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Protein Page:
SHOX (human)

Overview
SHOX Controls fundamental aspects of growth and development. Defects in SHOX are the cause of Leri-Weill dyschondrosteosis (LWD). LWD is a dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. Defects in SHOX are a cause of Langer mesomelic dysplasia (LMD). LMD is an autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. Defects in SHOX are a cause of idiopathic short stature (ISS). Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations of national height standards in the absence of specific causative disorders. Belongs to the paired homeobox family. Bicoid subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA binding protein; Transcription factor
Cellular Component: nucleus
Molecular Function: protein binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; skeletal development
Reference #:  O15266 (UniProtKB)
Alt. Names/Synonyms: GCFX; growth control factor, X-linked; PHOG; Pseudoautosomal homeobox-containing osteogenic protein; short stature homeobox; Short stature homeobox protein; Short stature homeobox-containing protein; SHOX; SHOXY; SS
Gene Symbols: SHOX
Molecular weight: 32,236 Da
Basal Isoelectric point: 7.23  Predict pI for various phosphorylation states
Select Structure to View Below

SHOX

Protein Structure Not Found.


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Sites Implicated In
cell cycle regulation: S106‑p
transcription, induced: S106‑p

Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

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

 
1 1 S106-p EKREDVKsEDEDGQT
  dog

 
S105 EKREDVKSEDEDGQT
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