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Protein Page:
USB1 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
USB1 Putative phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as a ribonuclease (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. Defects in USB1 are the cause of poikiloderma with neutropenia (PN). PN is 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. 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. Belongs to the USB1 family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Cellular Component: nucleus
Molecular Function: 3'-5'-exoribonuclease activity
Biological Process: RNA splicing; mRNA processing
Reference #:  Q9BQ65 (UniProtKB)
Alt. Names/Synonyms: C16orf57; chromosome 16 open reading frame 57; CP057; FLJ13154; HVSL motif containing 1; HVSL1; hypothetical protein LOC79650; PN; UPF0406 protein C16orf57
Gene Symbols: USB1
Molecular weight: 30,268 Da
Basal Isoelectric point: 6.06  Predict pI for various phosphorylation states
Select Structure to View Below

USB1

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S11 APLVGYSSSGSEDES
0 1 S12 PLVGYSSSGSEDESE
0 1 S14 VGYSSSGSEDESEDG
0 3 S36-p GSHRRGQsPLPRQRF
0 2 K258-ac VRCKSGNkFFSMPLK
  mouse

 
S11-p APLVGYSssGsEDEA
S12-p PLVGYSssGsEDEAE
S14-p VGYSssGsEDEAEAV
N38 GFHRCGQNPVPSEKL
K260 VRCKSGNKFFSMPLK
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