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Aliases for SMNDC1 Gene

Aliases for SMNDC1 Gene

  • Survival Motor Neuron Domain Containing 1 2 3
  • SPF30 3 4 6
  • SMNR 3 4 6
  • Survival Motor Neuron Domain-Containing Protein 1 3 4
  • 30 KDa Splicing Factor SMNrp 3 4
  • Tudor Domain Containing 16C 2 3
  • SMN-Related Protein 3 4
  • Splicing Factor 30, Survival Of Motor Neuron-Related 3
  • Survival Of Motor Neuron-Related-Splicing Factor 30 3
  • Survival Of Motor Neuron-Related 2
  • Splicing Factor 30 2
  • TDRD16C 3

External Ids for SMNDC1 Gene

Previous GeneCards Identifiers for SMNDC1 Gene

  • GC10M111717
  • GC10M112042
  • GC10M105683

Summaries for SMNDC1 Gene

Entrez Gene Summary for SMNDC1 Gene

  • 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]

GeneCards Summary for SMNDC1 Gene

SMNDC1 (Survival Motor Neuron Domain Containing 1) is a Protein Coding gene. Diseases associated with SMNDC1 include muscular atrophy. Among its related pathways are Spliceosome. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for SMNDC1 Gene

  • Necessary for spliceosome assembly. Overexpression causes apoptosis.

Gene Wiki entry for SMNDC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMNDC1 Gene

Genomics for SMNDC1 Gene

Regulatory Elements for SMNDC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMNDC1 Gene

110,290,730 bp from pter
110,304,951 bp from pter
14,222 bases
Minus strand

Genomic View for SMNDC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMNDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMNDC1 Gene

Proteins for SMNDC1 Gene

  • Protein details for SMNDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Survival of motor neuron-related-splicing factor 30
    Protein Accession:
    Secondary Accessions:
    • B2RA27
    • D3DRB1
    • Q5T3K6

    Protein attributes for SMNDC1 Gene

    238 amino acids
    Molecular mass:
    26711 Da
    Quaternary structure:
    • Associates with spliceosomes. Associates with U4/U5/U6 tri-snRNP and with U2 snRNP.

    Three dimensional structures from OCA and Proteopedia for SMNDC1 Gene

neXtProt entry for SMNDC1 Gene

Proteomics data for SMNDC1 Gene at MOPED

Post-translational modifications for SMNDC1 Gene

  • Ubiquitination at Lys165
  • Modification sites at PhosphoSitePlus

Other Protein References for SMNDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SMNDC1 Gene

Domains for SMNDC1 Gene

Gene Families for SMNDC1 Gene

  • TDRD :Tudor domain containing

Protein Domains for SMNDC1 Gene

Suggested Antigen Peptide Sequences for SMNDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • O75940
  • The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins
  • Contains 1 Tudor domain.
  • Belongs to the SMN family.
genes like me logo Genes that share domains with SMNDC1: view

Function for SMNDC1 Gene

Molecular function for SMNDC1 Gene

UniProtKB/Swiss-Prot Function:
Necessary for spliceosome assembly. Overexpression causes apoptosis.

Gene Ontology (GO) - Molecular Function for SMNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding --
GO:0005515 protein binding IPI 15494309
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SMNDC1: view

Animal Model Products

CRISPR Products

miRNA for SMNDC1 Gene

miRTarBase miRNAs that target SMNDC1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SMNDC1 Gene

Localization for SMNDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMNDC1 Gene

Nucleus speckle. Nucleus, Cajal body. Note=Detected in nuclear speckles containing snRNP and in Cajal (coiled) bodies.

Subcellular locations from

Jensen Localization Image for SMNDC1 Gene COMPARTMENTS Subcellular localization image for SMNDC1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SMNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IDA --
GO:0015030 Cajal body IEA --
genes like me logo Genes that share ontologies with SMNDC1: view

Pathways for SMNDC1 Gene

SuperPathways for SMNDC1 Gene

Superpath Contained pathways
1 Spliceosome
genes like me logo Genes that share pathways with SMNDC1: view

Pathways by source for SMNDC1 Gene

1 KEGG pathway for SMNDC1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SMNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IBA --
GO:0000375 RNA splicing, via transesterification reactions TAS 9731529
GO:0006397 mRNA processing TAS 9731529
GO:0006915 apoptotic process IEA --
GO:0008380 RNA splicing TAS 9731529
genes like me logo Genes that share ontologies with SMNDC1: view

