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Protein

Survival motor neuron protein

Gene

SMN1

more
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).4 Publications

GO - Molecular functioni

GO - Biological processi

  • DNA-templated transcription, termination Source: UniProtKB
  • nervous system development Source: UniProtKB-KW
  • nuclear import Source: Reactome
  • spliceosomal complex assembly Source: UniProtKB
  • spliceosomal snRNP assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing, Neurogenesis

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-191859. snRNP Assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Survival motor neuron protein
Alternative name(s):
Component of gems 1
Gemin-1
Gene namesi
Name:SMN1
Synonyms:SMN, SMNT
AND
Name:SMN2
Synonyms:SMNC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:11117. SMN1.
HGNC:11118. SMN2.

Subcellular locationi

GO - Cellular componenti

  • Cajal body Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoplasmic ribonucleoprotein granule Source: UniProtKB
  • cytosol Source: UniProtKB
  • Gemini of coiled bodies Source: UniProtKB
  • neuron projection Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • perikaryon Source: UniProtKB
  • SMN complex Source: UniProtKB
  • SMN-Sm protein complex Source: UniProtKB
  • Z disc Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinal muscular atrophy 1 (SMA1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinal muscular atrophy, a group of neuromuscular disorder 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.
See also OMIM:253300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161I → F in SMA1. 1 Publication
Corresponds to variant rs104893933 [ dbSNP | Ensembl ].
VAR_034807
Natural varianti136 – 1361Q → E in SMA1. 1 Publication
Corresponds to variant rs104893934 [ dbSNP | Ensembl ].
VAR_034808
Natural varianti272 – 2721Y → C in SMA1; abolishes SMN binding to RPP20/POP7. 4 Publications
Corresponds to variant rs104893922 [ dbSNP | Ensembl ].
VAR_005617
Natural varianti279 – 2791G → V in SMA1; slightly reduces SMN binding to RPP20/POP7. 2 Publications
Corresponds to variant rs76163360 [ dbSNP | Ensembl ].
VAR_005620
Spinal muscular atrophy 2 (SMA2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.
See also OMIM:253550
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → G in SMA2 and SMA3. 1 Publication
Corresponds to variant rs75030631 [ dbSNP | Ensembl ].
VAR_005615
Natural varianti30 – 301D → N in SMA2. 1 Publication
Corresponds to variant rs104893930 [ dbSNP | Ensembl ].
VAR_034803
Natural varianti111 – 1111A → G in SMA2; reduces SMN binding to Sm proteins. 1 Publication
Corresponds to variant rs104893935 [ dbSNP | Ensembl ].
VAR_034806
Natural varianti274 – 2741T → I in SMA2 and SMA3; reduces SMN binding to RPP20/POP7. 3 Publications
Corresponds to variant rs76871093 [ dbSNP | Ensembl ].
VAR_005618
Natural varianti279 – 2791G → C in SMA2 and SMA3. 1 Publication
VAR_007990
Spinal muscular atrophy 3 (SMA3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood.
See also OMIM:253400
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → G in SMA2 and SMA3. 1 Publication
Corresponds to variant rs75030631 [ dbSNP | Ensembl ].
VAR_005615
Natural varianti44 – 441D → V in SMA3. 1 Publication
Corresponds to variant rs104893931 [ dbSNP | Ensembl ].
VAR_034804
Natural varianti95 – 951G → R in SMA3; reduces SMN binding to Sm proteins. 1 Publication
Corresponds to variant rs104893927 [ dbSNP | Ensembl ].
VAR_034805
Natural varianti245 – 2451P → L in SMA3. 1 Publication
VAR_010051
Natural varianti262 – 2621S → G in SMA3. 1 Publication
Corresponds to variant rs104893932 [ dbSNP | Ensembl ].
VAR_034809
Natural varianti262 – 2621S → I in SMA3; slightly reduces SMN binding to RPP20/POP7. 2 Publications
Corresponds to variant rs75660264 [ dbSNP | Ensembl ].
VAR_005616
Natural varianti274 – 2741T → I in SMA2 and SMA3; reduces SMN binding to RPP20/POP7. 3 Publications
Corresponds to variant rs76871093 [ dbSNP | Ensembl ].
VAR_005618
Natural varianti275 – 2751G → S in SMA3. 1 Publication
VAR_005619
Natural varianti279 – 2791G → C in SMA2 and SMA3. 1 Publication
VAR_007990
Spinal muscular atrophy 4 (SMA4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk.
See also OMIM:271150

