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> Protein (NX_Q96KN7)
Protein (NX_Q96KN7)
Protein
Gene SymbolRPGRIP1 to neXtProt (NX_Q96KN7)
DescriptionX-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Chromosome14
Location14q11.2 (21756098 ~ 21819460) to Ensembl
Sequene Features : Isoforms 6, Variants 209, PTMsto neXtProt Sequence Features
Gene
Ontologies
GO: Biological Process GO: Mulecular Function GO: Cellular Component
.retina development in camera-type eye
.response to stimulus
.eye photoreceptor cell development
.visual perception
.N/A .photoreceptor connecting cilium
.axoneme
Proteomic Evidences
ReleaseProtein EvidencePrAbIsoformsVariantsPTMs
2015-01-01protein level
6 209 0
2014-09-19protein level
6 159 0
2014-05-27protein level
6 157 0
2014-02-25protein level
6 157 0
2013-12-09protein level
6 123 0
2013-11-01protein level
6 123 0
2013-09-12protein level
6 123 0
2013-08-17protein level
6 123 0
2013-07-15protein level
6 82 0
2013-06-11protein level
6 82 0
2013-02-12protein level
6 53 0
2012-12-20protein level
6 52 0
2012-10-30protein level
6 68 0
2012-10-07protein level
6 68 0
2012-08-24protein level
6 67 0
2012-07-28protein level
6 67 0
2012-06-08protein level
6 71 0
2012-05-07protein level
6 61 0
2012-04-10protein level
6 61 0
2012-01-13protein level
6 41 0
2011-12-20protein level
6 41 0
2011-11-11protein level
6 52 0
2011-08-23protein level
6 33 0
Protein Isoforms
Isoform Ac UGSMw (Da)
NX_Q96KN7-1
17 38 0 146589.7988
NX_Q96KN7-2
1 30 0 76323.5474
NX_Q96KN7-3
3 30 0 74131.6468
NX_Q96KN7-4
2 24 0 70007.9299
NX_Q96KN7-5
0 39 0 103059.1941
NX_Q96KN7-6
0 21 0 66278.1131
: Uniquely mapped peptide
: Gene-specific peptide
: Shared peptide
Interacting Partners
No. Exp. ref. Symbol   PE Pr Ab Di   GO: Biological Process GO: Mulecular Function GO: Cellular Component
1 EBI-1050213,EBI-1057615 MAGEB2  
  .N/A .N/A .N/A
2 EBI-1050213,EBI-10239155 CSPP1  
  .positive regulation of cell division
.positive regulation of cytokinesis
.N/A .microtubule
.spindle
.centrosome
  + 3 more...
3 EBI-1050213,EBI-10247271 FAM74A6  
  .N/A .N/A .N/A
4 EBI-1050213,EBI-710457 DPPA4  
  .lung-associated mesenchyme development
.regulation of transcription, DNA-templated
.transcription, DNA-templated
.N/A .nucleus
5 EBI-1050213,EBI-10247802 CCDC146  
  .N/A .N/A .centriole
6 EBI-1050213,EBI-10189722 RPP25L  
  .N/A .poly(A) RNA binding .nucleus
7 EBI-1050213,EBI-740727 ZNF417  
  .regulation of transcription, DNA-templated
.transcription, DNA-templated
.metal ion binding
.DNA binding
.nucleus
8 EBI-1050213,EBI-10273713 ZNF564  
  .regulation of transcription, DNA-templated
.transcription, DNA-templated
.metal ion binding
.DNA binding
.nucleus
9 EBI-1050213,EBI-8637627 AEN  
  .nucleic acid phosphodiester bond hydrolysis
.intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
.response to ionizing radiation
.exonuclease activity
.nucleic acid binding
.nuclear membrane
.nucleolus
.nucleoplasm
.nucleus
10 EBI-1050213,EBI-923440 GATAD2B  
  .ATP-dependent chromatin remodeling
.transcription, DNA-templated
.sequence-specific DNA binding
.zinc ion binding
.sequence-specific DNA binding transcription factor activity
.protein complex
.nuclear speck
.nucleoplasm
.nuclear chromatin
11 EBI-1050213,EBI-6558417 RPGR  
  .response to stimulus
.eye photoreceptor cell development
.cilium assembly
  + 3 more...
