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Tbio
USB1
U6 snRNA phosphodiesterase

Protein Summary
Description
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. This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000219281
  • ENSP00000219281
  • ENSG00000103005
  • ENST00000423271
  • ENSP00000409792
  • ENST00000539737
  • ENSP00000446143

Symbol
  • C16orf57
  • PN
  • Mpn1
  • HVSL1
  • hUsb1
  • C16orf57
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
small molecule perturbation
0.72
transcription factor binding site profile
0.71
cell line
0.69
cell type or tissue
0.63
microRNA
0.63


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 65.8   (req: < 5)
Gene RIFs: 16   (req: <= 3)
Antibodies: 111   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 65.8   (req: >= 5)
Gene RIFs: 16   (req: > 3)
Antibodies: 111   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (64)
GPATCH1
Tdark
Novelty:  0.93318176
p_int:  0.999999801
p_ni:  1.99e-7
Score:  0.741
Data Source:  BioPlex,STRINGDB
DHX35
Tdark
Family:  Enzyme
Novelty:  0.26052594
p_int:  0.999991395
p_ni:  0.000008601
p_wrong:  5e-9
Score:  0.741
Data Source:  BioPlex,STRINGDB
AQR
Tbio
Novelty:  0.00434312
p_int:  0.999989549
p_ni:  0.00001045
Score:  0.553
Data Source:  BioPlex,STRINGDB
CRNKL1
Tbio
Novelty:  0.10274174
p_int:  0.999954824
p_ni:  0.000045176
Score:  0.588
Data Source:  BioPlex,STRINGDB
SYF2
Tbio
Novelty:  0.06114903
p_int:  0.999941377
p_ni:  0.00005862
p_wrong:  3e-9
Score:  0.809
Data Source:  BioPlex,STRINGDB
CWF19L2
Tdark
Novelty:  0.80210985
p_int:  0.99993942
p_ni:  0.000060579
p_wrong:  2e-9
Score:  0.725
Data Source:  BioPlex,STRINGDB
XAB2
Tbio
Novelty:  0.04104647
p_int:  0.999894156
p_ni:  0.000105843
Score:  0.653
Data Source:  BioPlex,STRINGDB
CDC40
Tbio
Novelty:  0.03139044
p_int:  0.999874087
p_ni:  0.000125908
p_wrong:  4e-9
Score:  0.377
Data Source:  BioPlex,STRINGDB
ISY1
Tdark
Novelty:  1.68602768
p_int:  0.999860789
p_ni:  0.000139211
Data Source:  BioPlex
BUD31
Tbio
Novelty:  0.13364384
p_int:  0.999844823
p_ni:  0.000155177
Score:  0.729
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum gamma-glutamyl transferase measurement
2
2
2
91.9
FEV/FEC ratio
1
1
1
82.1
serum alanine aminotransferase measurement
1
1
0
6.4
44.2
1
2
0
1.1
26.6
pulmonary function measurement
1
1
1
15.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum gamma-glutamyl transferase measurement
2
91.9
FEV/FEC ratio
1
82.1
serum alanine aminotransferase measurement
0
6.4
44.2
0
1.1
26.6
pulmonary function measurement
1
15.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
U6 snRNA biogenesis phosphodiesterase 1
VGNC:9399
454128
Macaque
U6 snRNA biogenesis phosphodiesterase 1
712172
Mouse
MGI:2142454
101985
Rat
RGD:1305215
307643
Dog
U6 snRNA biogenesis phosphodiesterase 1
VGNC:53480
611141
Species
Name
OMA
EggNOG
Inparanoid
Chimp
U6 snRNA biogenesis phosphodiesterase 1
Macaque
U6 snRNA biogenesis phosphodiesterase 1
Mouse
Rat
Dog
U6 snRNA biogenesis phosphodiesterase 1
Publication Statistics
PubMed Score 65.80
PubMed score by year
PubTator Score 31.61
PubTator score by year
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Related Publications
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PMID
Year
Title