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Protein Page:
PCDH15 (mouse)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
PCDH15 Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. Defects in PCDH15 are the cause of Usher syndrome type 1F (USH1F). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in PCDH15 are a cause of Usher syndrome type 1D/F (USH1DF). USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in PCDH15 are the cause of deafness autosomal recessive type 23 (DFNB23). DFNB23 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Cell development/differentiation; Membrane protein, integral
Cellular Component: stereocilium; extracellular space; photoreceptor outer segment; membrane; cytoplasm; plasma membrane; extracellular region; integral to membrane; synapse
Molecular Function: protein binding; calcium ion binding
Biological Process: startle response; adult locomotory behavior; righting reflex; multicellular organism growth; photoreceptor cell maintenance; actin filament organization; locomotory behavior; auditory receptor cell differentiation; detection of mechanical stimulus involved in sensory perception of sound; adult walking behavior; detection of mechanical stimulus involved in equilibrioception; sensory perception of sound; visual perception; sensory cilium biogenesis; sensory perception of light stimulus; morphogenesis of an epithelium; auditory receptor cell stereocilium organization and biogenesis; cell adhesion; homophilic cell adhesion; inner ear development; equilibrioception
Reference #:  Q99PJ1 (UniProtKB)
Alt. Names/Synonyms: Ames waltzer; av; BB078305; ENSMUSG00000046980; Gm9815; nmf19; PCD15; Pcdh15; protocadherin 15; protocadherin-15; Ush1f
Gene Symbols: Pcdh15
Molecular weight: 214,787 Da
Basal Isoelectric point: 5.02  Predict pI for various phosphorylation states
Select Structure to View Below

PCDH15

Protein Structure Not Found.


STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB  |  UCSD-Nature  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene


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.


       mouse

► Hide Isoforms
 
0 1 Y584 ELIVGQTYALTVQAS
0 2 Y777-p ITSNGSIyTAVKLNR
0 1 S863 NVSYRIRSPEVKHLF
0 2 K1875 KGILRHVKNLAELEK
0 1 - gap
  PCDH15 iso10  
Y591 ELIVGQTYALTVQAS
Y784 ITSNGSIYTAVKLNR
S870 NVSYRIRSPEVKHLF
- gap
R1546-m1 PTYPTWKrARIFPMI
  human

► Hide Isoforms
 
Y579-p EMIVGRTyALTVQAA
Y772 ITSNGSIYTAVKLNR
S858-p NVSYRIRsPEVKHFF
K1887-a KGILRHVkNLAELEK
- gap
  PCDH15 iso4  
Y579 EMIVGRTYALTVQAA
Y701 ITSNGSIYTAVKLNR
S787 NVSYRIRSPEVKHFF
K1818 KGILRHVKNLAELEK
- gap
  PCDH15 iso5  
Y591 EMIVGRTYALTVQAA
Y784 ITSNGSIYTAVKLNR
S870 NVSYRIRSPEVKHFF
- gap
R1547 PTYTTWKRARIFPMI
  rat

 
Y585 ELVVGQTYALTVQAS
Y778-p ITSNGSIyTAVKLNR
S864 NVSYRIRSPEVKHLF
K1873 KGILRHVKNLAELEK
- gap
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