InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: USB1

Summary

InnateDB Protein

IDBP-34029.6

Last Modified

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

Gene Symbol

USB1

Protein Name

chromosome 16 open reading frame 57

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000219281

InnateDB Gene

IDBG-34027 (USB1)

Protein Structure

UniProt Annotation

Function

Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate. {ECO:0000255HAMAP- Rule:MF_03040, ECO:0000269PubMed:22899009, ECO:0000269PubMed:23190533}.

Subcellular Localization

Nucleus {ECO:0000255HAMAP-Rule:MF_03040, ECO:0000269PubMed:22899009}.

Disease Associations

Poikiloderma with neutropenia (PN) [MIM:604173]: A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome. {ECO:0000269PubMed:20004881, ECO:0000269PubMed:20503306}. 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 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000175	3'-5'-exoribonuclease activity
GO:0004518	nuclease activity

Biological Process

GO:0006397	mRNA processing
GO:0008380	RNA splicing
GO:0034477	U6 snRNA 3'-end processing
GO:0090305	nucleic acid phosphodiester bond hydrolysis
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic