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- Table of Contents
Facts about Survival motor neuron protein.
Most spliceosomal snRNPs have 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 complicated by the chaperone CLNS1A that controls the assembly of the core snRNP.
Human | |
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Gene Name: | SMN1 |
Uniprot: | Q16637 |
Entrez: | 6606 |
Belongs to: |
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SMN family |
Gemin-1; Kugelberg-Welander disease); SMNC; survival motor neuron protein; survival of motor neuron 1, telomeric
Mass (kDA):
31.849 kDA
Human | |
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Location: | 5q13.2 |
Sequence: | 5; NC_000005.10 (70924941..70953015) |
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).
Nucleus, gem. Nucleus, Cajal body. Cytoplasm. Cytoplasmic granule. Perikaryon. Cell projection, neuron projection. Cell projection, axon. Cytoplasm, myofibril, sarcomere, Z line. Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976
PMID: 7813012 by Lefebvre S., et al. Identification and characterization of a spinal muscular atrophy- determining gene.
PMID: 8838816 by Buerglen L., et al. Structure and organization of the human survival motor neurone (SMN) gene.