InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NT5C2

Summary

InnateDB Protein

IDBP-294537.5

Last Modified

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

Gene Symbol

NT5C2

Protein Name

5'-nucleotidase, cytosolic II

Synonyms

cN-II; GMP; NT5B; PNT5; SPG45; SPG65;

Species

Homo sapiens

Ensembl Protein

ENSP00000383960

InnateDB Gene

IDBG-88327 (NT5C2)

Protein Structure

UniProt Annotation

Function

May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides.

Subcellular Localization

Cytoplasm.

Disease Associations

Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest mental retardation, contractures and learning disability. {ECO:0000269PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0005515	protein binding
GO:0008253	5'-nucleotidase activity
GO:0046872	metal ion binding
GO:0050146	nucleoside phosphotransferase activity

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0006195	purine nucleotide catabolic process
GO:0008219	cell death
GO:0016310	phosphorylation
GO:0016311	dephosphorylation
GO:0017144	drug metabolic process
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process