Sequence Browser (Q16637-1)

UniProt (Ref Seq)
Displayed Structure
Experimental Tertiary/Complex (PDB:XRay/EM)
Experimental Tertiary/Complex (PDB:NMR)
Modelled Tertiary (Phyre)
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1
294
Isoform
Remark
Ref
VSP_006183
Thought to be a non-functional protein that lacks the capacity to oligomerize and thus cannot interact with Sm proteins. Primarily derived from SMN2 gene.
VSP_006184 VSP_006185
Q16637-1  
Primarily derived from SMN1 gene.
VSP_006183 VSP_006184 VSP_006185
Click on Isoform of interest to be redirected to the corresponding page
Type
Variation
Position
splice variant
GFRQ → EMLA
279 - 282
sequence variant
A → G
2
sequence variant
D → V
44
sequence variant
A → G
111
sequence variant
Q → E
136
sequence variant
S → G
262
sequence variant
Y → C
272
sequence variant
G → S
275
sequence variant
G → V
279
splice variant
Missing
210 - 241
splice variant
Missing
283 - 294
sequence variant
D → N
30
sequence variant
G → R
95
sequence variant
I → F
116
sequence variant
P → L
245
sequence variant
S → I
262
sequence variant
T → I
274
sequence variant
G → C
279
mutagenesis site
E → K
134

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Protein:
Other Names:
Component of gems 1, Gemin-1
Primary Accession:
Other Accessions:
A8K0V4, Q13119, Q549U5, Q96J51
Gene :
SMN1*, synonyms (SMN, SMNT)
SMN2, synonyms (SMNC)
Organism :
Human
Entry Name :
Length :
294
Mass (Da) :
31,849
Last modified :
01-Jan-1996
Version :
v1
Isoforms :
4 
Variants :
19 
Interactions :
30 
Structures :
Experimental 8 | Phyre prediction 2

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

With
Entry
IntAct
Exp
BLOC1S6
Q9UL45
EBI-395421, EBI-465781
5
CHTOP
Q9Y3Y2
EBI-395421, EBI-347794
3
CTAG1B
P78358
EBI-395447, EBI-1188472
4
GEMIN2
O14893
EBI-395421, EBI-443648
17
GEMIN8
Q9NWZ8
EBI-395447, EBI-2626001
4
KPNB1
Q14974
EBI-395447, EBI-286758
5
LASP1
Q14847-2
EBI-395447, EBI-9088686
4
MAP3K5
Q99683
EBI-395421, EBI-476263
3
POLR2A
P24928
EBI-395421, EBI-295301
12
PPIG
Q13427
EBI-395421, EBI-396072
4
SETX
Q7Z333
EBI-395421, EBI-1220123
3
SMN2
Q16637-3
EBI-395421, EBI-395447
4
SNRPB
P14678-1
EBI-395447, EBI-372471
3
VPS28
Q548N1
EBI-395421, EBI-10243107
3
Itself
EBI-395421, EBI-395421
15
BYSL
Q13895
EBI-395421, EBI-358049
7
COIL
P38432
EBI-395421, EBI-945751
4
FAM9B
Q8IZU0
EBI-395421, EBI-10175124
7
GEMIN5
Q8TEQ6
EBI-395421, EBI-443630
7
HNRNPUL1
Q9BUJ2
EBI-395421, EBI-1018153
4
KPNB1
Q14974-1
EBI-395421, EBI-15488647
2
LOC401296
A2RU56
EBI-395447, EBI-9088215
4
POLR1C
O15160
EBI-395421, EBI-1055079
7
POP7
O75817
EBI-395421, EBI-366574
5
RUSC1-AS1
Q66K80
EBI-395447, EBI-10248967
4
Smn
Q9VV74
EBI-395421, EBI-185315
2
SNRNP70
P08621
EBI-395421, EBI-1049228
4
UBE2DNL
Q8IWF7
EBI-395447, EBI-2340154
4
VPS28
Q9UK41
EBI-395421, EBI-727424
5
WRAP53
Q9BUR4
EBI-395421, EBI-2563542
5