SMNDC1

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]

Description

Survival motor neuron domain containing 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (110290730 - 110304938)

Ensembl ID

ENSG00000119953  (ver. 103.38)

Orthologs

Mouse Smndc1: ENSMUSG00000025024

UniProt

O75940

neXtProt

NX_O75940

Human splice variants
Mouse splice variants

Protein structure