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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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements