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RPGRIP1 like

Summary

Gene Symbol

RPGRIP1L

Organism

Homo sapiens (human)

External Links

NCBI Gene

23322

PubChem

23322

Alliance of Genome Resources

HGNC:29168

JoGo

RPGRIP1L

TogoVar

RPGRIP1L

Annotation

Keyword

3D-structure
Alternative splicing
Cilium
Coiled coil
Cytoskeleton
Disease variant
Joubert syndrome
Meckel syndrome
Proteomics identification
Reference proteome
Repeat
Tight junction

Proteins

Displaying **all 6** entries
UniProt	Protein Name
B7ZKJ9	Nephrocystin-8 RPGR-interacting protein 1-like protein
H3BPS4
Q68CZ1	Nephrocystin-8 RPGR-interacting protein 1-like protein
A0A087WX34	Nephrocystin-8 RPGR-interacting protein 1-like protein
H3BV03	Nephrocystin-8 RPGR-interacting protein 1-like protein
I3L1B5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **11 - 15** of 21 in total

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GO Term	Evidence Code	PMID
olfactory bulb development	IEA
corpus callosum development	IEA
embryonic forelimb morphogenesis	IEA
embryonic hindlimb morphogenesis	IEA
camera-type eye development	IEA

GO Hierarchy

biological process

cellular process [inference]

establishment or maintenance of cell polarity

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

photoreceptor cell development [inference]

eye photoreceptor cell development [inference]

retinal rod cell development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cilium organization [inference]

cilium assembly [inference]

non-motile cilium assembly

organelle assembly [inference]

cilium assembly [inference]

non-motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly [inference]

non-motile cilium assembly

organelle assembly [inference]

cilium assembly [inference]

non-motile cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly [inference]

non-motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly [inference]

non-motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly [inference]

non-motile cilium assembly

multicellular organismal process [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

pattern specification process [inference]

regionalization [inference]

neural tube patterning

specification of symmetry [inference]

determination of bilateral symmetry [inference]

determination of left/right symmetry

developmental process [inference]

anatomical structure morphogenesis [inference]

establishment of tissue polarity [inference]

establishment of planar polarity

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis [inference]

forelimb morphogenesis [inference]

embryonic forelimb morphogenesis

hindlimb morphogenesis [inference]

embryonic hindlimb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis [inference]

anatomical structure development [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

tissue development [inference]

epithelium development [inference]

pericardium development

cell development [inference]

neuron development [inference]

photoreceptor cell development [inference]

eye photoreceptor cell development [inference]

retinal rod cell development

animal organ development [inference]

kidney development

sensory organ development [inference]

eye development [inference]

camera-type eye development

nose development

gland development [inference]

liver development

cochlea development

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

photoreceptor cell development [inference]

eye photoreceptor cell development [inference]

retinal rod cell development

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of G protein-coupled receptor signaling pathway [inference]

negative regulation of G protein-coupled receptor signaling pathway

regulation of smoothened signaling pathway

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of G protein-coupled receptor signaling pathway [inference]

negative regulation of G protein-coupled receptor signaling pathway

regulation of smoothened signaling pathway

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of G protein-coupled receptor signaling pathway [inference]

negative regulation of G protein-coupled receptor signaling pathway

regulation of smoothened signaling pathway

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of G protein-coupled receptor signaling pathway

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
nucleoplasm
cytoplasm	IDA	17558409
centrosome	IDA	17558409 21399614
cytosol	TAS
cytosol	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

microtubule organizing center [inference]

membrane [inference]

plasma membrane

nuclear body [inference]

nuclear speck

cell junction [inference]

anchoring junction [inference]

cell-cell junction

tight junction [inference]

bicellular tight junction

ciliary rootlet

ciliary transition zone

photoreceptor connecting cilium

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

microtubule [inference]

cytoplasmic microtubule [inference]

axonemal microtubule

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	17558407 19430481 21565611 27173435
thromboxane A2 receptor binding	IBA
thromboxane A2 receptor binding	IPI	19464661

GO Hierarchy

molecular function

binding [inference]

protein binding

signaling receptor binding [inference]

G protein-coupled receptor binding [inference]

prostanoid receptor binding [inference]

thromboxane A2 receptor binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 9** entries
DO ID	Disease Name	Source
DOID:0050753	cerebellar ataxia	Alliance of Genome Resources
DOID:0060668	anencephaly	Alliance of Genome Resources
DOID:0070119	Meckel syndrome 5	Alliance of Genome Resources
DOID:0110414	retinitis pigmentosa 3	Alliance of Genome Resources
DOID:0111002	Joubert syndrome 7	Alliance of Genome Resources
DOID:1059	intellectual disability	Alliance of Genome Resources
DOID:12712	nephronophthisis	Alliance of Genome Resources
DOID:2975	cystic kidney disease	Alliance of Genome Resources
DOID:8725	vascular dementia	Alliance of Genome Resources