Cep290 centrosomal protein 290 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep290provided by MGI
Official Full Name: centrosomal protein 290provided by MGI
Primary source: MGI:MGI:2384917
See related: Ensembl:ENSMUSG00000019971 AllianceGenome:MGI:2384917
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nphp6; b2b1454Clo; b2b1752Clo
Summary: Predicted to enable identical protein binding activity. Involved in cilium assembly; microtubule cytoskeleton organization; and protein transport. Acts upstream of or within several processes, including cilium assembly; photoreceptor cell maintenance; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is active in rod photoreceptor outer segment. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in CNS E11.5 (RPKM 1.5), testis adult (RPKM 1.4) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D1; 10 51.48 cM

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (100323410..100409527)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (100487548..100575671)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.
Title: Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.
Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.
Title: Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.
Cep290 deficiency is associated with Retinal Degeneration.
Title: A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.
These findings indicate that antisense oligonucleotide treatment may represent a promising therapeutic approach for kidney disease in CEP290-associated ciliopathy syndromes.
Title: Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Study describes a mouse model of Leber's Congenital Amaurosis type 10 with in-frame mutation in Cep290 gene. The mutants show a rapid retinal degeneration in the rod-rich mouse retina .
Title: Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis.
Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
Title: Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Cep290(ko/ko) mice exhibit early vision loss and die from hydrocephalus.
Title: CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.
The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl-/- murine model.
Title: Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.
Title: DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
The recognition of the cryptic exon introduced by the c.2991+1655A>G mutation in CEP290 indeed is species-dependent, and seems to correlate to the evolutionary distance to humans.
Title: Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2)
Endonuclease-mediated (5)
Gene trapped (1)
Spontaneous (1) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:225138

AW551239 (e-PCR)
- UniSTS:180112

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
NOT enables microtubule minus-end binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in camera-type eye development	IBA Inferred from Biological aspect of Ancestor more info
involved_in ciliary basal body-plasma membrane docking	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ciliary basal body-plasma membrane docking	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ciliary transition zone assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ciliary transition zone assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment or maintenance of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye photoreceptor cell development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hindbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in otic vesicle formation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within photoreceptor cell maintenance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in pronephros development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of establishment of protein localization	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	ISS Inferred from Sequence or Structural Similarity more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor distal connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor proximal connecting cilium	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in rod photoreceptor outer segment	IGI Inferred from Genetic Interaction more info	PubMed

General protein information

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Preferred Names: centrosomal protein of 290 kDa

Names: Bardet-Biedl syndrome 14 protein homolog; nephrocystin-6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001400997.1 → NP_001387926.1 centrosomal protein of 290 kDa isoform 1

Status: VALIDATED

Source sequence(s)

AC153501
NM_146009.4 → NP_666121.2 centrosomal protein of 290 kDa isoform 2

Status: VALIDATED

Source sequence(s)

AC153501

Consensus CDS

CCDS48685.1

UniProtKB/TrEMBL

E9Q9M0

Related

ENSMUSP00000151388.2, ENSMUST00000220346.2

Conserved Domains (4) summary

COG1196
Location:1641 → 2400

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1083 → 1858

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam06273
Location:85 → 133

eIF-4B; Plant specific eukaryotic initiation factor 4B

pfam16574
Location:1290 → 1417

CEP209_CC5; Coiled-coil region of centrosome protein CE290

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

100323410..100409527

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513526.4 → XP_006513589.1 centrosomal protein of 290 kDa isoform X1

Conserved Domains (4) summary

COG1196
Location:1918 → 2677

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

PRK05771
Location:429 → 557

PRK05771; V-type ATP synthase subunit I; Validated

TIGR02168
Location:1360 → 2135

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam16574
Location:1567 → 1694

CEP209_CC5; Coiled-coil region of centrosome protein CE290
XM_006513527.4 → XP_006513590.1 centrosomal protein of 290 kDa isoform X2

Conserved Domains (4) summary

COG1196
Location:1665 → 2424

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1107 → 1882

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:893 → 1280

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16574
Location:1314 → 1441

CEP209_CC5; Coiled-coil region of centrosome protein CE290
XM_006513528.4 → XP_006513591.1 centrosomal protein of 290 kDa isoform X3

See identical proteins and their annotated locations for XP_006513591.1

UniProtKB/Swiss-Prot

Q6A078, Q8BIB8

Related

ENSMUSP00000151712.2, ENSMUST00000219765.2

Conserved Domains (4) summary

COG1196
Location:1634 → 2393

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1076 → 1851

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:862 → 1249

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16574
Location:1283 → 1410

CEP209_CC5; Coiled-coil region of centrosome protein CE290