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Protein Page:
RPGRIP1 (human)

Overview
RPGRIP1 Essential for RPGR function and is also required for normal disk morphogenesis. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in RPGRIP1 are the cause of cone-rod dystrophy type 13 (CORD13). An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Belongs to the RPGRIP1 family. 6 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 14q11
Cellular Component: nonmotile primary cilium; axoneme
Molecular Function: protein binding
Biological Process: eye photoreceptor cell development; visual perception; retina development in camera-type eye; response to stimulus
Reference #:  Q96KN7 (UniProtKB)
Alt. Names/Synonyms: CORD13; DKFZp686P0897; LCA6; retinitis pigmentosa GTPase regulator interacting protein 1; RGI1; RGRIP; RPGR-interacting protein 1; RPGR1; RPGRIP; RPGRIP1; RPGRIP1d; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Gene Symbols: RPGRIP1
Molecular weight: 146,682 Da
Basal Isoelectric point: 5.47  Predict pI for various phosphorylation states
Select Structure to View Below

RPGRIP1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

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 S9-p SHLVDPTsGDLPVRD
0 1 T76-p DEIKRLRtTLLRLTA
0 2 N375 EKERKLLNDNYDKLL
0 2 S502-p NQEEKKLsQVLNELQ
0 2 S511-p VLNELQVsHAETTLE
0 2 T522-p TTLELEKtRDMLILQ
0 1 Y536-p QRKINVCyQEELEAM
0 1 Y823-p LGTQPSPyAVyRFFT
0 1 Y826-p QPSPyAVyRFFTFSD
0 1 Y846-p IPASNNPyFRDQARF
0 25 Y864-p VTSDLDHyLRREALS
0 1 Y929-p QLDWKFPyIPPESFL
0 1 T947-p AQTKGKDtKDSSKIS
0 1 S1001-p EKEHQVVsysRRKHG
0 2 Y1002-p KEHQVVsysRRKHGK
0 1 S1003-p EHQVVsysRRKHGKR
0 1 F1048 KFSETNSFIGDGFKN
0 1 L1064 HEEEEMTLSHSALKQ
0 1 S1091-p SEQGSEVsEAQTTDS
0 1 S1115-p QKYPKADsEKMCIEI
  mouse

 
P9 QHLLEYMPEDLPVRD
T75 DKNRRRRTNVQRSTT
S336-p EKERKLLsDSYDRLL
S466 AQDENDLSQVLSELQ
S475 VLSELQVSHAETTLE
T486 TTLELEKTRDMLLLQ
Y500 QRKINMCYQEELEAT
Y787 LGRQPSPYVMYRFFT
Y790 QPSPYVMYRFFTFPD
Y810 IPASSNPYFKDQALF
Y828 VTSDLDQYLRREALS
Y893 QLDWKSHYLAPEGFQ
N988 EEEEEDENKDVLEAS
S1042 EREHQVASYSRRKHS
Y1043 REHQVASYSRRKHSK
S1044 EHQVASYSRRKHSKK
A1088 KFSGLKKAEDGGLKA
- under review  
S1136 CEQASEVSETQTTDS
S1160 QTVPKADSEKMCIEI
  rat

 
P87 LHLLDHMPEDRPVRD
T153 DKSRRPRTNMKRSTT
S414-p ESERKLLsDSYDRLL
S544 VQEESSLSQVLNELQ
S553 VLNELQVSHAETALE
T564 TALELEKTRDMLLLQ
Y578 QRKINLCYQEELEAT
Y865 GGRQPSPYVMYRFFT
Y868 QPSPYVMYRFFTFPD
Y888 IPASSDPYFKDQALF
Y906 VTSDLDEYLRREALS
H971 QLDWKSHHLPPESLQ
N1069 EKEKEKENKDGLEVS
S1123 EKERQVTSYSRRKHS
Y1124 KERQVTSYSRRKHSK
S1125 ERQVTSYSRRKHSKK
Y1169-p KFSGLKMyEDDGLKV
S1185-p QKEEEQPsPHSALRQ
S1217 SEQASEVSEAHTPDS
S1241 QTCPKADSEKMCIEI
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