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Protein Page:
GDF3 (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
GDF3 Defects in GDF3 are the cause of Klippel-Feil syndrome type 3 (KFS3); also called Klippel-Feil syndrome autosomal dominant 3. KFS3 is a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Defects in GDF3 are the cause of microphthalmia isolated with coloboma type 6 (MCOPCB6); also called isolated colobomatous microphthalmia 6. MCOPCB6 is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Defects in GDF3 are a cause of microphthalmia isolated type 7 (MCOP7). MCOP7 is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Belongs to the TGF-beta family. Note: This description may include information from UniProtKB.
Protein type: Cytokine; Secreted; Secreted, signal peptide
Cellular Component: extracellular space; cytoplasm
Molecular Function: growth factor activity; cytokine activity; protein kinase binding
Biological Process: response to dietary excess; in utero embryonic development; signal transduction; somite rostral/caudal axis specification; notochord development; formation of anatomical boundary; negative regulation of BMP signaling pathway; eye development; negative regulation of epidermal cell differentiation; regulation of cell fate commitment; mesoderm development; skeletal development; growth; endoderm development
Reference #:  Q9NR23 (UniProtKB)
Alt. Names/Synonyms: gdf 3; gdf-3; gdf3; growth differentiation factor 3; growth/differentiation factor 3
Gene Symbols: GDF3
Molecular weight: 41,387 Da
Basal Isoelectric point: 8.2  Predict pI for various phosphorylation states
Select Structure to View Below

GDF3

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 K37 LQFLGLDKAPSPQKF
0 1 T332 PQAVCIPTKLSPISM
0 1 S335 VCIPTKLSPISMLYQ
  mouse

 
K38-ub LQFLGLEkAPSPHRF
T334-p PKAVCVPtKLsPISM
S337-p VCVPtKLsPISMLYQ
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