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Tbio Survival of motor neuron-related-splicing factor 30

Necessary for spliceosome assembly. Overexpression causes apoptosis.

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]

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Property Summary

NCBI Gene PubMed Count 17
PubMed Score 88.49
PubTator Score 50.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (8)

Disease Z-score Confidence
Acne 20 4.052 2.0
Skin cancer 37 3.784 1.9
Muscular atrophy 67 3.272 1.6
Multiple myeloma 1,327
dermatomyositis 933
diabetes mellitus 1,663
mucosa-associated lymphoid tissue lympho... 480 
pancreatic cancer 2,300

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.452 0.008
diabetes mellitus -1.600 0.002
mucosa-associated lymphoid tissue lympho... -1.343 0.022
pancreatic cancer 1.100 0.016
dermatomyositis 1.200 0.001

Synonym

Accession O75940 B2RA27 D3DRB1 Q5T3K6
Symbols SMNR
SPF30
TDRD16C

Gene

SMNDC1

PDB

4A4F   4A4H  

 GO Function (1)

 GO Component (5)

 GO Process (3)

 Compartment GO Term (32)

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Pathway (6)

 UniProt Keyword (11)

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Gene RIF (4)

PMID Text
22363433 The binding specificity and affinity of the Tudor domains of TDRD3, SMN and SPF30 proteins were characterized quantitatively.
22101937 The structures of SMN and SPF30 Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) are presented.
18211889 U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition
16385451 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MSEDLAKQLASYKAQLQQVEAALSGNGENEDLLKLKKDLQEVIELTKDLLSTQPSETLASSDSFASTQPT      1 - 70
HSWKVGDKCMAVWSEDGQCYEAEIEEIDEENGTAAITFAGYGNAEVTPLLNLKPVEEGRKAKEDSGNKPM     71 - 140
SKKEMIAQQREYKKKKALKKAQRIKELEQEREDQKVKWQQFNNRAYSKNKKGQVKRSIFASPESVTGKVG    141 - 210
VGTCGIADKPMTQYQDTSKYNVRHLMPQ                                              211 - 238
//

Text Mined References (25)

PMID Year Title
23850713 2014 Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
22363433 2012 Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30.
22101937 2011 Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.
21269460 2011 Initial characterization of the human central proteome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
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