Recombinant Human Survival of motor neuron-related-splicing factor 30 (SMNDC1)

Uniprot Id

O75940

Target Species

Human

Target Name

SMNDC1

Target Full Name

Survival of motor neuron-related-splicing factor 30

Target Function

Involved in spliceosome assembly.

Target Subcellular Location

Nucleus speckle. Nucleus, Cajal body.

Target Protein Families

SMN family

Target Tissue Specificity

Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas.

Target Synonyms

30 kDa splicing factor SMNrp; MGC106917; MGC112663; SMN related protein; SMN-related protein; smndc1; SMNR; SPF30; SPF30_HUMAN; Splicing factor 30, survival of motor neuron-related; Survival motor neuron domain containing 1; Survival motor neuron domain containing protein 1; Survival motor neuron domain-containing protein 1; Survival of motor neuron related splicing factor 30; Survival of motor neuron-related-splicing factor 30

Target 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.