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Protein Page:
SMN (human)

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
Chromosomal Location of Human Ortholog: 5q13.2
Cellular Component: Cajal body; cytoplasm; cytosol; neuron projection; nucleoplasm; nucleus; perikaryon; SMN complex
Molecular Function: identical protein binding; protein binding
Biological Process: nuclear import; spliceosomal snRNP biogenesis; spliceosome assembly; transcription termination
Disease: Spinal Muscular Atrophy, Type I; Spinal Muscular Atrophy, Type Ii; Spinal Muscular Atrophy, Type Iii; Spinal Muscular Atrophy, Type Iv
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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