Basic Information

Symbol
SMNDC1
RNA class
mRNA
Alias
Survival Motor Neuron Domain Containing 1 SPF30 SMNR TDRD16C Splicing Factor 30, Survival Of Motor Neuron-Related Survival Of Motor Neuron-Related-Splicing Factor 30 Survival Motor Neuron Domain-Containing Protein 1 30 KDa Splicing Factor SMNrp Tudor Domain Containing 16C SMN-Related Protein
Location (GRCh38)
10:110290730-110304963
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005871.4
Sequence length
4310.0 nt
GC content
0.3684

Transcripts

ID Sequence Length GC content
NM_005871.4 NCBI
GUUCCUCCCUUCCCCCUCGCCGCCGACCGAGUUCUUCCUUUUCAGACCG… 4310 nt 0.3684
Summary

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]

Forensic Context

A study in mice demonstrated that the SMNDC1 gene was differentially expressed in blood leukocytes at 2 hours post-injury, showing upregulation in burn and trauma/hemorrhage models but downregulation following LPS infusion [Brownstein et al. DOI:10.1152/physiolgenomics.00213.2005].