, Ini1, PPP1R144, RDT, Sfh1p, SNF5, SNF5_HUMAN, SNF5L1, Snr1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q12824
Gene
SMARCB1
Ensembl
ENSG00000099956
Chromosome
22
Canonical length
385 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

385 residues, UniProt reviewed canonical sequence.

>Q12824|SMARCB1
     1  MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL WRRLATVEER
    61  KKIVASSHGK KTKPNTKDHG YTTLATSVTL LKASEVEEIL DGNDEKYKAV SISTEPPTYL
   121  REQKAKRNSQ WVPTLPNSSH HLDAVPCSTT INRNRMGRDK KRTFPLCFDD HDPAVIHENA
   181  SQPEVLVPIR LDMEIDGQKL RDAFTWNMNE KLMTPEMFSE ILCDDLDLNP LTFVPAIASA
   241  IRQQIESYPT DSILEDQSDQ RVIIKLNIHV GNISLVDQFE WDMSEKENSP EKFALKLCSE
   301  LGLGGEFVTT IAYSIRGQLS WHQKTYAFSE NPLPTVEIAI RNTGDADQWC PLLETLTDAE
   361  MEKKIRDQDR NTRRMRRLAN TAPAW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMARCB1 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)
0.37
Highest tissue expression
78 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 78 nTPM
  • ovary: 65 nTPM
  • testis: 62 nTPM
  • cervix: 56 nTPM
  • skeletal muscle: 54 nTPM
  • endometrium: 53 nTPM

Single-cell type

  • oocytes: 83 nCPM
  • choroid plexus epithelial cells: 48 nCPM
  • proximal tubule cells: 42 nCPM
  • late primary spermatocytes: 42 nCPM
  • renal collecting duct intercalated cells: 40 nCPM
  • undifferentiated spermatogonia: 40 nCPM

Immune cell

  • memory B-cell: 25 nTPM
  • non-classical monocyte: 17 nTPM
  • intermediate monocyte: 13 nTPM
  • plasmacytoid DC: 13 nTPM
  • classical monocyte: 13 nTPM
  • myeloid DC: 12 nTPM

Brain region

  • cerebral cortex: 14 nTPM
  • medulla oblongata: 9.9 nTPM
  • cerebellum: 9.5 nTPM
  • choroid plexus: 6.5 nTPM
  • midbrain: 6.4 nTPM
  • white matter: 6.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMARCB1.

Disease | AllUniProt

Conditions SMARCB1 is implicated in, by any mechanism.

Disease | GeneticClinVar

121 pathogenic / likely-pathogenic of 1,348 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.22
gnomAD pLI
1
gnomAD missense Z
3.6
DepMap mean gene effect
-0.82
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

  • SNF5/SMARCB1/INI1
  • Chromatin-remodeling complex component Sfh1/SNF5
  • SWI/SNF Subunit INI1, DNA binding domain
  • SNF5 / SMARCB1 / INI1
  • SWI/SNF Subunit INI1, DNA binding domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMARCB1 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 SMARCB1 as an antibody target. Whether an autoantibody or antibody against SMARCB1 could matter depends on whether native SMARCB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMARCB1 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 SMARCB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SMARCB1. 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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