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SMARCB1

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GENERAL INFORMATION

Gene name

 SMARCB1

Gene description

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

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleoplasm. In addition localized to the nucleoli (fibrillar center).

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (supported)

Additional location

 In addition localized to the Nucleoli fibrillar center (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA018248
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoplasm. In addition localized to the nucleoli (fibrillar center).

Main location

 Nucleoplasm (supported)

Additional location

 Nucleoli fibrillar center (supported)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA018248 A-431 Nucleoplasm
Vesicles
HPA018248 U-2 OS Nucleoplasm
HPA018248 U-251 MG Nucleoplasm
Nucleoli fibrillar center

GENE INFORMATION

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

 22

Cytoband

 q11.23

Chromosome location (bp)

 23786963 - 23834516

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000099956 (version 83.38)

Entrez gene

 6598

UniProt

 Q12824 (UniProt - Evidence at protein level)

neXtProt

 NX_Q12824

Antibodypedia

 SMARCB1 antibodies

PROTEIN BROWSER
SMARCB1-001
SMARCB1-002
SMARCB1-003
SMARCB1-005
SMARCB1-006
SMARCB1-008
SMARCB1-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMARCB1-001
ENSP00000263121
ENST00000263121
Q12824 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Show all
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 all
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:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006325 [chromatin organization]
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]
GO:0090544 [BAF-type complex]
Show all
 385 aa
44.1 kDa 		No 0
SMARCB1-002
ENSP00000383984
ENST00000407422
Q12824 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Show all
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 all
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:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006325 [chromatin organization]
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]
Show all
 376 aa
43.2 kDa 		No 0
SMARCB1-003
ENSP00000385226
ENST00000407082
B5MCL5 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Show all
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 (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006338 [chromatin remodeling]
GO:0008285 [negative regulation of cell proliferation]
GO:0030154 [cell differentiation]
GO:0044772 [mitotic cell cycle phase transition]
Show all
 339 aa
38.8 kDa 		No 0
SMARCB1-005
ENSP00000340883
ENST00000344921
G5E975 [Direct mapping]
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, isoform CRA_c; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Show all
   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 (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006338 [chromatin remodeling]
GO:0008285 [negative regulation of cell proliferation]
GO:0030154 [cell differentiation]
GO:0044772 [mitotic cell cycle phase transition]
Show all
 394 aa
45.1 kDa 		No 0
SMARCB1-006
ENSP00000388489
ENST00000417137
C9JTA6 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Show all
   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 (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006338 [chromatin remodeling]
GO:0008285 [negative regulation of cell proliferation]
GO:0030154 [cell differentiation]
GO:0044772 [mitotic cell cycle phase transition]
Show all
 227 aa
25.9 kDa 		No 0
SMARCB1-008
ENSP00000489115
ENST00000635578
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 (Ezkurdia et al 2014)
Show all
 81 aa
9.1 kDa 		No 0
SMARCB1-009
ENSP00000489445
ENST00000634926
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 (Ezkurdia et al 2014)
Show all
 90 aa
10.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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