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Protein Page:
SMN (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
SMN The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2). SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3). SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4). SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk. Belongs to the SMN family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: RNA processing; RNA binding protein
Reference #:  Q16637 (UniProtKB)
Alt. Names/Synonyms: BCD541; Component of gems 1; gemin 1; Gemin-1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMN1; SMN2; SMNC; SMNT; Survival motor neuron protein; survival of motor neuron 1, telomeric; T-BCD541
Gene Symbols: SMN1
Molecular weight: 31,849 Da
Basal Isoelectric point: 6.13  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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SMN

Protein Structure Not Found.


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Sites Implicated In
activity, induced: S28‑p, S31‑p
molecular association, regulation: S28‑p, S31‑p

Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
1 7 S4-p ____MAMssGGsGGG
1 11 S5-p ___MAMssGGsGGGV
1 9 S8-p MAMssGGsGGGVPEQ
0 8 P13 GGsGGGVPEQEDsVL
0 4 S18-p GVPEQEDsVLFRRGt
0 42 T25-p sVLFRRGtGQsDDsD
2 73 S28-p FRRGtGQsDDsDIWD
2 68 S31-p GtGQsDDsDIWDDtA
0 2 T37-p DsDIWDDtALIkAyD
0 3 K41-ub WDDtALIkAyDkAVA
0 11 Y43-p DtALIkAyDkAVASF
0 1 K45-ac ALIkAyDkAVASFkH
0 1 K51-ub DkAVASFkHALKNGD
0 5 T62-p KNGDICEtsGKPKtt
0 1 S63-p NGDICEtsGKPKttP
0 2 T68-p EtsGKPKttPKRKPA
0 2 T69-p tsGKPKttPKRKPAK
0 1 S80-p KPAKKNKsQKKNtAA
1 4 T85-p NKsQKKNtAAsLQQW
0 4 S88-p QKKNtAAsLQQWKVG
0 2 Y109-p WSEDGCIyPATIASI
0 3 K119-ac TIASIDFkRETCVVV
0 2 Y127-p RETCVVVyTGyGNRE
0 2 Y130-p CVVVyTGyGNREEQN
0 1 S180-p SRSPGNKsDNIkPks
0 1 K184-ub GNKsDNIkPksAPWN
0 1 K186-ub KsDNIkPksAPWNsF
1 1 S187-p sDNIkPksAPWNsFL
0 1 S192-p PksAPWNsFLPPPPP
0 1 R204-m1 PPPMPGPrLGPGkPG
0 7 K209-ub GPrLGPGkPGLKFNG
0 3 K213 GPGkPGLKFNGPPPP
  SMN iso3  
S4 ____MAMSSGGSGGG
S5 ___MAMSSGGSGGGV
S8 MAMSSGGSGGGVPEQ
P13 GGSGGGVPEQEDSVL
S18 GVPEQEDSVLFRRGT
T25 SVLFRRGTGQSDDSD
S28 FRRGTGQSDDSDIWD
S31 GTGQSDDSDIWDDTA
T37 DSDIWDDTALIKAYD
K41 WDDTALIKAYDKAVA
Y43 DTALIKAYDKAVASF
K45 ALIKAYDKAVASFKH
K51 DKAVASFKHALKNGD
T62 KNGDICETSGKPKTT
S63 NGDICETSGKPKTTP
T68 ETSGKPKTTPKRKPA
T69 TSGKPKTTPKRKPAK
S80 KPAKKNKSQKKNTAA
T85 NKSQKKNTAASLQQW
S88 QKKNTAASLQQWKVG
Y109 WSEDGCIYPATIASI
K119 TIASIDFKRETCVVV
Y127 RETCVVVYTGYGNRE
Y130 CVVVYTGYGNREEQN
S180 SRSPGNKSDNIKPKS
K184 GNKSDNIKPKSAPWN
K186 KSDNIKPKSAPWNSF
S187 SDNIKPKSAPWNSFL
S192 PKSAPWNSFLPPPPP
R204 PPPMPGPRLGPGKPG
K209 GPRLGPGKPGLKFNG
K213 GPGKPGLKFNGPPPP
  mouse

 
G4 ____MAMGsGGAGsE
S5-p ___MAMGsGGAGsEQ
- gap
S10-p MGsGGAGsEQEDtVL
T15-p AGsEQEDtVLFRRGt
T22-p tVLFRRGtGQsDDsD
S25-p FRRGtGQsDDsDIWD
S28-p GtGQsDDsDIWDDtA
T34-p DsDIWDDtALIKAYD
K38 WDDtALIKAYDKAVA
Y40 DtALIKAYDKAVASF
K42 ALIKAYDKAVASFKH
K48 DKAVASFKHALKNGD
T59-p KNGDICEtPDKPKGT
P60 NGDICEtPDKPKGTA
G65 EtPDKPKGTARRKPA
T66 tPDKPKGTARRKPAK
S77 KPAKKNKSQKKNATT
A82 NKSQKKNATTPLKQW
P85 QKKNATTPLKQWKVG
Y106 WSEDGCIYPATITSI
K116 TITSIDFKRETCVVV
Y124 RETCVVVYTGYGNRE
Y127 CVVVYTGYGNREEQN
S174 HSSRSLRSKAHSKSK
K179 LRSKAHSKSKAAPWT
K181 SKAHSKSKAAPWTSF
A182 KAHSKSKAAPWTSFL
S187 SKAAPWTSFLPPPPP
G199 PPPMPGSGLGPGkPG
K204-ub GSGLGPGkPGLKFNG
K208 GPGkPGLKFNGPPPP
  rat

 
G4 ____MAMGsGGGAGs
S5-p ___MAMGsGGGAGsE
- gap
S11-p GsGGGAGsEQEDTVL
T16 AGsEQEDTVLFRRGt
T23-p TVLFRRGtGQsDDsD
S26-p FRRGtGQsDDsDIWD
S29-p GtGQsDDsDIWDDtA
T35-p DsDIWDDtALIKAYD
K39 WDDtALIKAYDKAVA
Y41 DtALIKAYDKAVASF
K43 ALIKAYDKAVASFKH
K49 DKAVASFKHALKNGD
T60 KNGDMCETSDKPKGT
S61 NGDMCETSDKPKGTA
G66 ETSDKPKGTARRKPA
T67 TSDKPKGTARRKPAK
N78 KPAKKNKNQKKNATA
A83 NKNQKKNATAPLKQW
P86 QKKNATAPLKQWKAG
Y107 WSEDGCVYPATITSV
K117 TITSVDLKRETCVVV
Y125 RETCVVVYTGYGNKE
Y128 CVVVYTGYGNKEEQN
S175 HSSRSLRSKAHSKSK
K180 LRSKAHSKSKAAPWT
K182 SKAHSKSKAAPWTSF
A183 KAHSKSKAAPWTSFL
S188 SKAAPWTSFLPPPPP
G200 PPPVPGAGLGPGKPG
K205 GAGLGPGKPGLrFSG
R209-m1 GPGKPGLrFSGPPPP
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