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SMARCE1

GENERAL INFORMATION

Gene name

 SMARCE1

Gene description

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

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 13
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA003916 , CAB037318
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SMARCE1 (HGNC Symbol)

Synonyms

 BAF57

Description

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

Entrez gene summary

 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]

Chromosome

 17

Cytoband

 q21.2

Chromosome location (bp)

 40624962 - 40648508

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000073584 (version 83.38)

Entrez gene

 6605

UniProt

 Q969G3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q969G3

Antibodypedia

 SMARCE1 antibodies

PROTEIN BROWSER
«
SMARCE1-001
SMARCE1-006
SMARCE1-008
SMARCE1-009
SMARCE1-010
SMARCE1-012
SMARCE1-013
SMARCE1-014
SMARCE1-015
SMARCE1-016
SMARCE1-017
SMARCE1-018
SMARCE1-019
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMARCE1-001
ENSP00000323967
ENST00000348513
Q969G3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
A0A024R1S7 [Target identity:100%; Query identity:100%]
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1, isoform CRA_a
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   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:0003682 [chromatin binding]
GO:0003713 [transcription coactivator activity]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0008080 [N-acetyltransferase activity]
GO:0016514 [SWI/SNF complex]
GO:0016922 [ligand-dependent nuclear receptor binding]
GO:0017053 [transcriptional repressor complex]
GO:0022008 [neurogenesis]
GO:0031492 [nucleosomal DNA binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0047485 [protein N-terminus binding]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
GO:0090544 [BAF-type complex]
Show all
 411 aa
46.6 kDa 		No 0
SMARCE1-006
ENSP00000463405
ENST00000474246
J3QL66 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 77 aa
8.3 kDa 		No 0
SMARCE1-008
ENSP00000367039
ENST00000377808
Q969G3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
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:0003682 [chromatin binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0008080 [N-acetyltransferase activity]
GO:0016514 [SWI/SNF complex]
GO:0016922 [ligand-dependent nuclear receptor binding]
GO:0017053 [transcriptional repressor complex]
GO:0031492 [nucleosomal DNA binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0047485 [protein N-terminus binding]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
Show all
 328 aa
38 kDa 		No 0
SMARCE1-009
ENSP00000466608
ENST00000264640
K7EMQ8 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0031083 [BLOC-1 complex]
Show all
 177 aa
20.5 kDa 		No 0
SMARCE1-010
ENSP00000392958
ENST00000447024
H7C048 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0031083 [BLOC-1 complex]
Show all
 157 aa
18.3 kDa 		No 0
SMARCE1-012
ENSP00000445370
ENST00000431889
B4DGM3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1; cDNA FLJ55202, highly similar to SWI/SNF-related matrix-associatedactin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
Show all
 393 aa
44.8 kDa 		No 0
SMARCE1-013
ENSP00000462475
ENST00000580419
Q969G3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
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:0003682 [chromatin binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0008080 [N-acetyltransferase activity]
GO:0016514 [SWI/SNF complex]
GO:0016922 [ligand-dependent nuclear receptor binding]
GO:0017053 [transcriptional repressor complex]
GO:0031492 [nucleosomal DNA binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0047485 [protein N-terminus binding]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
Show all
 376 aa
42.8 kDa 		No 0
SMARCE1-014
ENSP00000464511
ENST00000578044
Q969G3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
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:0003682 [chromatin binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0008080 [N-acetyltransferase activity]
GO:0016514 [SWI/SNF complex]
GO:0016922 [ligand-dependent nuclear receptor binding]
GO:0017053 [transcriptional repressor complex]
GO:0031492 [nucleosomal DNA binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0047485 [protein N-terminus binding]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
Show all
 341 aa
39.3 kDa 		No 0
SMARCE1-015
ENSP00000411607
ENST00000400122
Q969G3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
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:0003682 [chromatin binding]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006337 [nucleosome disassembly]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0008080 [N-acetyltransferase activity]
GO:0016514 [SWI/SNF complex]
GO:0016922 [ligand-dependent nuclear receptor binding]
GO:0017053 [transcriptional repressor complex]
GO:0031083 [BLOC-1 complex]
GO:0031492 [nucleosomal DNA binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0047485 [protein N-terminus binding]
GO:0071564 [npBAF complex]
GO:0071565 [nBAF complex]
Show all
 293 aa
34.4 kDa 		No 0
SMARCE1-016
ENSP00000464061
ENST00000580654
J3QR61 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
C0IMW8 [Target identity:100%; Query identity:100%]
Smarce1 variant 10
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 153 aa
17.6 kDa 		No 0
SMARCE1-017
ENSP00000462857
ENST00000577721
J3KT85 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 101 aa
12.1 kDa 		No 0
SMARCE1-018
ENSP00000463216
ENST00000478349
J3QKS7 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0031083 [BLOC-1 complex]
Show all
 288 aa
33.4 kDa 		No 0
SMARCE1-019
ENSP00000463282
ENST00000582955
J3QKX6 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 129 aa
14.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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