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Protein Page:
NOG (human)

Overview
NOG Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Defects in NOG are a cause of symphalangism proximal syndrome (SYM1). SYM1 is characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. Defects in NOG are the cause of multiple synostoses syndrome type 1 (SYNS1); also known as synostoses, multiple, with brachydactyly/symphalangism-brachydactyly syndrome. SYNS1 is characterized by tubular-shaped (hemicylindrical) nose with lack of alar flare, otosclerotic deafness, and multiple progressive joint fusions commencing in the hand. The joint fusions are progressive, commencing in the fifth proximal interphalangeal joint in early childhood (or at birth in some individuals) and progressing in an ulnar-to-radial and proximal- to-distal direction. With increasing age, ankylosis of other joints, including the cervical vertebrae, hips, and humeroradial joints, develop. Defects in NOG are the cause of tarsal-carpal coalition syndrome (TCC). TCC is an autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS); also known as Teunissen- Cremers syndrome. SABTS is a congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. Defects in NOG are the cause of brachydactyly type B2 (BDB2). BDB2 is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly. Belongs to the noggin family. Note: This description may include information from UniProtKB.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 17q22
Cellular Component: extracellular region; extracellular space
Molecular Function: cytokine binding; protein binding; protein complex binding; protein homodimerization activity
Biological Process: axial mesoderm development; BMP signaling pathway; cartilage development; cell differentiation in hindbrain; dorsal/ventral pattern formation; embryonic digit morphogenesis; embryonic skeletal development; endoderm formation; epithelial to mesenchymal transition; in utero embryonic development; limb development; mesoderm formation; middle ear morphogenesis; motor axon guidance; negative regulation of astrocyte differentiation; negative regulation of BMP signaling pathway; negative regulation of cardiac muscle cell proliferation; negative regulation of cell migration; negative regulation of osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; nervous system development; neural plate morphogenesis; neural tube closure; notochord morphogenesis; osteoblast differentiation; pituitary gland development; positive regulation of epithelial cell proliferation; positive regulation of transcription from RNA polymerase II promoter; regulation of neuron differentiation; skeletal development; somatic stem cell maintenance; spinal cord development; wound healing
Disease: Brachydactyly, Type B2; Multiple Synostoses Syndrome 1; Stapes Ankylosis With Broad Thumb And Toes; Symphalangism, Proximal, 1a; Tarsal-carpal Coalition Syndrome
Reference #:  Q13253 (UniProtKB)
Alt. Names/Synonyms: NOG; NOGG; Noggin; SYM1; symphalangism 1 (proximal); SYNS1
Gene Symbols: NOG
Molecular weight: 25,774 Da
Basal Isoelectric point: 9.13  Predict pI for various phosphorylation states
Select Structure to View Below

NOG

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 LTP 

LTP: 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.


 HTP 

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


       human

 
0 1 Y172‑p GSRFWPRyVKVGSCF
0 1 Y222 CGWIPIQYPIISECK
0 1 S226 PIQYPIISECKCSC_
  mouse

 
Y172 GSRFWPRYVKVGSCF
Y222‑p CGWIPIQyPIIsECK
S226‑p PIQyPIIsECKCSC_
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