.poly(A) RNA binding
.guanyl-nucleotide exchange factor activity
.sperm flagellum
.ciliary basal body
.centrosome
  + 2 more...
12 EBI-1050213,EBI-2515330 FEM1C  
  .protein ubiquitination .N/A .cytoplasm
13 EBI-1050213,EBI-492476 TRIB3  
  .intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
.positive regulation of ubiquitin-protein transferase activity
.phosphatidylinositol-mediated signaling
  + 21 more...
.ubiquitin-protein transferase regulator activity
.ubiquitin protein ligase binding
.mitogen-activated protein kinase kinase binding
  + 5 more...
.plasma membrane
.cytosol
.nucleoplasm
.nucleus
14 EBI-1050213,EBI-748391 SCNM1  
  .RNA splicing
.mRNA processing
.metal ion binding
.enzyme binding
.nuclear speck
.nucleolus
.nucleus
15 EBI-1050213,EBI-712912 CBX8  
  .cellular protein metabolic process
.post-translational protein modification
.protein sumoylation
  + 3 more...
.methylated histone binding
.ubiquitin-protein transferase activity
.single-stranded RNA binding
.PRC1 complex
.PcG protein complex
.nucleoplasm
  + 3 more...
16 EBI-1050213,EBI-751092 HEYL  
  .negative regulation of androgen receptor activity
.proximal tubule development
.cellular response to BMP stimulus
  + 16 more...
.AF-1 domain binding
.protein heterodimerization activity
.microsatellite binding
  + 8 more...
.cytoplasm
.nucleoplasm
.nucleus
17 EBI-1050213,EBI-743375 CHCHD3  
  .mitochondrial fusion
.inner mitochondrial membrane organization
.negative regulation of transcription from RNA polymerase II promoter
.protein complex scaffold
.phosphatase binding
.RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
.extracellular exosome
.mitochondrial inner membrane
.mitochondrion
  + 2 more...
18 EBI-1050213,EBI-3258000 TBC1D7  
  .negative regulation of cilium assembly
.activation of GTPase activity
.response to growth factor
  + 2 more...
.Rab GTPase binding
.GTPase activator activity
.ciliary basal body
.cytoplasmic vesicle
.cytoplasmic membrane-bounded vesicle
19 EBI-1050213,EBI-714987 ZNF337  
  .regulation of transcription, DNA-templated
.transcription, DNA-templated
.metal ion binding
.DNA binding
.nucleus
EST expression level of Protein Coding Gene (ref. NCBI UniGene EST)
Body Sites
TissuesTPM*
blood8
brain3
eye9
muscle37
testis204
uterus8
Health State
TissuesTPM*
normal27
germ cell tumor22
Developmental Stage
TissuesTPM*
adult7
fetus5
TPM*: Transcripts per million; transcript expression level measured by expression sequence tags.
Expression level of Protein (ref. Human Protein Atlas)
RNA-Seq.
TissuesFPKM
placenta1.3
spleen1.9
testis48.4
Cancer
TumorNumber of patients and Staining levels
breast cancer
carcinoid
cervical cancer
colorectal cancer
endometrial cancer
glioma
head and neck cancer
liver cancer
lung cancer
lymphoma
melanoma
ovarian cancer
pancreatic cancer
prostate cancer
renal cancer
skin cancer
stomach cancer
testis cancer
thyroid cancer
urothelial cancer
RNA-seq colour codes
Highly expressed RNAs (FPKM >50)
Moderately expressed RNAs (50> FPKM >10)
Lower expressed RNAs (10> FPKM >1)
The lowest expressed RNAs (FPKM value of 0 or 1)
Staining level colour codes
Highly expressed protein
Moderately expressed protein
Lower expressed protein
Not Detected
Disease
No.Disease DescriptionRef.
1(*605446, gene) Retinitis pigmentosa gtpase regulator-interacting protein; RPGRIP1OMIM
2(#608194, phenotype) Cone-rod dystrophy 13; CORD13OMIM
3(#613826, phenotype) Leber congenital amaurosis 6; LCA6OMIM


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