Reactome | SMARCB1 [nucleoplasm]

SMARCB1 [nucleoplasm]

Stable Identifier

R-HSA-389261

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

Snf5, INI1

Locations in the PathwayBrowser

Expand all

Gene expression (Transcription) (Homo sapiens)

- RNA Polymerase II Transcription (Homo sapiens)
  - Generic Transcription Pathway (Homo sapiens)
    - Transcriptional regulation by RUNX1 (Homo sapiens)
      - RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known (Homo sapiens)
        
        RUNX1 binds the SWI/SNF complex (Homo sapiens)
        
        RUNX1:CBFB:SWI/SNF [nucleoplasm] (Homo sapiens)
        
        SWI/SNF chromatin remodelling complex [nucleoplasm] (Homo sapiens)
        
        SMARCA2,SMARCA4:SMARCB1:SMARCC1:SMARCC2 [nucleoplasm] (Homo sapiens)
        
        SMARCB1 [nucleoplasm] (Homo sapiens)
        
        SWI/SNF chromatin remodelling complex [nucleoplasm] (Homo sapiens)
        
        SMARCA2,SMARCA4:SMARCB1:SMARCC1:SMARCC2 [nucleoplasm] (Homo sapiens)
        
        SMARCB1 [nucleoplasm] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q12824 SMARCB1

Gene Names

SMARCB1, BAF47, INI1, SNF5L1

Chain

chain:1-385

Reference Genes

BioGPS Gene:6598 SMARCB1

COSMIC (genes):SMARCB1 SMARCB1

CTD Gene:6598 SMARCB1

dbSNP Gene:6598 SMARCB1

ENSEMBL:ENSG00000099956 SMARCB1

ENSEMBL:ENSG00000275837 SMARCB1

HGNC:11103 SMARCB1

KEGG Gene (Homo sapiens):6598 SMARCB1

Monarch:6598 SMARCB1

NCBI Gene:6598 SMARCB1

OMIM:601607 SMARCB1

UCSC:Q12824 SMARCB1

Reference Transcript

Other Identifiers

0004210603

11745213_a_at

11753187_a_at

11755155_x_at

16928046

212167_s_at

228898_s_at

229719_s_at

3939377

3939378

3939379

3939380

3939382

3939383

3939384

3939388

3939389

3939397

3939399

3939403

3939405

3939406

3939407

3939408

3939409

3939410

3939411

3939412

3939413

3939414

3939415

40416_at

6598

8071768

90507_at

A_14_P111527

A_23_P68824

A_33_P3232508

A_33_P3343073

GE62285

GO:0000228

GO:0000790

GO:0000978

GO:0001164

GO:0001188

GO:0001650

GO:0002039

GO:0003674

GO:0003677

GO:0003713

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005694

GO:0005730

GO:0006259

GO:0006281

GO:0006325

GO:0006337

GO:0006338

GO:0006357

GO:0006464

GO:0006950

GO:0007049

GO:0007165

GO:0007399

GO:0008134

GO:0008150

GO:0009058

GO:0015074

GO:0016032

GO:0016514

GO:0022607

GO:0030957

GO:0031492

GO:0032991

GO:0034641

GO:0035060

GO:0039692

GO:0042592

GO:0043044

GO:0043226

GO:0043231

GO:0043923

GO:0044403

GO:0045944

GO:0048856

GO:0051091

GO:0051276

GO:0065003

GO:0071564

GO:0071565

GO:0090240

GO:1900110

GO:1900113

GO:1901838

GO:1902661

GO:2000617

Hs.14587.1.A1_3p_a_at

Hs.14587.2.S1_3p_a_at

Hs.159971.2.A1_3p_a_at

ILMN_1758823

ILMN_2403458

PH_hs_0026820

TC22000139.hg

Participant Of

hasComponent

SMARCA2,SMARCA4:SMARCB1:SMARCC1:SMARCC2 [nucleoplasm]

