Reactome | SMN1 [nucleoplasm]

SMN1 [nucleoplasm]

Stable Identifier

R-HSA-191892

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

SMN

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q16637 SMN1

Gene Names

SMN1, SMN, SMNT, SMN2, SMNC

Chain

initiator methionine:1, chain:2-294

Reference Genes

BioGPS Gene:6606 SMN1

BioGPS Gene:6607 SMN1

COSMIC (genes):SMN1 SMN1

CTD Gene:6606 SMN1

CTD Gene:6607 SMN1

dbSNP Gene:6606 SMN1

dbSNP Gene:6607 SMN1

ENSEMBL:ENSG00000172062 SMN1

ENSEMBL:ENSG00000172062.17 SMN1

ENSEMBL:ENSG00000205571 SMN1

ENSEMBL:ENSG00000205571.14 SMN1

ENSEMBL:ENSG00000273772.4 SMN1

ENSEMBL:ENSG00000275349.4 SMN1

ENSEMBL:ENSG00000277773.4 SMN1

HGNC:11117 SMN1

HGNC:11118 SMN1

KEGG Gene (Homo sapiens):6606 SMN1

KEGG Gene (Homo sapiens):6607 SMN1

Monarch:6606 SMN1

Monarch:6607 SMN1

NCBI Gene:6606 SMN1

NCBI Gene:6607 SMN1

OMIM:600354 SMN1

OMIM:601627 SMN1

UCSC:Q16637 SMN1

Reference Transcript

Other Identifiers

11719500_s_at

11722657_x_at

11762978_x_at

16985777

16985823

203852_PM_s_at

203852_s_at

2814177

2814178

2814181

2814182

2814183

2814184

2814185

2814186

2814188

2814195

2814196

2814197

2814198

2814199

2814436

2814437

2814440

2814441

2814442

2814443

2814445

2814448

2814452

2814453

2814454

2814455

2814456

2860900

2860901

2860902

2860903

2860904

2860907

2860910

2860911

2860912

2860913

2860914

2860917

2860918

37313_at

6606

6607

8105958

8106006

8177647

A_23_P58466

A_24_P126682

GE80078

GO:0000245

GO:0000387

GO:0003723

GO:0005515

GO:0005634

GO:0005654

GO:0005737

GO:0005829

GO:0006351

GO:0006353

GO:0006397

GO:0007399

GO:0008380

GO:0015030

GO:0016071

GO:0016604

GO:0030018

GO:0030424

GO:0032797

GO:0034719

GO:0036464

GO:0042802

GO:0042995

GO:0043005

GO:0043204

GO:0043226

GO:0048856

GO:0065003

GO:0097504

HMNXSV003017353

ILMN_1665022

ILMN_1675609

ILMN_2336393

ILMN_2351902

PH_hs_0029643

PH_hs_0032522

TC05000317.hg

TC05000326.hg

TC05002424.hg

U80017_rna3_at

g13259515_3p_s_at

p26862

Participates

as a component of

SMN complex [nucleoplasm] (Homo sapiens)

Other forms of this molecule

SMN1 [cytosol]

Inferred To

Smn1 [nucleoplasm] (Mus musculus)

Smn1 [nucleoplasm] (Rattus norvegicus)

SMN [nucleoplasm] (Gallus gallus)

Ghost homologue of SMN1 [nucleoplasm] (Xenopus tropicalis)

SMN1 [nucleoplasm] (Bos taurus)

SMN1 [nucleoplasm] (Canis familiaris)

SMN1 [nucleoplasm] (Sus scrofa)

smn1 [nucleoplasm] (Danio rerio)

Cross References

RefSeq

NP_075013.1, NP_075015.1, NP_075014.1, NP_075012.1, NP_059107.1, XP_016865275.1, NP_001284644.1, NP_000335.1

OpenTargets

ENSG00000172062

HPA

ENSG00000205571-SMN2, ENSG00000172062-SMN1

GeneCards

Q16637

ZINC target

Q16637

Ensembl

ENSG00000277773, ENSP00000424926, ENST00000380743, ENST00000380707, ENST00000618661, ENST00000614240, ENST00000380742, ENST00000506163, ENSP00000483768, ENSP00000487029, ENSP00000487206, ENSP00000487421, ENST00000626847, ENSP00000486152, ENST00000618251, ENSG00000273772, ENSG00000172062, ENSG00000275349, ENSP00000370083, ENSP00000479920, ENSP00000428128, ENSP00000305857, ENST00000624634, ENSP00000370117, ENST00000622158, ENST00000622739, ENSG00000205571, ENSP00000479279, ENST00000614773, ENSP00000482966, ENSP00000483515, ENST00000627341, ENST00000628353, ENST00000380741, ENSP00000481427, ENST00000629122, ENSP00000370118, ENST00000614610, ENSP00000370119, ENSP00000483819, ENST00000628642, ENSP00000485595, ENST00000351205, ENSP00000480906, ENSP00000487015, ENST00000611442, ENST00000503079

