Reactome | CEP290 [cytosol]

CEP290 [cytosol]

Stable Identifier

R-HSA-380275

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Cep290

Locations in the PathwayBrowser

Expand all

Organelle biogenesis and maintenance (Homo sapiens)

- Cilium Assembly (Homo sapiens)
  - Anchoring of the basal body to the plasma membrane (Homo sapiens)
    - C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole (Homo sapiens)
      - Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - C2CD3 binds the mother centriole (Homo sapiens)
      - mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body (Homo sapiens)
      - basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
        
        basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - CP110 and CEP97 dissociate from the centriole (Homo sapiens)
      - basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - centrosome:C2CD2:distal appendage proteins:TTBK2:MARK4 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - MARK4 binds ODF2 in the centriole (Homo sapiens)
      - Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - centrosome:C2CD2:distal appendage proteins:TTBK2:MARK4 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - RAB3IP stimulates nucleotide exchange on RAB8A (Homo sapiens)
      - basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
        
        basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - Recruitment of transition zone proteins (Homo sapiens)
      - basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
    - The distal appendage proteins recruit TTBK2 (Homo sapiens)
      - Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)
      - Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        CEP290 [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:O15078 CEP290

Gene Names

CEP290, BBS14, KIAA0373, NPHP6

Chain

chain:1-2479

Reference Genes

BioGPS Gene:80184 CEP290

COSMIC (genes):CEP290 CEP290

CTD Gene:80184 CEP290

dbSNP Gene:80184 CEP290

ENSEMBL:ENSG00000198707 CEP290

ENSEMBL_homo_sapiens_GENE:ENSG00000198707.17 CEP290

HGNC:29021 CEP290

KEGG Gene (Homo sapiens):80184 CEP290

Monarch:80184 CEP290

NCBI Gene:80184 CEP290

OMIM:610142 CEP290

UCSC:O15078 CEP290

Reference Transcript

RefSeq:NM_025114.3 CEP290

Other Identifiers

11725230_a_at

11725231_a_at

11745673_a_at

11760077_x_at

16768205

205250_PM_s_at

205250_s_at

221683_PM_s_at

221683_s_at

3143701

3464624

3464625

3464626

3464628

3464631

3464632

3464633

3464635

3464636

3464637

3464638

3464639

3464642

3464643

3464644

3464645

3464646

3464647

3464648

3464650

3464651

3464652

3464653

3464654

3464656

3464657

3464658

3464659

3464660

3464661

3464663

3464664

3464666

3464668

3464669

3464671

3464674

3464675

3464676

3464677

3464678

3464681

3464684

3464686

3464688

3464689

3464690

3464691

3464692

3464693

3464695

3464696

3464697

3464698

3464704

3464705

3464706

3464707

3464708

3464709

3464710

3464711

3464712

38135_at

7965264

80184

A_23_P36865

A_24_P51067

GE53090

GE83713

GE83973

GO:0001822

GO:0005515

GO:0005576

GO:0005634

GO:0005737

GO:0005813

GO:0005814

GO:0005815

GO:0005829

GO:0005856

GO:0005929

GO:0006351

GO:0006355

GO:0006886

GO:0015031

GO:0016020

GO:0030030

GO:0030154

GO:0030902

GO:0030916

GO:0031410

GO:0032391

GO:0032991

GO:0034451

GO:0035580

GO:0035869

GO:0036038

GO:0036064

GO:0042462

GO:0042802

GO:0042995

GO:0043010

GO:0043226

GO:0044782

GO:0045893

GO:0048793

GO:0048856

GO:0060271

GO:0070201

GO:0090316

GO:0097711

GO:1905349

GO:1905515

HMNXSV003035301

HMNXSV003051062

PH_hs_0032517

TC12001791.hg

g12711597_3p_a_at

g7662079_3p_s_at

Participates

as a component of

Other forms of this molecule

CEP290 [extracellular region]

CEP290 [specific granule lumen]

Inferred To

cep290 [cytosol] (Xenopus tropicalis)

Ghost homologue of CEP290 [cytosol] (Gallus gallus)

CEP290 [cytosol] (Bos taurus)

CEP290 [cytosol] (Canis familiaris)

CEP290 [cytosol] (Sus scrofa)

Cep290 [cytosol] (Mus musculus)

Cep290 [cytosol] (Rattus norvegicus)

Cross References

RefSeq

NP_079390.3

OpenTargets

ENSG00000198707

GeneCards

O15078

HPA

ENSG00000198707-CEP290

Ensembl

ENSP00000448012, ENST00000552810, ENSG00000198707

PRO

O15078

Pharos - Targets

O15078

Orphanet

15433

Interactors (7)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O43303 CCP110	2	CCP110 [cytosol] (R-HSA-380261) PolyUb-CCP110 [cytosol] (R-HSA-6783044)	0.888	18
UniProt:Q8IW35 CEP97	1	CEP97 [cytosol] (R-HSA-5626440)	0.745	10
UniProt:Q9NRD5 PICK1	2	PICK1 [plasma membrane] (R-HSA-416989) PICK1 [endocytic vesicle membrane] (R-HSA-417017)	0.556	3
UniProt:Q96RK4 BBS4	1	BBS4 [cytosol] (R-HSA-5617635)	0.536	2
UniProt:Q9NPJ6 MED4	1	MED4 [nucleoplasm] (R-HSA-350263)	0.528	3
UniProt:P33993 MCM7	1	MCM7 [nucleoplasm] (R-HSA-68555)	0.527	2
UniProt:Q2M1K9 ZNF423	1	ZNF423 [nucleoplasm] (R-HSA-3222318)	0.508	3

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