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

31102

31103

31104

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

A0A0A0MS89

A6NF31

A_23_P254226

A_24_P134653

A_33_P3224595

AAH96344

AC003037

ADU87636

BC096344

CAA75436

CAA76185

CCDS14157

CCDS83454

CH471074

E9KL37

EAW98835

ENSG00000046651

ENSP00000344314

ENSP00000369923

ENST00000340096

ENST00000340096.10

ENST00000380550

ENST00000380550.6

EntrezGene:8481

EntrezGene:OFD1

g4503178_3p_a_at

GE60330

GO:0000086

GO:0000278

GO:0003674

GO:0005515

GO:0005575

GO:0005576

GO:0005622

GO:0005623

GO:0005634

GO:0005737

GO:0005813

GO:0005814

GO:0005815

GO:0005829

GO:0005856

GO:0005929

GO:0006810

GO:0007049

GO:0008092

GO:0008150

GO:0010389

GO:0016020

GO:0022607

GO:0030030

GO:0034451

GO:0036064

GO:0042802

GO:0042995

GO:0043014

GO:0043015

GO:0043226

GO:0048856

GO:0060271

GO:0060287

GO:0097711

GU727634

HGNC:2567

HPA031102

HPA031103

HPA031104

Hs.197068.0.A1_3p_s_at

ILMN_1785266

IPR006594

MIM:300170

MIM:300209

MIM:300424

MIM:300804

MIM:311200

NM_001330209

NM_003611

NP_001317138

NP_003602

OFD1

OFD1-201

OFD1-202

PF16045

PH_hs_0028733

SM00667

TC0X000061.hg

UPI0000130C40

UPI000050ED7A

XM_005274606

XM_011545592

XP_005274663

XP_011543894

Y15164

Y16355

Participant Of

hasComponent

hasMember

ciliary basal body regulators of Hh [cytosol]

Inferred To

Ghost homologue of OFD1 [cytosol] (Danio rerio)

OFD1 [cytosol] (Bos taurus)

OFD1 [cytosol] (Canis familiaris)

OFD1 [cytosol] (Gallus gallus)

OFD1 [cytosol] (Mus musculus)

OFD1 [cytosol] (Rattus norvegicus)

OFD1 [cytosol] (Sus scrofa)

OFD1 [cytosol] (Xenopus tropicalis)

Cross References

RefSeq

NP_001317138.1, NP_003602.1

OpenTargets

ENSG00000046651

GeneCards

O75665

PRO

O75665

Orphanet

16586

Interactors (4)

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