SMARCB1

GENERAL INFORMATION

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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

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA018248 , HPA019127 , CAB009196
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

6598

UniProt

Q12824 (UniProt - Evidence at protein level)

neXtProt

NX_Q12824

Antibodypedia

SMARCB1 antibodies


PROTEIN BROWSER

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ENST00000263121
 
ENST00000344921
 
ENST00000407082
 
ENST00000407422
 
ENST00000417137
 
 
 
 


PROTEIN INFORMATION

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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 »
Show » Show » 385 44.1 No 0
SMARCB1-002 ENSP00000383984
ENST00000407422
Q12824
Show all »
Show » Show » 376 43.2 No 0
SMARCB1-003 ENSP00000385226
ENST00000407082
B5MCL5
Show all »
Show » Show » 339 38.8 No 0
SMARCB1-005 ENSP00000340883
ENST00000344921
G5E975
Show all »
Show » Show » 394 45.1 No 0
SMARCB1-006 ENSP00000388489
ENST00000417137
C9JTA6
Show all »
Show » Show » 227 25.9 No 0