Cep290 centrosomal protein 290 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Cep290provided by RGD
Official Full Name: centrosomal protein 290provided by RGD
Primary source: RGD:1311640
See related: EnsemblRapid:ENSRNOG00000056458 AllianceGenome:RGD:1311640
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1311640
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; positive regulation of DNA-templated transcription; and positive regulation of intracellular protein transport. Predicted to act upstream of or within several processes, including determination of left/right symmetry; photoreceptor cell maintenance; and retina development in camera-type eye. Located in ciliary basal body. 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, Dec 2024]
Expression: Biased expression in Testes (RPKM 103.0), Brain (RPKM 53.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 7q21

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	7	NC_086025.1 (37196765..37285955)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	7	NC_051342.1 (35310071..35399388)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	7	NC_005106.4 (40217269..40306327)

Chromosome 7 - NC_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

AU028886 (e-PCR)
- UniSTS:116008

RH132679 (e-PCR)
- UniSTS:215962

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
NOT enables microtubule minus-end binding	ISO Inferred from Sequence Orthology more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
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	ISO Inferred from Sequence Orthology more info
involved_in ciliary transition zone assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ciliary transition zone assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment or maintenance of cell polarity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
involved_in kidney development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within kidney development	ISO Inferred from Sequence Orthology more info
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular protein transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of establishment of protein localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina development in camera-type eye	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MKS complex	ISO Inferred from Sequence Orthology more info
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor distal connecting cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor proximal connecting cilium	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
is_active_in rod photoreceptor outer segment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: centrosomal protein of 290 kDa

Names: centrosomal protein 290kDa

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_001135755.2 → NP_001129227.1 centrosomal protein of 290 kDa isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000007

UniProtKB/TrEMBL

A0A0G2K715, A0A8I5ZYJ8

Related

ENSRNOP00000074021.1, ENSRNOT00000082090.3

Conserved Domains (3) summary

COG1196
Location:1641 → 2359

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

pfam16574
Location:1290 → 1417

CEP209_CC5; Coiled-coil region of centrosome protein CE290
NM_001401003.1 → NP_001387932.1 centrosomal protein of 290 kDa isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000007

UniProtKB/TrEMBL

A0A8I5ZYJ8

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086025.1 Reference GRCr8

Range

37196765..37285955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039079085.2 → XP_038935013.1 centrosomal protein of 290 kDa isoform X1

UniProtKB/TrEMBL

A0A8I5ZYJ8

Conserved Domains (4) summary

COG1196
Location:1918 → 2636

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_039079087.2 → XP_038935015.1 centrosomal protein of 290 kDa isoform X4

UniProtKB/TrEMBL

A0A8I5ZYJ8

Conserved Domains (4) summary

COG1196
Location:1918 → 2638

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_039079086.2 → XP_038935014.1 centrosomal protein of 290 kDa isoform X3

UniProtKB/TrEMBL

A0A8I5ZYJ8

Conserved Domains (4) summary

COG1196
Location:1900 → 2638

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_017594843.3 → XP_017450332.1 centrosomal protein of 290 kDa isoform X2

UniProtKB/TrEMBL

A0A0G2K929, A0A8I5ZYJ8

Related

ENSRNOP00000074837.1, ENSRNOT00000085684.3
XM_063263467.1 → XP_063119537.1 centrosomal protein of 290 kDa isoform X5

UniProtKB/TrEMBL

A0A8I5ZYJ8
XM_039079090.2 → XP_038935018.1 centrosomal protein of 290 kDa isoform X8

UniProtKB/TrEMBL

A0A8I5ZYJ8

Related

ENSRNOP00000083059.1, ENSRNOT00000101678.2

Conserved Domains (3) summary

COG1196
Location:1665 → 2383

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

pfam16574
Location:1314 → 1441

CEP209_CC5; Coiled-coil region of centrosome protein CE290
XM_039079091.2 → XP_038935019.1 centrosomal protein of 290 kDa isoform X9

UniProtKB/TrEMBL

A0A8I5ZYJ8

Conserved Domains (3) summary

COG1196
Location:1634 → 2352

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

pfam16574
Location:1283 → 1410

CEP209_CC5; Coiled-coil region of centrosome protein CE290
XM_039079092.2 → XP_038935020.1 centrosomal protein of 290 kDa isoform X10

UniProtKB/TrEMBL

A0A8I5ZYJ8

Conserved Domains (3) summary

COG1196
Location:1634 → 2352

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

pfam16574
Location:1283 → 1410

CEP209_CC5; Coiled-coil region of centrosome protein CE290
XM_063263468.1 → XP_063119538.1 centrosomal protein of 290 kDa isoform X6

UniProtKB/TrEMBL

A0A8I5ZYJ8
XM_039079088.2 → XP_038935016.1 centrosomal protein of 290 kDa isoform X6

UniProtKB/TrEMBL

A0A8I5ZYJ8

Conserved Domains (4) summary

COG1196
Location:1918 → 2636

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_039079089.2 → XP_038935017.1 centrosomal protein of 290 kDa isoform X7

UniProtKB/TrEMBL

A0A8I5ZYJ8

Related

ENSRNOP00000106392.1, ENSRNOT00000132492.1

Conserved Domains (4) summary

COG1196
Location:1918 → 2636

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_039079094.2 → XP_038935022.1 centrosomal protein of 290 kDa isoform X11

Conserved Domains (3) summary

COG1196
Location:700 → 1418

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

TIGR02168
Location:142 → 917

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam16574
Location:349 → 476

CEP209_CC5; Coiled-coil region of centrosome protein CE290