PRO

Q16637

Pharos - Targets

Q16637

Orphanet

15528

PDB

4A4G, 5XJT, 7W2P, 1G5V, 5XJS, 5XJL, 4QQ6, 4A4E, 4GLI, 2LEH, 1MHN, 5XJR, 5XJQ, 5XJU, 7W30

Interactors (28)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P62314 SNRPD1	3	2xMe-SNRPD1 [nucleoplasm] (R-HSA-192215) SNRPD1 [cytosol] (R-HSA-191890) 2xMe-SNRPD1 [cytosol] (R-HSA-192217)	0.793	6
UniProt:P62308 SNRPG	2	SNRPG [nucleoplasm] (R-HSA-71909) SNRPG [cytosol] (R-HSA-191827)	0.734	4
UniProt:Q9UL45 BLOC1S6	1	BLOC1S6 [cytosol] (R-HSA-429816)	0.718	6
UniProt:O15160 POLR1C	2	POLR1C [nucleoplasm] (R-HSA-63498) POLR1C [cytosol] (R-HSA-1964454)	0.718	6
UniProt:Q13895 BYSL	2	BYSL [nucleoplasm] (R-HSA-6791526) BYSL [cytosol] (R-HSA-6791518)	0.718	8
UniProt:P14678 SNRPB	4	Me2-R108,R112-SNRPB [nucleoplasm] (R-HSA-192213) SNRPB [nucleoplasm] (R-HSA-71896) SNRPB [cytosol] (R-HSA-191798) 2xMe-SNRPB [cytosol] (R-HSA-192218)	0.669	4
UniProt:Q13427 PPIG	2	PPIG [cytosol] (R-HSA-9728768) PPIG [nucleoplasm] (R-HSA-9769592)	0.666	4
UniProt:P62306 SNRPF	2	SNRPF [nucleoplasm] (R-HSA-71907) SNRPF [cytosol] (R-HSA-191852)	0.643	3
UniProt:P62316 SNRPD2	2	SNRPD2 [nucleoplasm] (R-HSA-71901) SNRPD2 [cytosol] (R-HSA-191810)	0.643	3
UniProt:P62317	2	Snrpd2 [nucleoplasm] (R-MMU-71901) Snrpd2 [cytosol] (R-MMU-191810)	0.561	3
UniProt:P62315	3	Snrpd1 [nucleoplasm] (R-MMU-192215) Snrpd1 [cytosol] (R-MMU-191890) Snrpd1 [cytosol] (R-MMU-192217)	0.561	3
UniProt:P62320	3	Snrpd3 [nucleoplasm] (R-MMU-192219) Snrpd3 [nucleoplasm] (R-MMU-71903) Snrpd3 [cytosol] (R-MMU-191781)	0.561	3
UniProt:Q9BUR4 WRAP53	2	WRAP53 [nucleoplasm] (R-HSA-418386) Unfolded WRAP53 [cytosol] (R-HSA-6813830)	0.558	5
UniProt:O75925 PIAS1	1	PIAS1 [nucleoplasm] (R-HSA-877307)	0.556	3
UniProt:Q96GX9 APIP	1	APIP [cytosol] (R-HSA-1237171)	0.556	3
UniProt:P09017 HOXC4	1	HOXC4 [nucleoplasm] (R-HSA-5617871)	0.556	3
UniProt:Q96FZ7 CHMP6	2	CHMP6 [endosome membrane] (R-HSA-9631195) CHMP6 [cytosol] (R-HSA-917736)	0.556	3
UniProt:Q9Y3Y2 CHTOP	1	CHTOP [nucleoplasm] (R-HSA-8849147)	0.556	3
UniProt:Q08426 EHHADH	2	EHHADH [peroxisomal matrix] (R-HSA-400155) EHHADH [cytosol] (R-HSA-9033147)	0.556	3
UniProt:Q9Y5V3 MAGED1	1	MAGED1 [cytosol] (R-HSA-196002)	0.556	3
UniProt:Q9Y3C7 MED31	1	MED31 [nucleoplasm] (R-HSA-212429)	0.547	2
UniProt:P62307	2	Snrpf [nucleoplasm] (R-MMU-71907) Snrpf [cytosol] (R-MMU-191852)	0.544	2
UniProt:Q9NY12 GAR1	1	GAR1 [nucleoplasm] (R-HSA-6790707)	0.544	2
UniProt:P62304 SNRPE	2	SNRPE [nucleoplasm] (R-HSA-71905) SNRPE [cytosol] (R-HSA-191782)	0.527	2
UniProt:Q9Y3F4 STRAP	1	STRAP [cytosol] (R-HSA-2127556)	0.527	2
UniProt:Q99683 MAP3K5	1	MAP3K5 [cytosol] (R-HSA-167709)	0.524	3
UniProt:Q9UBB5 MBD2	1	MBD2 [nucleoplasm] (R-HSA-427367)	0.508	2
UniProt:O14744 PRMT5	3	p-Y297,304,307-PRMT5 [nucleoplasm] (R-HSA-5211300) PRMT5 [nucleoplasm] (R-HSA-5205609) PRMT5 [cytosol] (R-HSA-191876)	0.462	2

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