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{{ITALICTITLE}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Survival of motor neuron 1''' ('''''SMN1'''''), also known as '''component of gems 1''' or '''''GEMIN1''''', is a gene that encodes the [[Survival of motor neuron|SMN protein]] in humans.<ref name="pmid7813012">{{cite journal | vauthors = Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M | title = Identification and characterization of a spinal muscular atrophy-determining gene | journal = Cell | volume = 80 | issue = 1 | pages = 155–65 | date = January 1995 | pmid = 7813012 | doi = 10.1016/0092-8674(95)90460-3 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMN1 survival of motor neuron 1, telomeric| url = https://www.ncbi.nlm.nih.gov/gene/6606| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Gene ==
{{GNF_Protein_box
| image = PBB_Protein_SMN1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1g5v.
| PDB = {{PDB2|1g5v}}, {{PDB2|1mhn}}
| Name = Survival of motor neuron 1, telomeric
| HGNCid = 11117
| Symbol = SMN1
| AltSymbols =; SMN; BCD541; SMA1; SMA2; SMA3; SMA4; SMNT; T-BCD541; C-BCD541; SMNC
| OMIM = 600354
| ECnumber = 
| Homologene = 292
| MGIid = 109257
| Function = {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0015030 |text = Cajal body}}
| Process = {{GNF_GO|id=GO:0000245 |text = spliceosome assembly}} {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6606
    | Hs_Ensembl = 
    | Hs_RefseqProtein = XP_001126655
    | Hs_RefseqmRNA = XM_001126655
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 20595
    | Mm_Ensembl = ENSMUSG00000021645
    | Mm_RefseqmRNA = NM_011420
    | Mm_RefseqProtein = NP_035550
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 101225134
    | Mm_GenLoc_end = 101237947
    | Mm_Uniprot = Q3UMN7
  }}
}}
'''Survival of motor neuron 1, telomeric''', also known as '''SMN1''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
''SMN1'' is the [[Telomere|telomeric]] copy of the gene encoding the SMN protein; the [[Centromere|centromeric]] copy is termed ''[[SMN2]]''. ''SMN1'' and ''SMN2'' are part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. ''SMN1'' and ''SMN2'' are nearly identical and encode the same protein.<ref name="entrez"/> The critical sequence difference between the two is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants are produced by this gene.<ref name="entrez">{{cite web | title = Entrez Gene: SMN1 survival of motor neuron 1, telomeric| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6606| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
* [[Survival of motor neuron]]


