SMNDC1 - survival motor neuron domain containing 1 Gene

Also Known as SMNR; SPF30; TDRD16C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10285

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15494309 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

SMNDC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMNDC1 O75940 SF3A2 Homo sapiens Q15428
Affinity Chrom
17332742
Intra
SMNDC1 O75940 SF3A2 Homo sapiens Q15428
Anti Tag CoIP
33961781
Intra
SMNDC1 O75940 PRPF3 Homo sapiens O43395
Anti Tag CoIP
22365833
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMNDC1 Proteins

Cat. No. Product Name Accession Purity
HY-P73635 SMNDC1/SPF30 Protein, Human (His) O75940 (M1-Q238) ≥ 85%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13440 SMNDC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19813 Smndc1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26309 Smndc1 Rat Pre-designed siRNA Set A Pre-designed Set / 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