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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
H3BV03
I3L1B5
Q68CZ1	Nephrocystin-8 RPGR-interacting protein 1-like protein
A0A087WX34
H3BPS4
B7ZKJ9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 20 in total

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GO Term	Evidence Code	PMID
embryonic hindlimb morphogenesis	IEA
lateral ventricle development	IEA
olfactory bulb development	IEA
pericardium development	IEA
cochlea 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]

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 14 in total

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GO Term	Evidence Code	PMID
axonemal microtubule	IEA
plasma membrane	IDA
nucleoplasm	IDA
photoreceptor connecting cilium	IBA
cell-cell junction	IDA	21565611

GO Hierarchy

cellular component

cellular anatomical entity [inference]

microtubule organizing center [inference]

membrane [inference]

plasma membrane

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 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	17558407 19430481 21565611 27173435
thromboxane A2 receptor binding	IBA 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

uncharacterized protein

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 entries **1 - 10** of 11 in total

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DO ID	Disease Name	Source
DOID:0050753	cerebellar ataxia	Alliance of Genome Resources
DOID:0050778	Meckel syndrome	Alliance of Genome Resources
DOID:0060340	ciliopathy	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

Ortholog

Displaying entries **1 - 10** of 74 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	174654		WB:WBGene00007490
Mus musculus	244585		MGI:1920563	MOUSE59149
Rattus norvegicus	307724		RGD:1311099	RATNO14462
Pan troglodytes	454089	9598_0:004057		PANTR12360
Canis lupus familiaris	487278			CANLF06846
Bos taurus	518659			BOVIN10435
Danio rerio	557688		ZFIN:ZDB-GENE-081104-81	DANRE26905
Macaca mulatta	697345			MACMU26037
Monodelphis domestica	100019295			MONDO07127
Ornithorhynchus anatinus	100090889			ORNAN02773

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Last updated: December 9, 2024