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_PM_s_at

212167_s_at

228898_PM_s_at

228898_s_at

229719_PM_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:0000278

GO:0000776

GO:0000785

GO:0001164

GO:0001188

GO:0001650

GO:0001741

GO:0001824

GO:0001835

GO:0002039

GO:0002376

GO:0003674

GO:0003677

GO:0003712

GO:0003713

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005694

GO:0005730

GO:0006259

GO:0006325

GO:0006337

GO:0006338

GO:0006357

GO:0006464

GO:0006950

GO:0007049

GO:0007059

GO:0007155

GO:0007165

GO:0007399

GO:0008134

GO:0008150

GO:0008283

GO:0008285

GO:0009058

GO:0009790

GO:0015074

GO:0016363

GO:0016514

GO:0016586

GO:0022607

GO:0030071

GO:0030154

GO:0030957

GO:0031492

GO:0032991

GO:0034641

GO:0035060

GO:0039692

GO:0042592

GO:0042802

GO:0043226

GO:0043231

GO:0043923

GO:0044403

GO:0045582

GO:0045597

GO:0045663

GO:0045944

GO:0048856

GO:0051091

GO:0051276

GO:0065003

GO:0070316

GO:0071564

GO:0071565

GO:0090240

GO:0140014

GO:0140092

GO:1900110

GO:1900113

GO:1901838

GO:1902459

GO:1902661

GO:2000045

GO:2000617

GO:2000781

GO:2000819

HMNXSV003028039

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

Participates

as a component of

SMARCA2,SMARCA4:SMARCB1:SMARCC1:SMARCC2 [nucleoplasm] (Homo sapiens)

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)

Ghost homologue of SMARCB1 [nucleoplasm] (Plasmodium falciparum)

SMARCB1 [nucleoplasm] (Bos taurus)

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

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

PRO

Q12824

Pharos - Targets

Q12824

Orphanet

15526

PDB

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

Interactors (14)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P51532 SMARCA4	1	SMARCA4 [nucleoplasm] (R-HSA-201686)	0.941	34
UniProt:Q9NPI1 BRD7	1	BRD7 [nucleoplasm] (R-HSA-3222092)	0.671	8
UniProt:P08670 VIM	11	VIM(2-85) [cytosol] (R-HSA-350264) VIM(86-466) [cytosol] (R-HSA-350294) 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)	0.666	4
UniProt:P14136 GFAP	3	p-GFAP [lysosomal membrane] (R-HSA-9626054) GFAP [lysosomal membrane] (R-HSA-9625195) GFAP [cytosol] (R-HSA-1253311)	0.666	4
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)	0.594	5
UniProt:P16284 PECAM1	4	PECAM1 [plasma membrane] (R-HSA-114686) PECAM1 [secretory granule membrane] (R-HSA-6804778) p-Y663,Y686-PECAM1(27-?) [plasma membrane] (R-HSA-210007) PECAM1 [platelet alpha granule membrane] (R-HSA-61489)	0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	9
UniProt:P19404 NDUFV2	1	NDUFV2 [mitochondrial inner membrane] (R-HSA-163939)	0.556	3
UniProt:P06396 GSN	7	GSN(200-270) [extracellular region] (R-HSA-976940) GSN [secretory granule lumen] (R-HSA-6801486) GSN [extracellular region] (R-HSA-6806510) GSN [ficolin-1-rich granule lumen] (R-HSA-6801465) GSN(404-782) [cytosol] (R-HSA-350272) GSN(28-403) [cytosol] (R-HSA-201618) GSN [cytosol] (R-HSA-350275)	0.556	3
UniProt:Q53GS7 GLE1	1	GLE1 [nucleoplasm] (R-HSA-8932905)	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-9614783) Smarca4 [nucleoplasm] (R-RNO-201686)	0.499	2
UniProt:P48431 SOX2	1	SOX2 [nucleoplasm] (R-HSA-452271)	0.483	2
UniProt:P05412 JUN	4	JUN [nucleoplasm] (R-HSA-450250) p-S63,S73-JUN [nucleoplasm] (R-HSA-450237) JUN [cytosol] (R-HSA-168194) p-S63,S73-JUN [cytosol] (R-HSA-8868682)	0.462	2