Transcripts for SMNDC1 Gene

Unigene Clusters for SMNDC1 Gene

Survival motor neuron domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMNDC1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMNDC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: -

Relevant External Links for SMNDC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMNDC1 Gene

mRNA expression in normal human tissues for SMNDC1 Gene

Protein differential expression in normal tissues for SMNDC1 Gene

This gene is overexpressed in Breast (26.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMNDC1 Gene

SOURCE GeneReport for Unigene cluster for SMNDC1 Gene Hs.632093

mRNA Expression by UniProt/SwissProt for SMNDC1 Gene

Tissue specificity: Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas.
genes like me logo Genes that share expressions with SMNDC1: view

Expression partners for SMNDC1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMNDC1 Gene

Orthologs for SMNDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMNDC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SMNDC1 35
  • 94.68 (n)
  • 98.74 (a)
  • 99 (a)
(Canis familiaris)
Mammalia SMNDC1 35
  • 95.8 (n)
  • 99.58 (a)
  • 81 (a)
(Mus musculus)
Mammalia Smndc1 35
  • 90.06 (n)
  • 99.58 (a)
Smndc1 16
Smndc1 36
  • 100 (a)
(Pan troglodytes)
Mammalia SMNDC1 35
  • 99.86 (n)
  • 99.58 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Smndc1 35
  • 90.06 (n)
  • 99.16 (a)
(Monodelphis domestica)
Mammalia SMNDC1 36
  • 100 (a)
(Ornithorhynchus anatinus)
Mammalia SMNDC1 36
  • 98 (a)
(Gallus gallus)
Aves SMNDC1 35
  • 85.29 (n)
  • 95.8 (a)
  • 93 (a)
(Anolis carolinensis)
Reptilia SMNDC1 36
  • 95 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia smndc1 35
  • 76.05 (n)
  • 88.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397900 35
(Danio rerio)
Actinopterygii smndc1 35
  • 69.2 (n)
  • 79.32 (a)
smndc1 36
  • 79 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7875 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006247 35
  • 52.6 (n)
  • 51.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17454 35
  • 51.08 (n)
  • 49.54 (a)
CG17454 36
  • 44 (a)
(Caenorhabditis elegans)
Secernentea smr-1 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10154 36
  • 47 (a)
Species with no ortholog for SMNDC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMNDC1 Gene

Gene Tree for SMNDC1 (if available)
Gene Tree for SMNDC1 (if available)

Paralogs for SMNDC1 Gene Pseudogenes for SMNDC1 Gene

genes like me logo Genes that share paralogs with SMNDC1: view

No data available for Paralogs for SMNDC1 Gene

Variants for SMNDC1 Gene

Sequence variations from dbSNP and Humsavar for SMNDC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs962944 -- 110,302,972(-) GCCTA(A/G)AGAGA intron-variant
rs1050754 -- 110,293,952(-) GTACC(A/C)CGGTT utr-variant-3-prime
rs1050755 -- 110,293,841(-) ATGGT(A/G)TGTAC utr-variant-3-prime
rs1131309 -- 110,295,377(-) AAAAA(A/G)AAATG missense, reference
rs1673665 -- 110,301,353(+) ACTTT(G/T)CAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMNDC1 Gene

Variant ID Type Subtype PubMed ID
nsv7211 OTHER Inversion 18451855
nsv896001 CNV Loss 21882294

Relevant External Links for SMNDC1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMNDC1 Gene

Disorders for SMNDC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SMNDC1 Gene in MalaCards »

(1) Diseases for SMNDC1 Gene including...

Relevant External Links for SMNDC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SMNDC1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for SMNDC1 Gene

Publications for SMNDC1 Gene

  1. Characterization of a gene encoding survival motor neuron (SMN)- related protein, a constituent of the spliceosome complex. (PMID: 9817934) Talbot K. … Davies K.E. (Hum. Mol. Genet. 1998) 2 3 4
  2. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PMID: 9731529) Neubauer G. … Mann M. (Nat. Genet. 1998) 2 3 4
  3. Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3. (PMID: 18211889) Little J.T. … Jurica M.S. (J. Biol. Chem. 2008) 3 23
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48

Products for SMNDC1 Gene

Sources for SMNDC1 Gene

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