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:ENSG00000205571 SMN1
ENSEMBL:ENSG00000273772 SMN1
ENSEMBL:ENSG00000275349 SMN1
ENSEMBL:ENSG00000277773 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
0001340088
0002480451
11719500_s_at
11722657_x_at
11762978_x_at
16985777
16985823
1G5V
1MHN
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
2LEH
37313_at
45271
4A4E
4A4G
4GLI
4QQ6
5XJL
5XJQ
5XJR
5XJS
5XJT
5XJU
6606
6607
69888
8105958
8106006
8177647
9344
A0A1W2PRV5
A_23_P58466
A_24_P126682
AAA64505
AAA66242
AAC50473
AAC52048
AAC62262
AAC83178
AAH00908
AAH15308
AAH62723
AAH70242
AC004999
AC005031
AK289669
B4DP61
BAF82358
BC000908
BC015308
BC062723
BC070242
CAB009344
CAB069888
CCDS34181
CCDS34182
CCDS4007
CCDS4008
CCDS54867
CCDS75256
E7EQZ4
ENSG00000172062
ENSG00000205571
ENSG00000273772
ENSG00000275349
ENSG00000277773
ENSP00000305857
ENSP00000370083
ENSP00000370117
ENSP00000370118
ENSP00000370119
ENSP00000424926
ENSP00000428128
ENSP00000479279
ENSP00000479920
ENSP00000480906
ENSP00000481427
ENSP00000482966
ENSP00000483515
ENSP00000483768
ENSP00000483819
ENSP00000485595
ENSP00000486152
ENSP00000487015
ENSP00000487029
ENSP00000487206
ENSP00000487421
ENST00000351205
ENST00000351205.8
ENST00000380707
ENST00000380707.8
ENST00000380741
ENST00000380741.8
ENST00000380742
ENST00000380742.8
ENST00000380743
ENST00000380743.8
ENST00000503079
ENST00000503079.6
ENST00000506163
ENST00000506163.5
ENST00000611442
ENST00000614240
ENST00000614240.4
ENST00000614610
ENST00000614773
ENST00000618251
ENST00000618661
ENST00000622158
ENST00000622739
ENST00000624634
ENST00000626847
ENST00000626847.2
ENST00000627341
ENST00000628353
ENST00000628642
ENST00000629122
EntrezGene:6606
EntrezGene:6607
EntrezGene:SMN1
EntrezGene:SMN2
g13259515_3p_s_at
GE80078
GO:0000245
GO:0000387
GO:0003674
GO:0003723
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0006353
GO:0006397
GO:0006810
GO:0006913
GO:0007399
GO:0008150
GO:0008380
GO:0009058
GO:0015030
GO:0016604
GO:0022607
GO:0022618
GO:0030018
GO:0030424
GO:0032797
GO:0032991
GO:0034641
GO:0034719
GO:0036464
GO:0042802
GO:0042995
GO:0043005
GO:0043204
GO:0043226
GO:0048856
GO:0051170
GO:0065003
GO:0097504
H0YBZ9
HGNC:11117
HGNC:11118
HPA045271
ILMN_1665022
ILMN_1675609
ILMN_1695805
ILMN_2336393
ILMN_2351902
ILMN_3214945
ILMN_3215206
ILMN_3291715
IPR002999
IPR010304
LRG_676
LRG_676t1
MIM:253300
MIM:253400
MIM:253550
MIM:271150
MIM:600354
MIM:601627
NM_000344
NM_001297715
NM_017411
NM_022874
NM_022875
NM_022876
NM_022877
NP_000335
NP_001284644
NP_059107
NP_075012
NP_075013
NP_075014
NP_075015
PF06003
PH_hs_0029643
PH_hs_0032522
SM00333
SMN1
SMN1-201
SMN1-202
SMN1-203
SMN1-204
SMN1-213
SMN1-214
SMN1-218
SMN1-219
SMN2
SMN2-201
SMN2-202
SMN2-203
SMN2-213
SMN2-214
SMN2-218
SMN2-219
SMN2-224
SMN2-226
SMN2-228
SMN2-232
SMN2-233
SMN2-238
TC05000317.hg
TC05000326.hg
TC05002424.hg
U18423
U21914
U43876
U43877
U43878
U43880
U43881
U43882
U43883
U80017
U80017_rna3_at
UPI00000000BB
UPI000002B3D7
UPI000002B3D8
XM_011543601
XM_011543602
XM_011543603
XM_017009786
XP_011541903
XP_011541904
XP_011541905
XP_016865275
Participant Of
hasComponent
Other forms of this molecule
SMN1 [cytosol]
Inferred To
Smn1 [nucleoplasm] (Mus musculus)
Smn1 [nucleoplasm] (Rattus norvegicus)
SMN [nucleoplasm] (Canis familiaris)
SMN [nucleoplasm] (Gallus gallus)
SMN1 [nucleoplasm] (Bos taurus)
SMN1 [nucleoplasm] (Sus scrofa)
smn1 [nucleoplasm] (Danio rerio)
smn1 [nucleoplasm] (Xenopus tropicalis)
Cross References
RefSeq
OpenTargets
GeneCards
HPA
ZINC target
Ensembl
PRO
Orphanet
PDB
Interactors (20)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P62308 SNRPG  2 0.734 4
 UniProt:P62314 SNRPD1  3 0.734 5
 UniProt:Q13895 BYSL  2 0.718 8
 UniProt:Q9UL45 BLOC1S6  1 0.718 6
 UniProt:O15160 POLR1C  2 0.718 6
 UniProt:P14678 SNRPB  4 0.669 4
 UniProt:Q9BUJ2 HNRNPUL1  1 0.666 4
 UniProt:P62317  2 0.561 3
 UniProt:P62315  3 0.561 3
 UniProt:P62320  3 0.561 3
 UniProt:Q9BUR4 WRAP53  2 0.558 5
 UniProt:Q9Y5V3 MAGED1  1 0.556 3
 UniProt:Q9Y3Y2 CHTOP  1 0.556 3
 UniProt:Q08426 EHHADH  2 0.556 3
 UniProt:P62307  2 0.544 2
 UniProt:Q9NY12 GAR1  1 0.544 2
 UniProt:P62316 SNRPD2  2 0.527 2
 UniProt:P62306 SNRPF  2 0.527 2
 UniProt:Q99683 MAP3K5  1 0.524 3
 UniProt:O14744 PRMT5  3 0.462 2
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