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centrosomal protein 290

Summary

Gene Symbol

Cep290

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

216274

PubChem

216274

Alliance of Genome Resources

MGI:2384917

Annotation

Keyword

Activator
Alternative splicing
Cell projection
Cilium
Cilium biogenesis/degradation
Coiled coil
Cytoplasmic vesicle
Cytoskeleton
Nucleus
Protein transport
Proteomics identification
Reference proteome
Transcription regulation
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q6A078	Bardet-Biedl syndrome 14 protein homolog Nephrocystin-6
E9Q9M0

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 32 in total

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GO Term	Evidence Code	PMID
microtubule cytoskeleton organization	IGI	29899041
kidney development	IMP	27002738
kidney development	IBA
establishment or maintenance of cell polarity	IMP	22832925
determination of left/right symmetry	IMP	25807483

GO Hierarchy

biological process

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization

establishment or maintenance of cell polarity

membrane docking [inference]

organelle localization by membrane tethering [inference]

ciliary basal body-plasma membrane docking

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

photoreceptor cell development [inference]

eye photoreceptor cell development

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization

establishment of protein localization [inference]

protein transport

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization

cilium organization [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

ciliary transition zone assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

multicellular organismal process [inference]

pattern specification process [inference]

specification of symmetry [inference]

determination of bilateral symmetry [inference]

determination of left/right symmetry

photoreceptor cell maintenance

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

tube formation [inference]

epithelial tube formation [inference]

otic vesicle formation

anatomical structure development [inference]

hindbrain development

cell development [inference]

neuron development [inference]

photoreceptor cell development [inference]

eye photoreceptor cell development

animal organ development [inference]

kidney development

pronephros development

sensory organ development [inference]

eye development [inference]

camera-type eye development

heart development

retina development in camera-type eye

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

photoreceptor cell development [inference]

eye photoreceptor cell development

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization

establishment of protein localization [inference]

protein transport

establishment of localization [inference]

transport [inference]

organic substance transport [inference]

protein transport

nitrogen compound transport [inference]

protein transport

establishment of protein localization [inference]

protein transport

organelle localization [inference]

organelle localization by membrane tethering [inference]

ciliary basal body-plasma membrane docking

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization

establishment of protein localization [inference]

protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of localization [inference]

regulation of transport [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

regulation of intracellular protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

regulation of intracellular protein transport [inference]

positive regulation of intracellular protein transport

regulation of protein localization [inference]

regulation of establishment of protein localization

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular protein transport

regulation of intracellular protein transport [inference]

positive regulation of intracellular protein transport

regulation of protein localization [inference]

regulation of establishment of protein localization

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport

Displaying entries **1 - 5** of 25 in total

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GO Term	Evidence Code	PMID
photoreceptor outer segment	IDA	23943788
nucleus	ISS
nucleus	ISO
cytoplasm	ISO
centrosome	ISS

GO Hierarchy

cellular component

protein-containing complex

MKS complex

cellular anatomical entity [inference]

photoreceptor outer segment

rod photoreceptor outer segment

cytoplasm

microtubule organizing center [inference]

ciliary transition zone

photoreceptor connecting cilium

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

centriole

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular non-membrane-bounded organelle [inference]

centriole

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	16632484 17898177 17920017 18694559 21565611
identical protein binding	ISO
microtubule minus-end binding	ISS

GO Hierarchy

molecular function

binding [inference]

protein binding

cytoskeletal protein binding [inference]

tubulin binding [inference]

microtubule binding [inference]

microtubule minus-end binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

centrosomal protein

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
cell projection organization
ciliary basal body-plasma membrane docking
ciliary transition zone assembly
kidney development

Displaying 1 entry
InterPro
Centrosomal protein of 290kDa

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0050545	visceral heterotaxy	Alliance of Genome Resources
DOID:0110291	Leber congenital amaurosis 10	Alliance of Genome Resources
DOID:0111000	Joubert syndrome 5	Alliance of Genome Resources
DOID:2975	cystic kidney disease	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 63 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Homo sapiens	80184		HUMAN14557
Xenopus tropicalis	216274	Xenbase:XB-GENE-1221198
Bos taurus	282707		BOVIN28935
Rattus norvegicus	314787		RATNO37032
Pan troglodytes	452113		PANTR06532
Canis lupus familiaris	482591		CANLF04211
Danio rerio	560588		DANRE27277
Macaca mulatta	708286		MACMU04660
Ornithorhynchus anatinus	100080813		ORNAN06422
Felis catus	100113471		FELCA17311

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements