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survival motor neuron protein-1; component of gems 1; Gemin-1 (SMN1, SMN, SMNT, SMN2, SMNC)

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: a) spinal muscular atrophy autosomal recessive type 1 b) spinal muscular atrophy autosomal recessive type 2 c) spinal muscular atrophy autosomal recessive type 3 d) spinal muscular atrophy autosomal recessive type 4 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

Related

small nuclear ribonucleoprotein associated protein N (SmN) [tissue-specific slicing factor] (SnRPN) survival motor neuron (SMN) gene survival of motor neuron protein-interacting protein 1; SMN-interacting protein 1; component of gems 2; Gemin-2 (SIP1, GEMIN2)

General

phosphoprotein

Properties

SIZE: entity length = 294 aa MW = 32 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: Ser phosphorylation site {S4} Ser phosphorylation site {S5} Ser phosphorylation site {S8} P1 (binding site for SIP1) {13-44} MOTIF: Thr phosphorylation site {T25} Ser phosphorylation site {S28} Ser phosphorylation site {S31} Tudor domain SITE: 91-151 proline-rich region SITE: 195-203 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 217-226 MOTIF: proline residue (SEVERAL) P2 (binding site for SM B) {240-267} MOTIF: proline-rich region SITE: 244-248 MOTIF: proline residue (SEVERAL) SYNCRIP interaction {279-294}

Database Correlations

OMIM correlations MORBIDMAP correlations UniProt Q16637 Pfam PF06003 LOCUS-LINK correlations KEGG correlations

References

  1. UniProt :accession Q16637
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMN1
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMN2
  4. SHMPD; Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SMN1
  5. 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: 7813012
  6. Entrez Gene :accession 6606

Component-of

SMN complex