==References==
Mutations in ''SMN1'' are associated with [[spinal muscular atrophy]]. Mutations in ''SMN2'' alone do not lead to disease, although mutations in both ''SMN1'' and ''SMN2'' result in embryonic death.
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Hausmanowa-Petrusewicz I, Jedrzejowska M |title=Spinal muscular atrophy of childhood at the edge of the centuries. |journal=Funct. Neurol. |volume=16 |issue= 4 Suppl |pages= 247-53 |year= 2002 |pmid= 11996521 |doi=  }}
*{{cite journal  | author=Paushkin S, Gubitz AK, Massenet S, Dreyfuss G |title=The SMN complex, an assemblyosome of ribonucleoproteins. |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 3 |pages= 305-12 |year= 2002 |pmid= 12067652 |doi=  }}
*{{cite journal  | author=van der Steege G, Draaijers TG, Grootscholten PM, ''et al.'' |title=A provisional transcript map of the spinal muscular atrophy (SMA) critical region. |journal=Eur. J. Hum. Genet. |volume=3 |issue= 2 |pages= 87-95 |year= 1995 |pmid= 7552146 |doi=  }}
*{{cite journal  | author=Bussaglia E, Clermont O, Tizzano E, ''et al.'' |title=A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 335-7 |year= 1995 |pmid= 7581461 |doi= 10.1038/ng1195-335 }}
*{{cite journal  | author=Gennarelli M, Lucarelli M, Capon F, ''et al.'' |title=Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. |journal=Biochem. Biophys. Res. Commun. |volume=213 |issue= 1 |pages= 342-8 |year= 1995 |pmid= 7639755 |doi= 10.1006/bbrc.1995.2135 }}
*{{cite journal  | author=Lefebvre S, Bürglen L, Reboullet S, ''et al.'' |title=Identification and characterization of a spinal muscular atrophy-determining gene. |journal=Cell |volume=80 |issue= 1 |pages= 155-65 |year= 1995 |pmid= 7813012 |doi=  }}
*{{cite journal  | author=Liu Q, Dreyfuss G |title=A novel nuclear structure containing the survival of motor neurons protein. |journal=EMBO J. |volume=15 |issue= 14 |pages= 3555-65 |year= 1996 |pmid= 8670859 |doi=  }}
*{{cite journal  | author=van der Steege G, Grootscholten PM, Cobben JM, ''et al.'' |title=Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. |journal=Am. J. Hum. Genet. |volume=59 |issue= 4 |pages= 834-8 |year= 1996 |pmid= 8808598 |doi=  }}
*{{cite journal  | author=Bürglen L, Lefebvre S, Clermont O, ''et al.'' |title=Structure and organization of the human survival motor neurone (SMN) gene. |journal=Genomics |volume=32 |issue= 3 |pages= 479-82 |year= 1997 |pmid= 8838816 |doi= 10.1006/geno.1996.0147 }}
*{{cite journal  | author=Parsons DW, McAndrew PE, Monani UR, ''et al.'' |title=An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1727-32 |year= 1997 |pmid= 8922999 |doi=  }}
*{{cite journal  | author=Talbot K, Ponting CP, Theodosiou AM, ''et al.'' |title=Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? |journal=Hum. Mol. Genet. |volume=6 |issue= 3 |pages= 497-500 |year= 1997 |pmid= 9147655 |doi=  }}
*{{cite journal  | author=Hahnen E, Schönling J, Rudnik-Schöneborn S, ''et al.'' |title=Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 821-5 |year= 1997 |pmid= 9158159 |doi=  }}
*{{cite journal  | author=Coovert DD, Le TT, McAndrew PE, ''et al.'' |title=The survival motor neuron protein in spinal muscular atrophy. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1205-14 |year= 1997 |pmid= 9259265 |doi=  }}
*{{cite journal  | author=Battaglia G, Princivalle A, Forti F, ''et al.'' |title=Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. |journal=Hum. Mol. Genet. |volume=6 |issue= 11 |pages= 1961-71 |year= 1998 |pmid= 9302277 |doi=  }}
*{{cite journal  | author=Liu Q, Fischer U, Wang F, Dreyfuss G |title=The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. |journal=Cell |volume=90 |issue= 6 |pages= 1013-21 |year= 1997 |pmid= 9323129 |doi=  }}
*{{cite journal  | author=Iwahashi H, Eguchi Y, Yasuhara N, ''et al.'' |title=Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. |journal=Nature |volume=390 |issue= 6658 |pages= 413-7 |year= 1997 |pmid= 9389483 |doi= 10.1038/37144 }}
*{{cite journal  | author=Chen Q, Baird SD, Mahadevan M, ''et al.'' |title=Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. |journal=Genomics |volume=48 |issue= 1 |pages= 121-7 |year= 1998 |pmid= 9503025 |doi= 10.1006/geno.1997.5141 }}
*{{cite journal  | author=Francis JW, Sandrock AW, Bhide PG, ''et al.'' |title=Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 11 |pages= 6492-7 |year= 1998 |pmid= 9600994 |doi=  }}
*{{cite journal  | author=Gambardella A, Mazzei R, Toscano A, ''et al.'' |title=Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. |journal=Ann. Neurol. |volume=44 |issue= 5 |pages= 836-9 |year= 1998 |pmid= 9818944 |doi= 10.1002/ana.410440522 }}
*{{cite journal  | author=Parsons DW, McAndrew PE, Iannaccone ST, ''et al.'' |title=Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. |journal=Am. J. Hum. Genet. |volume=63 |issue= 6 |pages= 1712-23 |year= 1999 |pmid= 9837824 |doi=  }}
}}
{{refend}}


