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Protein Page:
USH2A (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
USH2A Involved in hearing and vision. Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Membrane protein, integral; Motility/polarity/chemotaxis
Cellular Component: stereocilium bundle; apical plasma membrane; cytoplasm; integral to membrane; basement membrane
Molecular Function: collagen binding; protein binding; myosin binding
Biological Process: sensory perception of sound; inner ear receptor cell differentiation; visual perception; sensory perception of light stimulus; photoreceptor cell maintenance; response to stimulus; hair cell differentiation; maintenance of organ identity
Reference #:  O75445 (UniProtKB)
Alt. Names/Synonyms: dJ1111A8.1; RP39; US2; USH2; USH2A; Usher syndrome 2A (autosomal recessive, mild); Usher syndrome type IIa protein; Usher syndrome type-2A protein; Usherin
Gene Symbols: USH2A
Molecular weight: 575,600 Da
Basal Isoelectric point: 6.4  Predict pI for various phosphorylation states
Select Structure to View Below

USH2A

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 S147-p PSPKLMAsFTLAVWL
0 1 Y463-p ILTPGPNyRPGyNNF
0 1 Y467-p GPNyRPGyNNFyNTP
0 1 Y471-p RPGyNNFyNTPSLQE
0 1 T529-p GHADNCDttsQPyRC
0 1 T530-p HADNCDttsQPyRCL
0 1 S531-p ADNCDttsQPyRCLC
0 2 Y534-p CDttsQPyRCLCSQE
0 1 S583-p QCNSHSKsCHyNIsV
0 1 Y586-p SHSKsCHyNIsVDPF
0 1 S589-p KsCHyNIsVDPFPFE
0 1 S864-p GSLLCNKstGQCPCK
0 1 T865-p SLLCNKstGQCPCKL
0 1 T875 CPCKLGVTGLRCNQC
0 1 S1256-p PKMQKISsTELHVEW
0 1 T1257 KMQKISsTELHVEWS
0 1 Y1276 LNGIIIRYELYMRRL
0 1 Y1279 IIIRYELYMRRLRST
0 1 T1327-p PQTMTTItGLEPYTK
0 1 Y1909-p GNDSILVyQGKEQSV
0 2 Y1917-p QGKEQSVyEGGLQPF
0 1 T1925-p EGGLQPFtEyLYRVI
0 2 Y1927-p GLQPFtEyLYRVIAS
0 1 T1949-p SDWSRGRttGAAPQS
0 1 T1950-p DWSRGRttGAAPQSV
0 1 S1961-p PQSVPTPsRVRSLNG
0 1 T2911-p VHNSVGFtPSREVTV
0 1 T2919-p PSREVTVttLAGLPE
0 1 T2920-p SREVTVttLAGLPER
0 1 T3435 IRGSHNSTGKASIEE
0 2 T3494-p SKAVRARtKEDVPQG
0 2 T3508-p GVSPPTWtKIDNLED
0 1 N3512 PTWtKIDNLEDTIVL
0 1 S3611-p VALHLSWsVPEKsNG
0 1 S3616-p SWsVPEKsNGVIKEy
0 1 Y3623-p sNGVIKEyQIRQVGK
0 1 Y3745-p NLEPNSRyTyKLEVK
0 1 Y3747-p EPNSRyTyKLEVKTG
0 1 Y4487-p RRDGTIVyTGLETRY
0 1 S5039-p SKSTEFYsELWFIVL
0 1 S5060-p ILLAIFLsLILQRKI
0 1 S5087-p VPLQKRMsPLNVyPP
0 1 Y5092-p RMsPLNVyPPGENHM
0 1 T5104-p NHMGLADtKIPRSGT
  mouse

 
E144 RAPRLAAELTLAVWL
H460 LLTSGQKHRPGYNDF
Y464 GQKHRPGYNDFYNSS
Y468 RPGYNDFYNSSVLQE
R526 GHAETCDRTRRPYRC
T527 HAETCDRTRRPYRCL
R528 AETCDRTRRPYRCLC
Y531 CDRTRRPYRCLCSPH
S580 QCHGHASSCHYDASV
Y583 GHASSCHYDASVDPF
S586 SSCHYDASVDPFPLE
S861 GSLRCDKSTGQCPCK
T862 SLRCDKSTGQCPCKL
T872-p CPCKLGVtGLRCHQC
P1253 PTVWKISPtELRIEW
T1254-p TVWKISPtELRIEWS
Y1273-p SNGIIISyELyMRRW
Y1276-p IIISyELyMRRWLST
S1321 PQASTFISGLEPHTE
Y1900 GNDSILVYRGSQQSV
Y1908 RGSQQSVYESGLQPF
T1916 ESGLQPFTEYLYRVT
Y1918 GLQPFTEYLYRVTAS
T1940 SDWSRGRTLGTAPQS
L1941 DWSRGRTLGTAPQSV
S1952 PQSVPTPSRAQSING
T2902 VHNSVGFTPSREVTV
T2910 PSREVTVTTLAGSPE
T2911 SREVTVTTLAGSPER
T3427-p MRGPLNPtGKKAVEG
T3486 SQSVRASTREDVPEG
A3500 GVKAPRWARTGkHED
K3504-ac PRWARTGkHEDVIFL
S3603 ETLHLSWSVPEKMKD
M3608 SWSVPEKMKDAIKAY
Y3615 MKDAIKAYQLWLDGK
Y3737 NLEPGSRYIYKLEAR
Y3739 EPGSRYIYKLEARTG
Y4479 RRDGAIVYVGLETRY
S5030 TKSTEFYSELWFIMV
S5051 ILLAIFLSLILQRKI
T5078 VPLQKRMTPLSVYPP
Y5083 RMTPLSVYPPGETHV
T5095 THVGLADTRLPRSGT
  rat

 
E143 QAPRLAAEFTLAVWL
H459 LLTSGQKHRPGDYDF
D463 GQKHRPGDYDFYNSS
Y467 RPGDYDFYNSSLLQE
- under review  
- under review  
- under review  
Y530 CDRTRRPYRCLCSPH
S579 QCHGHASSCHYDASM
Y582 GHASSCHYDASMDPF
S585 SSCHYDASMDPFPLE
S860 GSLLCDKSTGQCPCK
T861 SLLCDKSTGQCPCKL
T871 CPCKLGVTGLRCHQC
P1252 PTVWKISPTELKVEW
T1253 TVWKISPTELKVEWS
Y1272 SNGVIIRYELYMKRW
Y1275 VIIRYELYMKRWPST
S1320 PQVSTVLSGLDPHTE
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- under review  
- gap
- under review  
- gap
- gap
- gap
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