2. Gene
  3. SMNDC1 - survival motor neuron domain containing 1 Gene

SMNDC1 - survival motor neuron domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SMNR; SPF30; TDRD16C

Gene ID: 10285 | Gene type: protein coding

About SMNDC1

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:110,290,730-110,304,920 (from NCBI)

This gene has 6 transcripts (splice variants), 216 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 20.9), lymph node (RPKM 13.0) and 25 other tissues.

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]

SMNDC1 Products(1)

mRNA Protein Name
NM_005871.4 NP_005862.1 survival of motor neuron-related-splicing factor 30

SMNDC1 Protein Structure

SMN

SMN: Survival motor neuron protein (SMN) (66 - 160)

  • 0
  • 100
  • 200
  • 238 a.a.
Protein Preferred Names Protein Names

survival of motor neuron-related-splicing factor 30

30 kDa splicing factor SMNrp

Recombinant SMNDC1 Proteins

Cat. No. Product Name Accession Purity
HY-P73635 SMNDC1/SPF30 Protein, Human (His) O75940 (M1-Q238) ≥95%

Related Diseases

Diseases Alias
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Proximal Spinal Muscular Atrophy

Sma
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13440 SMNDC1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SMNDC1 VGNC VGNC:103868
Felis catus SMNDC1 VGNC VGNC:65497
Rattus norvegicus SMNDC1 RGD RGD:1309151
Canis familiaris SMNDC1 VGNC VGNC:46564
Mus musculus SMNDC1 MGD MGI:1923729
Bos taurus SMNDC1 VGNC VGNC:35024
Others SMNDC1 NCBI