{{protein-stub}}
== References ==
{{Reflist|30em}}


{{WH}}
== Further reading ==
{{WS}}
{{Refbegin |colwidth=35em}}
* {{cite journal | vauthors = Hausmanowa-Petrusewicz I, Jedrzejowska M | title = Spinal muscular atrophy of childhood at the edge of the centuries | journal = Functional Neurology | volume = 16 | issue = 4 Suppl | pages = 247–53 | year = 2002 | pmid = 11996521 | doi =  }}
* {{cite journal | vauthors = Paushkin S, Gubitz AK, Massenet S, Dreyfuss G | title = The SMN complex, an assemblyosome of ribonucleoproteins | journal = Current Opinion in Cell Biology | volume = 14 | issue = 3 | pages = 305–12 | date = June 2002 | pmid = 12067652 | doi = 10.1016/S0955-0674(02)00332-0 }}
* {{cite journal | vauthors = van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velonà I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ | title = A provisional transcript map of the spinal muscular atrophy (SMA) critical region | journal = European Journal of Human Genetics | volume = 3 | issue = 2 | pages = 87–95 | year = 1995 | pmid = 7552146 | doi =  }}
* {{cite journal | vauthors = Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M | title = A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients | journal = Nature Genetics | volume = 11 | issue = 3 | pages = 335–7 | date = November 1995 | pmid = 7581461 | doi = 10.1038/ng1195-335 }}
* {{cite journal | vauthors = Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B | title = Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients | journal = Biochemical and Biophysical Research Communications | volume = 213 | issue = 1 | pages = 342–8 | date = August 1995 | pmid = 7639755 | doi = 10.1006/bbrc.1995.2135 }}
* {{cite journal | vauthors = Liu Q, Dreyfuss G | title = A novel nuclear structure containing the survival of motor neurons protein | journal = The EMBO Journal | volume = 15 | issue = 14 | pages = 3555–65 | date = July 1996 | pmid = 8670859 | pmc = 451956 | doi =  }}
* {{cite journal | vauthors = van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH | title = Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5 | journal = American Journal of Human Genetics | volume = 59 | issue = 4 | pages = 834–8 | date = October 1996 | pmid = 8808598 | pmc = 1914786 | doi =  }}
* {{cite journal | vauthors = Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J | title = Structure and organization of the human survival motor neurone (SMN) gene | journal = Genomics | volume = 32 | issue = 3 | pages = 479–82 | date = March 1996 | pmid = 8838816 | doi = 10.1006/geno.1996.0147 }}
* {{cite journal | vauthors = Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW | title = An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene | journal = Human Molecular Genetics | volume = 5 | issue = 11 | pages = 1727–32 | date = November 1996 | pmid = 8922999 | doi = 10.1093/hmg/5.11.1727 }}
* {{cite journal | vauthors = Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE | title = Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? | journal = Human Molecular Genetics | volume = 6 | issue = 3 | pages = 497–500 | date = March 1997 | pmid = 9147655 | doi = 10.1093/hmg/6.3.497 }}
* {{cite journal | vauthors = Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B | title = Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA) | journal = Human Molecular Genetics | volume = 6 | issue = 5 | pages = 821–5 | date = May 1997 | pmid = 9158159 | doi = 10.1093/hmg/6.5.821 }}
* {{cite journal | vauthors = Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH | title = The survival motor neuron protein in spinal muscular atrophy | journal = Human Molecular Genetics | volume = 6 | issue = 8 | pages = 1205–14 | date = August 1997 | pmid = 9259265 | doi = 10.1093/hmg/6.8.1205 }}
* {{cite journal | vauthors = Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M | title = Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system | journal = Human Molecular Genetics | volume = 6 | issue = 11 | pages = 1961–71 | date = October 1997 | pmid = 9302277 | doi = 10.1093/hmg/6.11.1961 }}
* {{cite journal | vauthors = Liu Q, Fischer U, Wang F, Dreyfuss G | title = The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins | journal = Cell | volume = 90 | issue = 6 | pages = 1013–21 | date = September 1997 | pmid = 9323129 | doi = 10.1016/S0092-8674(00)80367-0 }}
* {{cite journal | vauthors = Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y | title = Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy | journal = Nature | volume = 390 | issue = 6658 | pages = 413–7 | date = November 1997 | pmid = 9389483 | doi = 10.1038/37144 }}
* {{cite journal | vauthors = Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE | title = Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP | journal = Genomics | volume = 48 | issue = 1 | pages = 121–7 | date = February 1998 | pmid = 9503025 | doi = 10.1006/geno.1997.5141 }}
* {{cite journal | vauthors = Francis JW, Sandrock AW, Bhide PG, Vonsattel JP, Brown RH | title = Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 11 | pages = 6492–7 | date = May 1998 | pmid = 9600994 | pmc = 27826 | doi = 10.1073/pnas.95.11.6492 }}
* {{cite journal | vauthors = Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, Quattrone F, Oliveri RL, Valentino P, Bono F, Aguglia U, Zappia M, Vita G, Quattrone A | title = Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene | journal = Annals of Neurology | volume = 44 | issue = 5 | pages = 836–9 | date = November 1998 | pmid = 9818944 | doi = 10.1002/ana.410440522 }}
* {{cite journal | vauthors = Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW | title = Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number | journal = American Journal of Human Genetics | volume = 63 | issue = 6 | pages = 1712–23 | date = December 1998 | pmid = 9837824 | pmc = 1377643 | doi = 10.1086/302160 }}
{{Refend}}
 
== External links ==
* {{cite journal | veditors = Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, | vauthors = Prior TW, Russman BS | title = Spinal Muscular Atrophy | journal = GeneReviews [Internet] | volume = | issue = | pages = | year = 2013 | pmid = 20301526 | doi = | url = https://www.ncbi.nlm.nih.gov/books/NBK1352/ }}
 
{{NLM content}}
{{PDB Gallery|geneid=6606}}
{{Chaperones}}
 
[[Category:Spinal muscular atrophy]]

Revision as of 19:55, 2 December 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.[1][2]

Gene

SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. SMN1 and SMN2 are nearly identical and encode the same protein.[2] The critical sequence difference between the two is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene.[2]

Clinical significance

Mutations in SMN1 are associated with spinal muscular atrophy. Mutations in SMN2 alone do not lead to disease, although mutations in both SMN1 and SMN2 result in embryonic death.

References

  1. ↑ Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
  2. ↑ 2.0 2.1 2.2 "Entrez Gene: SMN1 survival of motor neuron 1, telomeric".

Further reading

External links

  • Prior TW, Russman BS (2013). Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, eds. "Spinal Muscular Atrophy". GeneReviews [Internet]. PMID 20301526.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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