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi134 – 1341E → K: Reduces SMN binding to RPP20/POP7. 1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MalaCardsiSMN1.
SMN2.
MIMi253300. phenotype.
253400. phenotype.
253550. phenotype.
271150. phenotype.
Orphaneti83330. Proximal spinal muscular atrophy type 1.
83418. Proximal spinal muscular atrophy type 2.
83419. Proximal spinal muscular atrophy type 3.
83420. Proximal spinal muscular atrophy type 4.
PharmGKBiPA35967.

Chemistry

ChEMBLiCHEMBL1293232.

Polymorphism and mutation databases

DMDMi2498924.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 294293Survival motor neuron proteinPRO_0000218903Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei4 – 41Phosphoserine; by PKACombined sources1 Publication
Modified residuei5 – 51Phosphoserine; by PKACombined sources1 Publication
Modified residuei8 – 81Phosphoserine; by PKACombined sources1 Publication
Modified residuei25 – 251PhosphothreonineCombined sources
Modified residuei28 – 281PhosphoserineCombined sources
Modified residuei31 – 311PhosphoserineCombined sources
Modified residuei69 – 691PhosphothreonineCombined sources
Modified residuei85 – 851Phosphothreonine; by PKA1 Publication
Modified residuei187 – 1871Phosphoserine; by PKA1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ16637.
MaxQBiQ16637.
PaxDbiQ16637.
PeptideAtlasiQ16637.
PRIDEiQ16637.

PTM databases

iPTMnetiQ16637.
PhosphoSiteiQ16637.

Expressioni

Tissue specificityi

Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000172062.
CleanExiHS_SMN1.
HS_SMN2.
ExpressionAtlasiQ16637. baseline and differential.
GenevisibleiQ16637. HS.

Organism-specific databases

HPAiCAB009344.
CAB016324.
HPA045271.

Interactioni

Subunit structurei

Homodimer (PubMed:14715275). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:12065586, PubMed:18984161). Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259 (PubMed:12095920). Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3 (PubMed:11574476, PubMed:12095920). Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7 (PubMed:11551898, PubMed:12975319, PubMed:16087681, PubMed:14715275). Interacts (via C-terminal region) with ZPR1 (via C-terminal region) (PubMed:11283611). Interacts (via Tudor domain) with COIL (PubMed:11641277). Interacts with SETX; recruits SETX to POLR2A (PubMed:21700224, PubMed:26700805). Interacts with POLR2A (via the C-terminal domain (CTD)) (PubMed:26700805). Interacts with PRMT5 (PubMed:26700805). Interacts with XRN2 (PubMed:26700805). Interacts (via C-terminus) with FMR1 (via C-terminus); the interaction is direct and occurs in a RNA-independent manner (PubMed:18093976).14 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself7EBI-395421,EBI-395421
BLOC1S6Q9UL453EBI-395421,EBI-465781
BYSLQ138955EBI-395421,EBI-358049
CHTOPQ9Y3Y23EBI-395421,EBI-347794
FAM9BQ8IZU05EBI-395421,EBI-10175124
GEMIN2O1489313EBI-395421,EBI-443648
GEMIN5Q8TEQ67EBI-395421,EBI-443630
HNRNPUL1Q9BUJ24EBI-395421,EBI-1018153
KPNB1Q149745EBI-395447,EBI-286758
MAP3K5Q996833EBI-395421,EBI-476263
POLR1CO151603EBI-395421,EBI-1055079
POP7O758175EBI-395421,EBI-366574
PPIGQ134274EBI-395421,EBI-396072
SmnQ9VV742EBI-395421,EBI-185315From a different organism.
SNRPBP14678-13EBI-395447,EBI-372471
VPS28Q548N13EBI-395421,EBI-10243107

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi112490. 195 interactions.
112491. 33 interactions.
DIPiDIP-31309N.
IntActiQ16637. 156 interactions.
MINTiMINT-95544.
STRINGi9606.ENSP00000370119.

