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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

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 **1 - 5** of 21 in total

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GO Term	Evidence Code	PMID
in utero embryonic development	IEA
establishment of planar polarity	IEA
kidney development	IEA
liver development	IEA
establishment or maintenance of cell polarity	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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Protein fantom

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 2** entries
Gene Ontology
retinal rod cell development
thromboxane A2 receptor binding

Displaying **all 4** entries
InterPro
C2 domain superfamily
RPGR-interacting protein 1, first C2 domain
RPGRIP1 family
RPGRIP1, C-terminal

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

Ortholog

Displaying entries **1 - 10** of 71 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	23322	Xenbase:XB-GENE-5831952
Mus musculus	244585		MOUSE59149
Rattus norvegicus	307724		RATNO14462
Pan troglodytes	454089		PANTR12360
Canis lupus familiaris	487278		CANLF06846
Bos taurus	518659		BOVIN10435
Danio rerio	557688		DANRE26905
Macaca mulatta	697345		MACMU26037
Monodelphis domestica	100019295		MONDO07127
Ornithorhynchus anatinus	100090889		ORNAN02773

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements