SMNDC1 - survival motor neuron domain containing 1 Gene

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

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	Pre-designed Sets	/	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

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