Structurei

Secondary structure

1
294
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi38 – 4710Combined sources
Beta strandi53 – 586Combined sources
Beta strandi60 – 634Combined sources
Turni87 – 904Combined sources
Beta strandi97 – 1015Combined sources
Turni103 – 1053Combined sources
Beta strandi108 – 11710Combined sources
Turni118 – 1214Combined sources
Beta strandi122 – 1276Combined sources
Turni128 – 1303Combined sources
Beta strandi133 – 1375Combined sources
Helixi138 – 1403Combined sources
Beta strandi160 – 1623Combined sources
Beta strandi185 – 1873Combined sources
Beta strandi213 – 2153Combined sources
Turni249 – 2513Combined sources
Beta strandi253 – 2553Combined sources
Turni256 – 2605Combined sources
Helixi263 – 28018Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1G5VNMR-A82-169[»]
1MHNX-ray1.80A89-147[»]
2LEHNMR-B26-51[»]
3S6NX-ray2.50M26-62[»]
4A4ENMR-A84-147[»]
4A4GNMR-A84-147[»]
4GLIX-ray1.90A263-294[»]
4NL6X-ray5.50A/B/C1-294[»]
4NL7X-ray3.00A11-278[»]
4QQ6X-ray1.75A82-147[»]
ProteinModelPortaliQ16637.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16637.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini91 – 15161TudorPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni13 – 4432P1 (binding site for GEMIN2)Add
BLAST
Regioni97 – 209113Required for interaction with RPP20/POP7Add
BLAST
Regioni240 – 26728P2 (binding site for SNRPB)Add
BLAST
Regioni279 – 29416Required for interaction with SYNCRIPAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi195 – 2039Poly-Pro
Compositional biasi217 – 22610Poly-Pro
Compositional biasi244 – 2485Poly-Pro

Domaini

The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.

Sequence similaritiesi

Belongs to the SMN family.Curated
Contains 1 Tudor domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4327. Eukaryota.
ENOG4111ME8. LUCA.
GeneTreeiENSGT00730000111041.
HOGENOMiHOG000232199.
HOVERGENiHBG000211.
InParanoidiQ16637.
KOiK13129.
OMAiTTPLKQW.
OrthoDBiEOG091G0OJK.
PhylomeDBiQ16637.
TreeFamiTF318390.

Family and domain databases

InterProiIPR010304. Survival_motor_neuron.
IPR002999. Tudor.
[Graphical view]
PfamiPF06003. SMN. 1 hit.
[Graphical view]
SMARTiSM00333. TUDOR. 1 hit.
[Graphical view]
PROSITEiPS50304. TUDOR. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
Isoform SMN (identifier: Q16637-1) [UniParc]FASTAAdd to basket
Also known as: Full-SMN

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF
60 70 80 90 100
KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA
110 120 130 140 150
IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN
160 170 180 190 200
NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPPPPM
210 220 230 240 250
PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP PIIPPPPPIC
260 270 280 290
PDSLDDADAL GSMLISWYMS GYHTGYYMGF RQNQKEGRCS HSLN
Note: Primarily derived from SMN1 gene.
Length:294
Mass (Da):31,849
Last modified:November 1, 1996 - v1
Checksum:i8A9A2A94192DCB9B
GO
Isoform SMN-delta5 (identifier: Q16637-2) [UniParc]FASTAAdd to basket
Also known as: Iso5-SMN

The sequence of this isoform differs from the canonical sequence as follows:
     210-241: Missing.

Show »
Length:262
Mass (Da):28,534
Checksum:iA93E61C77B59FFFC
GO
Isoform SMN-delta7 (identifier: Q16637-3) [UniParc]FASTAAdd to basket
Also known as: Iso7-SMN

The sequence of this isoform differs from the canonical sequence as follows:
     279-282: GFRQ → EMLA
     283-294: Missing.

Note: 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.
Show »
Length:282
Mass (Da):30,450
Checksum:iD79F1C206C884461
GO
Isoform SMN-delta57 (identifier: Q16637-4) [UniParc]FASTAAdd to basket
Also known as: Iso57-SMN

The sequence of this isoform differs from the canonical sequence as follows:
     210-241: Missing.
     279-282: GFRQ → EMLA
     283-294: Missing.

