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RPGR and SMC1A
Data Source:
BioGRID
(pull down)
HPRD
(in vivo, in vitro)
RPGR
SMC1A
Description
retinitis pigmentosa GTPase regulator
structural maintenance of chromosomes 1A
Image
GO Annotations
Cellular Component
Photoreceptor Outer Segment
Golgi Apparatus
Centrosome
Ciliary Basal Body
Sperm Flagellum
Chromosome, Centromeric Region
Kinetochore
Condensed Chromosome Kinetochore
Condensed Nuclear Chromosome
Nucleus
Nucleoplasm
Chromosome
Cytosol
Cohesin Complex
Nuclear Matrix
Meiotic Cohesin Complex
Mitotic Spindle Pole
Molecular Function
RNA Binding
Guanyl-nucleotide Exchange Factor Activity
Protein Binding
DNA Binding
Chromatin Binding
RNA Binding
Protein Binding
ATP Binding
Mediator Complex Binding
Protein Heterodimerization Activity
Biological Process
Intracellular Protein Transport
Visual Perception
Intraciliary Transport
Regulation Of Catalytic Activity
Response To Stimulus
Cilium Assembly
Mitotic Sister Chromatid Segregation
DNA Repair
Sister Chromatid Cohesion
Mitotic Sister Chromatid Cohesion
Response To Radiation
Stem Cell Population Maintenance
Cell Division
Meiotic Cell Cycle
Response To DNA Damage Checkpoint Signaling
Mitotic Spindle Assembly
Pathways
Meiotic synapsis
Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression
Drugs
Diseases
Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
Retinitis pigmentosa (RP)
Cornelia de Lange syndrome (CdLS)
GWAS
Bipolar disorder (
31043756
)
Mean corpuscular volume (
32888494
)
Interacting Genes
14 interacting genes:
DCTN1
DCTN2
HOMEZ
IFT88
KIF3A
KIFAP3
NPM1
PDE6D
RPGRIP1
SLC25A10
SMC1A
SMC3
TUBG1
YWHAE
20 interacting genes:
AMOT
ATM
BLM
BRCA1
ESR1
FGF14
MCM6
MCM7
MDC1
MET
MSH2
MSH6
NDC80
NUMA1
POLA1
RAD21
RFC1
RPGR
SMC3
SUMO2
Entrez ID
6103
8243
HPRD ID
02425
02077
Ensembl ID
ENSG00000156313
ENSG00000072501
Uniprot IDs
Q92834
A0A384MR33
G8JLG1
Q14683
Q68EN4
PDB IDs
4JHN
4JHP
4QAM
6WG3
6WG4
6WG6
6WGE
Enriched GO Terms of Interacting Partners
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Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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