survival motor neuron protein-1; component of gems 1; Gemin-1 (SMN1, SMN, SMNT, SMN2, SMNC)
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Function
- component of SMN complex
- component of import snRNP complex
- interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP & with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE & ILF3
- interacts with OSTF1
Structure
- belongs to the SMN family
- contains 1 Tudor domain
Compartment
- cytoplasm. nucleus, gem
- localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems)
Alternative splicing
named isoforms=4
Expression
- expressed in a wide variety of tissues
- expressed at high levels in brain, kidney & liver
- moderate levels in skeletal & cardiac muscle,
- low levels in fibroblasts & lymphocytes
- also seen at high levels in spinal cord
- present in osteoclasts & mononuclear cells (at protein level)
Pathology
- defects in SMN1 are the cause of:
Genetics
- the SMN gene is present in two highly homologous & functional copies (TelSMN/SMN1 & cenSMN/SMN2)
- the telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected
Notes
- SMN (survival motor neuron) protein 2 apparently same as SMN (survival motor neuron) protein 1
More general terms
Additional terms
- small nuclear ribonucleoprotein associated protein N (SmN) [tissue-specific slicing factor] (SnRPN)
- survival of motor neuron protein-interacting protein 1; SMN-interacting protein 1; component of gems 2; Gemin-2 (SIP1, GEMIN2)
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q16637.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMN1
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMN2
- ↑ SHMPD; Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SMN1
- ↑ Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7813012
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6606
Database
- UniProt: http://www.uniprot.org/uniprot/Q16637.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6606
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6607
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:100133
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:100133
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6606
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6607
- OMIM: https://mirror.omim.org/entry/253300
- OMIM: https://mirror.omim.org/entry/253400
- OMIM: https://mirror.omim.org/entry/253550
- OMIM: https://mirror.omim.org/entry/271150
- OMIM: https://mirror.omim.org/entry/600354
- OMIM: https://mirror.omim.org/entry/601627