Show »
Length:250
Mass (Da):27,135
Checksum:i6F2EF8FE7D1E4033
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → G in SMA2 and SMA3. 1 Publication
Corresponds to variant rs75030631 [ dbSNP | Ensembl ].
VAR_005615
Natural varianti30 – 301D → N in SMA2. 1 Publication
Corresponds to variant rs104893930 [ dbSNP | Ensembl ].
VAR_034803
Natural varianti44 – 441D → V in SMA3. 1 Publication
Corresponds to variant rs104893931 [ dbSNP | Ensembl ].
VAR_034804
Natural varianti95 – 951G → R in SMA3; reduces SMN binding to Sm proteins. 1 Publication
Corresponds to variant rs104893927 [ dbSNP | Ensembl ].
VAR_034805
Natural varianti111 – 1111A → G in SMA2; reduces SMN binding to Sm proteins. 1 Publication
Corresponds to variant rs104893935 [ dbSNP | Ensembl ].
VAR_034806
Natural varianti116 – 1161I → F in SMA1. 1 Publication
Corresponds to variant rs104893933 [ dbSNP | Ensembl ].
VAR_034807
Natural varianti136 – 1361Q → E in SMA1. 1 Publication
Corresponds to variant rs104893934 [ dbSNP | Ensembl ].
VAR_034808
Natural varianti245 – 2451P → L in SMA3. 1 Publication
VAR_010051
Natural varianti262 – 2621S → G in SMA3. 1 Publication
Corresponds to variant rs104893932 [ dbSNP | Ensembl ].
VAR_034809
Natural varianti262 – 2621S → I in SMA3; slightly reduces SMN binding to RPP20/POP7. 2 Publications
Corresponds to variant rs75660264 [ dbSNP | Ensembl ].
VAR_005616
Natural varianti272 – 2721Y → C in SMA1; abolishes SMN binding to RPP20/POP7. 4 Publications
Corresponds to variant rs104893922 [ dbSNP | Ensembl ].
VAR_005617
Natural varianti274 – 2741T → I in SMA2 and SMA3; reduces SMN binding to RPP20/POP7. 3 Publications
Corresponds to variant rs76871093 [ dbSNP | Ensembl ].
VAR_005618
Natural varianti275 – 2751G → S in SMA3. 1 Publication
VAR_005619
Natural varianti279 – 2791G → C in SMA2 and SMA3. 1 Publication
VAR_007990
Natural varianti279 – 2791G → V in SMA1; slightly reduces SMN binding to RPP20/POP7. 2 Publications
Corresponds to variant rs76163360 [ dbSNP | Ensembl ].
VAR_005620

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei210 – 24132Missing in isoform SMN-delta5 and isoform SMN-delta57. CuratedVSP_006183Add
BLAST
Alternative sequencei279 – 2824GFRQ → EMLA in isoform SMN-delta7 and isoform SMN-delta57. 2 PublicationsVSP_006184
Alternative sequencei283 – 29412Missing in isoform SMN-delta7 and isoform SMN-delta57. 2 PublicationsVSP_006185Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43883
, U43876, U43877, U43878, U43880, U43881, U43882 Genomic DNA. Translation: AAC50473.1.
U18423 mRNA. Translation: AAA66242.1.
U80017 Genomic DNA. Translation: AAC52048.1.
AK289669 mRNA. Translation: BAF82358.1.
AC004999 Genomic DNA. Translation: AAC83178.1.
AC005031 Genomic DNA. Translation: AAC62262.1.
U21914 mRNA. Translation: AAA64505.1.
BC000908 mRNA. Translation: AAH00908.1.
BC015308 mRNA. Translation: AAH15308.1.
BC062723 mRNA. Translation: AAH62723.1.
BC070242 mRNA. Translation: AAH70242.1.
CCDSiCCDS34181.1. [Q16637-1]
CCDS34182.1. [Q16637-2]
CCDS4007.1. [Q16637-1]
CCDS4008.1. [Q16637-2]
CCDS54867.1. [Q16637-3]
CCDS75256.1. [Q16637-3]
PIRiA55477.
RefSeqiNP_000335.1. NM_000344.3. [Q16637-1]
NP_001284644.1. NM_001297715.1. [Q16637-3]
NP_059107.1. NM_017411.3. [Q16637-1]
NP_075012.1. NM_022874.2. [Q16637-2]
NP_075013.1. NM_022875.2. [Q16637-3]
NP_075014.1. NM_022876.2. [Q16637-2]
NP_075015.1. NM_022877.2. [Q16637-4]
UniGeneiHs.202179.
Hs.535788.

