Reactome | OFD1 [cytosol]

OFD1 [cytosol]

Stable Identifier

R-HSA-380318

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Locations in the PathwayBrowser

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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)
        
        OFD1 [cytosol] (Homo sapiens)
      - mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        OFD1 [cytosol] (Homo sapiens)
    - C2CD3 binds the mother centriole (Homo sapiens)
      - mother centriole [cytosol] (Homo sapiens)
        
        OFD1 [cytosol] (Homo sapiens)
      - mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [cytosol] (Homo sapiens)
    - Recruitment of transition zone proteins (Homo sapiens)
      - basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [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)
        
        OFD1 [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:O75665 OFD1

Gene Names

OFD1, CXorf5

Chain

chain:1-1012

Reference Genes

BioGPS Gene:8481 OFD1

COSMIC (genes):OFD1 OFD1

CTD Gene:8481 OFD1

dbSNP Gene:8481 OFD1

ENSEMBL:ENSG00000046651 OFD1

HGNC:2567 OFD1

KEGG Gene (Homo sapiens):8481 OFD1

Monarch:8481 OFD1

NCBI Gene:8481 OFD1

OMIM:300170 OFD1

UCSC:O75665 OFD1

Reference Transcript

Other Identifiers

0002260551

11727456_a_at

11727457_a_at

17101622

203569_s_at

2806974

35764_at

3969456

3969457

3969458

3969462

3969465

3969467

3969472

3969474

3969475

3969479

3969480

3969482

3969485

3969486

3969487

3969488

3969490

3969491

3969492

3969493

3969495

3969500

3969503

3969507

3969510

3969511

3969512

3969513

3969514

69348_g_at

8166104

8481

A_23_P254226

A_24_P134653

A_33_P3224595

GE60330

GO:0000086

GO:0000278

GO:0003674

GO:0005515

GO:0005575

GO:0005576

GO:0005622

GO:0005634

GO:0005737

GO:0005813

GO:0005814

GO:0005815

GO:0005829

GO:0005856

GO:0005929

GO:0006810

GO:0007010

GO:0007049

GO:0008092

GO:0008150

GO:0010389

GO:0016020

GO:0022607

GO:0030030

GO:0034451

GO:0035082

GO:0036064

GO:0042802

GO:0042995

GO:0043014

GO:0043015

GO:0043226

GO:0048856

GO:0060271

GO:0060287

GO:0097711

Hs.197068.0.A1_3p_s_at

ILMN_1785266

PH_hs_0028733

TC0X000061.hg

g4503178_3p_a_at

Participant Of

hasComponent

hasMember

ciliary basal body regulators of Hh [cytosol]

Inferred To

Ofd1 [cytosol] (Mus musculus)

Ofd1 [cytosol] (Rattus norvegicus)

Ghost homologue of OFD1 [cytosol] (Danio rerio)

Ghost homologue of OFD1 [cytosol] (Xenopus tropicalis)

OFD1 [cytosol] (Bos taurus)

OFD1 [cytosol] (Canis familiaris)

OFD1 [cytosol] (Gallus gallus)

OFD1 [cytosol] (Sus scrofa)

Dmel\CG5614 [cytosol] (Drosophila melanogaster)

Cross References

RefSeq

NP_001317138.1, NP_003602.1

OpenTargets

ENSG00000046651

GeneCards

O75665

HPA

ENSG00000046651-OFD1

Ensembl

ENST00000380550, ENSG00000046651, ENSP00000344314, ENST00000340096, ENSP00000369923

PRO

O75665

Orphanet

16586

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q4AC94 C2CD3	1	C2CD3 [cytosol] (R-HSA-5620926)	0.641	3
UniProt:P53350 PLK1	4	p-T210-PLK1 [nucleoplasm] (R-HSA-3002800) PLK1 [nucleoplasm] (R-HSA-156720) p-T210-PLK1 [cytosol] (R-HSA-3000318) PLK1 [cytosol] (R-HSA-164603)	0.632	4
UniProt:Q96GD4 AURKB	3	AURKB [nucleoplasm] (R-HSA-4655360) SUMO2,3-K202-AURKB [cytosol] (R-HSA-4655414) AURKB [cytosol] (R-HSA-174231)	0.527	3
UniProt:Q9Y265 RUVBL1	1	RUVBL1 [nucleoplasm] (R-HSA-418323)	0.508	3
UniProt:Q9GZQ8 MAP1LC3B	3	MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [cytosol] (R-HSA-5205651) MAP1LC3B [autophagosome membrane] (R-HSA-5683641)	0.499	4

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