Inferred To

sfh1 [nucleoplasm] (Schizosaccharomyces pombe)

snfc-5 [nucleoplasm] (Caenorhabditis elegans)

SFH1 [nucleoplasm] (Saccharomyces cerevisiae)

Smarcb1 [nucleoplasm] (Mus musculus)

Smarcb1 [nucleoplasm] (Rattus norvegicus)

smarcb1b [nucleoplasm] (Danio rerio)

smarcb1 [nucleoplasm] (Xenopus tropicalis)

SMARCB1 [nucleoplasm] (Canis familiaris)

SMARCB1 [nucleoplasm] (Dictyostelium discoideum)

SMARCB1 [nucleoplasm] (Gallus gallus)

SMARCB1 [nucleoplasm] (Sus scrofa)

Snr1 [nucleoplasm] (Drosophila melanogaster)

Cross References

RefSeq

NP_001007469.1, NP_003064.2

OpenTargets

ENSG00000099956

HPA

ENSG00000099956-SMARCB1

GeneCards

Q12824

Ensembl

ENSP00000479330, ENSP00000383984, ENSP00000494049, ENSG00000275837, ENSP00000486870, ENST00000631333, ENSG00000099956, ENST00000407422, ENST00000644036, ENST00000618915

PRO

Q12824

Orphanet

15526

PDB

5L7A, 5L7B, 6AX5, 5GJK, 5AJ1, 6LTJ, 6LTH, 6KZ7, 6UCH

Interactors (25)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P51532 SMARCA4	1	SMARCA4 [nucleoplasm] (R-HSA-201686)	0.942	34
UniProt:Q9NPI1 BRD7	1	BRD7 [nucleoplasm] (R-HSA-3222092)	0.69	8
UniProt:P27797 CALR	6	CALR [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-985502) CALR [endoplasmic reticulum lumen] (R-HSA-195905) CALR [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-8863866) CALR [phagocytic vesicle membrane] (R-HSA-1236879) CALR [extracellular region] (R-HSA-2197641) CALR [endocytic vesicle lumen] (R-HSA-2239448)	0.613	5
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	9
UniProt:P14136 GFAP	3	GFAP [lysosomal membrane] (R-HSA-9625195) p-GFAP [lysosomal membrane] (R-HSA-9626054) GFAP [cytosol] (R-HSA-1253311)	0.556	3
UniProt:P08670 VIM	11	VIM(86-466) [cytosol] (R-HSA-350294) VIM(2-85) [cytosol] (R-HSA-350264) VIM(430-466) [cytosol] (R-HSA-350316) VIM(2-429) [cytosol] (R-HSA-350317) VIM(260-466) [cytosol] (R-HSA-350314) VIM(2-259) [cytosol] (R-HSA-350323) VIM [cytosol] (R-HSA-201600) Vimentin [late endosome lumen] (R-HSA-9660019) Vimentin [microtubule organizing center] (R-HSA-9657898) Vimentin [cytosol] (R-HSA-9646687) Vimentin [lysosomal lumen] (R-HSA-9659977)	0.556	3
UniProt:Q53GS7 GLE1	1	GLE1 [nucleoplasm] (R-HSA-8932905)	0.556	3
UniProt:P06396 GSN	7	GSN [ficolin-1-rich granule lumen] (R-HSA-6801465) GSN(200-270) [extracellular region] (R-HSA-976940) GSN [extracellular region] (R-HSA-6806510) GSN [secretory granule lumen] (R-HSA-6801486) GSN(404-782) [cytosol] (R-HSA-350272) GSN(28-403) [cytosol] (R-HSA-201618) GSN [cytosol] (R-HSA-350275)	0.556	3
