• Gene id: 10285

Gene Summary

• Gene Symbol: SMNDC1   Gene   UCSC   Ensembl
• Aliases: SMNR, SPF30, TDRD16C
• Gene name: survival motor neuron domain containing 1
• Alternate names: survival of motor neuron-related-splicing factor 30, 30 kDa splicing factor SMNrp, SMN-related protein, splicing factor 30, survival of motor neuron-related, survival motor neuron domain-containing protein 1, tudor domain containing 16C,
• Gene location: 10q25.2 (110304968: 110290729)     Exons: 7     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 609986

Protein Summary

• Protein general information: O75940  
  • Name: Survival of motor neuron related splicing factor 30 (30 kDa splicing factor SMNrp) (SMN related protein) (Survival motor neuron domain containing protein 1)
  • Length: 238  
  • Mass: 26711
  • Tissue specificity: Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas. {ECO
• Sequence:

  MSEDLAKQLASYKAQLQQVEAALSGNGENEDLLKLKKDLQEVIELTKDLLSTQPSETLASSDSFASTQPTHSWKV
  GDKCMAVWSEDGQCYEAEIEEIDEENGTAAITFAGYGNAEVTPLLNLKPVEEGRKAKEDSGNKPMSKKEMIAQQR
  EYKKKKALKKAQRIKELEQEREDQKVKWQQFNNRAYSKNKKGQVKRSIFASPESVTGKVGVGTCGIADKPMTQYQ
  DTSKYNVRHLMPQ

• Structural information:
  • Protein Domains: (72..13-)
    (/note="Tudor-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00211"-)
  • Interpro: IPR010304  IPR002999  
  • Prosite: PS50304
  • PDB: 4A4F 4A4H
  • PDBsum: 4A4F 4A4H
  • STRING: ENSP00000358616
• Other Databases: GeneCards:  SMNDC1  Malacards:  SMNDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015030	Cajal body	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881