Genome annotation databases

EnsembliENST00000351205; ENSP00000305857; ENSG00000172062. [Q16637-1]
ENST00000380707; ENSP00000370083; ENSG00000172062. [Q16637-1]
ENST00000380741; ENSP00000370117; ENSG00000205571. [Q16637-1]
ENST00000380742; ENSP00000370118; ENSG00000205571. [Q16637-2]
ENST00000380743; ENSP00000370119; ENSG00000205571. [Q16637-1]
ENST00000503079; ENSP00000428128; ENSG00000172062. [Q16637-2]
ENST00000506163; ENSP00000424926; ENSG00000172062. [Q16637-3]
ENST00000611442; ENSP00000483768; ENSG00000277773. [Q16637-2]
ENST00000614240; ENSP00000479279; ENSG00000205571. [Q16637-2]
ENST00000614610; ENSP00000479920; ENSG00000273772. [Q16637-1]
ENST00000614773; ENSP00000481427; ENSG00000273772. [Q16637-2]
ENST00000618251; ENSP00000483515; ENSG00000277773. [Q16637-1]
ENST00000618661; ENSP00000483819; ENSG00000277773. [Q16637-1]
ENST00000622158; ENSP00000480906; ENSG00000275349. [Q16637-2]
ENST00000622739; ENSP00000482966; ENSG00000275349. [Q16637-1]
ENST00000624634; ENSP00000485595; ENSG00000277773. [Q16637-2]
ENST00000626847; ENSP00000486152; ENSG00000205571. [Q16637-3]
ENST00000627341; ENSP00000487421; ENSG00000273772. [Q16637-1]
ENST00000628353; ENSP00000487029; ENSG00000275349. [Q16637-3]
ENST00000628642; ENSP00000487015; ENSG00000273772. [Q16637-3]
ENST00000629122; ENSP00000487206; ENSG00000275349. [Q16637-1]
GeneIDi6606.
6607.
KEGGihsa:6606.
hsa:6607.
UCSCiuc003jyd.4. human. [Q16637-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43883
, U43876, U43877, U43878, U43880, U43881, U43882 Genomic DNA. Translation: AAC50473.1.
U18423 mRNA. Translation: AAA66242.1.
U80017 Genomic DNA. Translation: AAC52048.1.
AK289669 mRNA. Translation: BAF82358.1.
AC004999 Genomic DNA. Translation: AAC83178.1.
AC005031 Genomic DNA. Translation: AAC62262.1.
U21914 mRNA. Translation: AAA64505.1.
BC000908 mRNA. Translation: AAH00908.1.
BC015308 mRNA. Translation: AAH15308.1.
BC062723 mRNA. Translation: AAH62723.1.
BC070242 mRNA. Translation: AAH70242.1.
CCDSiCCDS34181.1. [Q16637-1]
CCDS34182.1. [Q16637-2]
CCDS4007.1. [Q16637-1]
CCDS4008.1. [Q16637-2]
CCDS54867.1. [Q16637-3]
CCDS75256.1. [Q16637-3]
PIRiA55477.
RefSeqiNP_000335.1. NM_000344.3. [Q16637-1]
NP_001284644.1. NM_001297715.1. [Q16637-3]
NP_059107.1. NM_017411.3. [Q16637-1]
NP_075012.1. NM_022874.2. [Q16637-2]
NP_075013.1. NM_022875.2. [Q16637-3]
NP_075014.1. NM_022876.2. [Q16637-2]
NP_075015.1. NM_022877.2. [Q16637-4]
UniGeneiHs.202179.
Hs.535788.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1G5VNMR-A82-169[»]
1MHNX-ray1.80A89-147[»]
2LEHNMR-B26-51[»]
3S6NX-ray2.50M26-62[»]
4A4ENMR-A84-147[»]
4A4GNMR-A84-147[»]
4GLIX-ray1.90A263-294[»]
4NL6X-ray5.50A/B/C1-294[»]
4NL7X-ray3.00A11-278[»]
4QQ6X-ray1.75A82-147[»]
ProteinModelPortaliQ16637.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112490. 195 interactions.
112491. 33 interactions.
DIPiDIP-31309N.
IntActiQ16637. 156 interactions.
MINTiMINT-95544.
STRINGi9606.ENSP00000370119.

Chemistry

ChEMBLiCHEMBL1293232.

PTM databases

iPTMnetiQ16637.
PhosphoSiteiQ16637.

