SMARCB1 - Gene info - The Human Protein Atlas

Gene name

SMARCB1 (HGNC Symbol)

Synonyms

BAF47, hSNFS, Ini1, PPP1R144, RDT, Sfh1p, SNF5, SNF5L1, Snr1

Description

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (HGNC Symbol)

Entrez gene summary

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

Cytoband

q11.23

Chromosome location (bp)

23786963 - 23834516

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000099956 (version 78.38)

Entrez gene

6598

UniProt

Q12824 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMARCB1-001

ENSP00000263121
ENST00000263121

Q12824
Show all » « Hide

Q12824 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Show » « Hide

Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000228 [nuclear chromosome]
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding]
GO:0001741 [XY body]
GO:0001824 [blastocyst development]
GO:0001835 [blastocyst hatching]
GO:0002039 [p53 binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006351 [transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007399 [nervous system development]
GO:0008285 [negative regulation of cell proliferation]
GO:0015074 [DNA integration]
GO:0016514 [SWI/SNF complex]
GO:0030154 [cell differentiation]
GO:0030957 [Tat protein binding]
GO:0031492 [nucleosomal DNA binding]
GO:0039692 [single stranded viral RNA replication via double stranded DNA intermediate]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0043923 [positive regulation by host of viral transcription]
GO:0044772 [mitotic cell cycle phase transition]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]

385

44.1

SMARCB1-002

ENSP00000383984
ENST00000407422

Q12824
Show all » « Hide

Q12824 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Show » « Hide

GO:0000228 [nuclear chromosome]
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding]
GO:0002039 [p53 binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006351 [transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007399 [nervous system development]
GO:0008285 [negative regulation of cell proliferation]
GO:0015074 [DNA integration]
GO:0016514 [SWI/SNF complex]
GO:0030154 [cell differentiation]
GO:0030957 [Tat protein binding]
GO:0031492 [nucleosomal DNA binding]
GO:0039692 [single stranded viral RNA replication via double stranded DNA intermediate]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0043923 [positive regulation by host of viral transcription]
GO:0044772 [mitotic cell cycle phase transition]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]

376

43.2

SMARCB1-003

ENSP00000385226
ENST00000407082

B5MCL5
Show all » « Hide

B5MCL5 [Target identity:100%; Query identity:100%]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 {ECO:0000313|Ensembl:ENSP00000385226}

Show » « Hide

Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000228 [nuclear chromosome]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0006338 [chromatin remodeling]

339

38.8

SMARCB1-005

ENSP00000340883
ENST00000344921

G5E975
Show all » « Hide

G5E975 [Target identity:100%; Query identity:100%]
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, isoform CRA_c {ECO:0000313|EMBL:EAW59607.1}; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 {ECO:0000313|Ensembl:ENSP00000340883}

Show » « Hide

   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000228 [nuclear chromosome]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0006338 [chromatin remodeling]

394

45.1

SMARCB1-006

ENSP00000388489
ENST00000417137

C9JTA6
Show all » « Hide

C9JTA6 [Target identity:100%; Query identity:100%]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 {ECO:0000313|Ensembl:ENSP00000388489}

Show » « Hide

   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000228 [nuclear chromosome]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0006338 [chromatin remodeling]

227

25.9

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.