InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NSUN2

Summary

InnateDB Protein

IDBP-476796.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NSUN2

Protein Name

NOP2/Sun domain family, member 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000420957

InnateDB Gene

IDBG-11582 (NSUN2)

Protein Structure

UniProt Annotation

Function

RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5- methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity. {ECO:0000269PubMed:17071714, ECO:0000269PubMed:19596847, ECO:0000269PubMed:22995836}.

Subcellular Localization

Nucleus, nucleolus. Cytoplasm, cytoskeleton, spindle. Note=Concentrated in the nucleolus during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S ribosomal RNA.

Disease Associations

Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:22541559, ECO:0000269PubMed:22541562}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in adult and fetal brain and in lymphoblastoid cells. {ECO:0000269PubMed:22541559}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	66 [view]
Protein-Protein	66 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000049	tRNA binding
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity
GO:0044822	poly(A) RNA binding

Biological Process

GO:0007067	mitotic nuclear division
GO:0030488	tRNA methylation

Cellular Component

GO:0005634	nucleus
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005819	spindle

Protein Structure and Domains

PDB ID

InterPro

IPR001678 Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p
IPR023267 RNA (C5-cytosine) methyltransferase
IPR023270 tRNA (C5-cytosine) methyltransferase, NCL1
IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like

PFAM

PF01189

PRINTS

PR02008
PR02011

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q08J23