Polymorphism and mutation databases

DMDMi2498924.

Proteomic databases

EPDiQ16637.
MaxQBiQ16637.
PaxDbiQ16637.
PeptideAtlasiQ16637.
PRIDEiQ16637.

Protocols and materials databases

DNASUi6606.
6607.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351205; ENSP00000305857; ENSG00000172062. [Q16637-1]
ENST00000380707; ENSP00000370083; ENSG00000172062. [Q16637-1]
ENST00000380741; ENSP00000370117; ENSG00000205571. [Q16637-1]
ENST00000380742; ENSP00000370118; ENSG00000205571. [Q16637-2]
ENST00000380743; ENSP00000370119; ENSG00000205571. [Q16637-1]
ENST00000503079; ENSP00000428128; ENSG00000172062. [Q16637-2]
ENST00000506163; ENSP00000424926; ENSG00000172062. [Q16637-3]
ENST00000611442; ENSP00000483768; ENSG00000277773. [Q16637-2]
ENST00000614240; ENSP00000479279; ENSG00000205571. [Q16637-2]
ENST00000614610; ENSP00000479920; ENSG00000273772. [Q16637-1]
ENST00000614773; ENSP00000481427; ENSG00000273772. [Q16637-2]
ENST00000618251; ENSP00000483515; ENSG00000277773. [Q16637-1]
ENST00000618661; ENSP00000483819; ENSG00000277773. [Q16637-1]
ENST00000622158; ENSP00000480906; ENSG00000275349. [Q16637-2]
ENST00000622739; ENSP00000482966; ENSG00000275349. [Q16637-1]
ENST00000624634; ENSP00000485595; ENSG00000277773. [Q16637-2]
ENST00000626847; ENSP00000486152; ENSG00000205571. [Q16637-3]
ENST00000627341; ENSP00000487421; ENSG00000273772. [Q16637-1]
ENST00000628353; ENSP00000487029; ENSG00000275349. [Q16637-3]
ENST00000628642; ENSP00000487015; ENSG00000273772. [Q16637-3]
ENST00000629122; ENSP00000487206; ENSG00000275349. [Q16637-1]
GeneIDi6606.
6607.
KEGGihsa:6606.
hsa:6607.
UCSCiuc003jyd.4. human. [Q16637-1]

Organism-specific databases

CTDi6606.
6607.
GeneCardsiSMN1.
SMN2.
GeneReviewsiSMN1.
SMN2.
HGNCiHGNC:11117. SMN1.
HGNC:11118. SMN2.
HPAiCAB009344.
CAB016324.
HPA045271.
MalaCardsiSMN1.
SMN2.
MIMi253300. phenotype.
253400. phenotype.
253550. phenotype.
271150. phenotype.
600354. gene.
601627. gene.
neXtProtiNX_Q16637.
Orphaneti83330. Proximal spinal muscular atrophy type 1.
83418. Proximal spinal muscular atrophy type 2.
83419. Proximal spinal muscular atrophy type 3.
83420. Proximal spinal muscular atrophy type 4.
PharmGKBiPA35967.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4327. Eukaryota.
ENOG4111ME8. LUCA.
GeneTreeiENSGT00730000111041.
HOGENOMiHOG000232199.
HOVERGENiHBG000211.
InParanoidiQ16637.
KOiK13129.
OMAiTTPLKQW.
OrthoDBiEOG091G0OJK.
PhylomeDBiQ16637.
TreeFamiTF318390.

Enzyme and pathway databases

ReactomeiR-HSA-191859. snRNP Assembly.

Miscellaneous databases

EvolutionaryTraceiQ16637.
GeneWikiiSMN1.
SMN2.
PROiQ16637.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172062.
CleanExiHS_SMN1.
HS_SMN2.
ExpressionAtlasiQ16637. baseline and differential.
GenevisibleiQ16637. HS.

Family and domain databases

InterProiIPR010304. Survival_motor_neuron.
IPR002999. Tudor.
[Graphical view]
PfamiPF06003. SMN. 1 hit.
[Graphical view]
SMARTiSM00333. TUDOR. 1 hit.
[Graphical view]
PROSITEiPS50304. TUDOR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMN_HUMAN
AccessioniPrimary (citable) accession number: Q16637
Secondary accession number(s): A8K0V4
, Q13119, Q549U5, Q96J51
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: September 7, 2016
This is version 190 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.