UniProt:P19404 NDUFV2	1	NDUFV2 [mitochondrial inner membrane] (R-HSA-163939)	0.556	3
UniProt:P16284 PECAM1	4	p-Y663,Y686-PECAM1(27-?) [plasma membrane] (R-HSA-210007) PECAM1 [plasma membrane] (R-HSA-114686) PECAM1 [secretory granule membrane] (R-HSA-6804778) PECAM1 [platelet alpha granule membrane] (R-HSA-61489)	0.556	3
UniProt:O75376 NCOR1	2	NCOR1 [cytosol] (R-HSA-1253310) NCOR1 [nucleoplasm] (R-HSA-442501)	0.524	3
UniProt:Q8K1P7 Smarca4	2	Smarca4 [nucleoplasm] (R-RNO-201686) Smarca4 [nucleoplasm] (R-RNO-9614783)	0.499	2
UniProt:Q00059 TFAM	2	TFAM(1-246) [cytosol] (R-HSA-1592203) TFAM [mitochondrial matrix] (R-HSA-163312)	0.462	3
UniProt:P51991 HNRNPA3	1	HNRNPA3 [nucleoplasm] (R-HSA-71931)	0.462	4
UniProt:P07237 P4HB	3	HC53,56-P4HB [endoplasmic reticulum lumen] (R-HSA-3341287) P4HB [endoplasmic reticulum lumen] (R-HSA-174692) p-P4HB [endoplasmic reticulum lumen] (R-HSA-8956902)	0.462	4
UniProt:P22061 PCMT1	1	PCMT1 [cytosol] (R-HSA-5676580)	0.462	4
UniProt:P14625 HSP90B1	4	HSP90B1 [extracellular region] (R-HSA-3221653) HSP90B1 [endocytic vesicle lumen] (R-HSA-3221623) p-HSP90B1 [endoplasmic reticulum lumen] (R-HSA-8957016) HSP90B1 [endoplasmic reticulum lumen] (R-HSA-981545)	0.462	4
UniProt:P55735 SEC13	4	SEC13 [ER to Golgi transport vesicle membrane] (R-HSA-204012) SEC13 [cytosol] (R-HSA-203981) SEC13 [endoplasmic reticulum membrane] (R-HSA-203994) SEC13 [lysosomal membrane] (R-HSA-9638246)	0.462	4
UniProt:O43819 SCO2	1	SCO2 [mitochondrial matrix] (R-HSA-5336150)	0.462	3
UniProt:Q9Y4L1 HYOU1	3	HYOU1 [extracellular region] (R-HSA-3221939) HYOU1 [endocytic vesicle lumen] (R-HSA-3221924) HYOU1 [endoplasmic reticulum lumen] (R-HSA-535542)	0.462	4
UniProt:P30101 PDIA3	3	PDIA3 [recycling endosome membrane] (R-HSA-8863849) PDIA3 [phagocytic vesicle] (R-HSA-1236870) PDIA3 [endoplasmic reticulum lumen] (R-HSA-901028)	0.462	4
UniProt:Q07666 KHDRBS1	3	p-Y435,Y440,Y443-KHDRBS1 [cytosol] (R-HSA-8848995) p-Y435,Y440,Y443-KHDRBS1 [nucleoplasm] (R-HSA-8848970) KHDRBS1 [nucleoplasm] (R-HSA-8848941)	0.462	4
UniProt:P05412 JUN	4	p-S63,S73-JUN [nucleoplasm] (R-HSA-450237) JUN [nucleoplasm] (R-HSA-450250) JUN [cytosol] (R-HSA-168194) p-S63,S73-JUN [cytosol] (R-HSA-8868682)	0.462	2
UniProt:O43852 CALU	3	p-CALU [endoplasmic reticulum lumen] (R-HSA-8956931) CALU [endoplasmic reticulum lumen] (R-HSA-350695) CALU [extracellular region] (R-HSA-350739)	0.462	4
UniProt:Q96PK6 RBM14	1	RBM14 [nucleoplasm] (R-HSA-8938345)	0.462	3

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