background:
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Function:
Necessary for spliceosome assembly. Overexpression causes apoptosis.
Subcellular Location:
Nucleus speckle. Nucleus > Cajal body. Detected in nuclear speckles containing snRNP and in Cajal (coiled) bodies.
Tissue Specificity:
Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas.
Similarity:
Belongs to the SMN family.
Contains 1 Tudor domain.
Database links:
Entrez Gene: 520500 Cow
Entrez Gene: 10285 Human
Entrez Gene: 76479 Mouse
Entrez Gene: 287768 Rat
Entrez Gene: 572679 Zebrafish
Omim: 603519 Human
SwissProt: Q3T045 Cow
SwissProt: O75940 Human
SwissProt: Q8BGT7 Mouse
SwissProt: Q4QQU6 Rat
SwissProt: Q7ZV80 Zebrafish
Unigene: 66493 Human
Unigene: 313687 Mouse
Unigene: 103854 Rat
Unigene: 75917 Zebrafish
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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