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Protein Page:
USH1C (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
USH1C Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C); also known as Usher syndrome type I Acadian variety. 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 USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 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. 5 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal protein
Chromosomal Location of Human Ortholog: 11p14.3
Cellular Component: stereocilium; photoreceptor inner segment; photoreceptor outer segment; cytoskeleton; apical part of cell; cytoplasm; plasma membrane; synapse; cytosol
Molecular Function: protein binding; spectrin binding
Biological Process: inner ear morphogenesis; parallel actin filament bundle formation; sensory perception of sound; sensory perception of light stimulus; photoreceptor cell maintenance; auditory receptor cell differentiation; G2/M transition of mitotic cell cycle; equilibrioception
Reference #:  Q9Y6N9 (UniProtKB)
Alt. Names/Synonyms: AIE-75; AIE75; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; DFNB18; Harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; USH1C; ush1cpst; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome type-1C protein
Gene Symbols: USH1C
Molecular weight: 62,211 Da
Basal Isoelectric point: 5.36  Predict pI for various phosphorylation states
Select Structure to View Below

USH1C

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

► Hide Isoforms
 
0 1 K12 VAREFRHKVDFLIEN
0 2 S101-p HPEGLGLsVRGGLEF
0 1 S198 ESGGVRGSLGsPGNR
0 1 S201-p GVRGSLGsPGNRENK
0 1 S219 VFISLVGSRGLGCSI
0 1 S287 SSRSLTISIVAAAGR
0 2 S327 QKRLAMESNKILQEQ
0 1 K358 EENERYRKEMEQIVE
0 1 V364 RKEMEQIVEEEEKFK
0 1 K371 VEEEEKFKKQWEEDW
0 1 S380 QWEEDWGSKEQLLLP
0 2 Y404-p VPLRKPKyDQGVEPE
0 2 - gap
0 2 - gap
0 2 - gap
0 1 - gap
0 1 - gap
0 1 - gap
0 2 Y440 YEEGFDPYSMFTPEQ
0 1 Y485 KVVVSAVYERGAAER
  USH1C iso5  
K12 VAREFRHKVDFLIEN
S101 HPEGLGLSVRGGLEF
S198-p ESGGVRGsLGSPGNR
S201 GVRGsLGSPGNRENK
S219 VFISLVGSRGLGCSI
S287-p SSRSLTIsIVAAAGR
S327-p QKRLAMEsNKILQEQ
K358 EENERYRKEMEQIVE
V364 RKEMEQIVEEEEKFK
K371 VEEEEKFKKQWEEDW
S380 QWEEDWGSKEQLLLP
- gap
K421-ac KFPTIRKkGKDkkKA
K425-ac IRKkGKDkkKAKYGS
K426-ac RKkGKDkkKAKYGSL
S432 kkKAKYGSLQDLRKN
Y450-p LEFEQKLykEKEEML
K451-ac EFEQKLykEKEEMLE
Y740-p YEEGFDPySMFTPEQ
Y785-p KVVVSAVyERGAAER
  mouse

► Hide Isoforms
 
K12-ub VAREFRHkVDFLIEN
S101 HPEGLGLSVRGGLEF
G198 ESGGVRGGLGSPGNR
S201 GVRGGLGSPGNRTTK
S219-p VFISLVGsRGLGCSI
S287 SSRSLTISIVAGAGR
S327-p QKRLAMEsNKILQEQ
K358-ac EENERYRkEMEQISE
S364 RkEMEQISEEEEKFk
K371-ac SEEEEKFkKQWEEDW
S380-p QWEEDWGsKEQLILP
- gap
K421 KFPTIRKKAKEKKKA
K425 IRKKAKEKKKAKYDs
K426 RKKAKEKKKAKYDsL
S432-p KKKAKYDsLQDLRKN
Y450 LEFEQKLYKEKEEML
K451 EFEQKLYKEKEEMLE
Y740 YEEGFDPYSMFSPEQ
Y785 KVVVSAVYEGGAAER
  USH1C iso3  
K12 VAREFRHKVDFLIEN
S101 HPEGLGLSVRGGLEF
G198 ESGGVRGGLGSPGNR
S201 GVRGGLGSPGNRTTK
S219 VFISLVGSRGLGCSI
S287 SSRSLTISIVAGAGR
S327 QKRLAMESNKILQEQ
K358 EENERYRKEMEQISE
S364 RKEMEQISEEEEKFK
K371 SEEEEKFKKQWEEDW
S380 QWEEDWGSKEQLILP
Y404 VPLRKPKYDQGVEPA
- gap
- gap
- gap
- gap
- gap
- gap
Y436 YEEGFDPYSMFSPEQ
Y481 KVVVSAVYEGGAAER
  rat

 
K12 VAREFRHKVDFLIEN
S101 HPEGLGLSVRGGLEF
G198 ESGGVRGGLSsPGNR
S201-p GVRGGLSsPGNRTTK
S219-p VFISLVGsRGLGCSI
S287 SSRSLTISIVAGAGR
S327 QKRLAMESNKILQEQ
K358 EENERYRKEMEQIsE
S364-p RKEMEQIsEEEEKFK
K371 sEEEEKFKKQWEEDW
S380-p QWEEDWGsKEQLILP
Y404 VPLRKPKYDQGVEPA
- gap
- gap
- gap
- gap
- gap
- gap
Y436 YEEGFDPYSMFSPEQ
Y481 KVVVSAVYEGGAAER
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