Reactome | OFD1 [cytosol]

OFD1 [cytosol]

Stable Identifier

R-HSA-380318

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

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)
        
        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:hsa:8481 OFD1

Monarch:8481 OFD1

NCBI Gene:8481 OFD1

OMIM:300170 OFD1

UCSC:O75665 OFD1

Reference Transcript

Other Identifiers

11727456_a_at

11727457_a_at

11759896_a_at

11759897_x_at

11762700_at

17101622

17101654

203569_PM_s_at

203569_s_at

240286_PM_at

240286_at

241751_PM_at

241751_at

2806974

35764_at

3969456

3969457

3969458

3969461

3969462

3969463

3969464

3969465

3969467

3969468

3969469

3969470

3969471

3969472

3969473

3969474

3969475

3969479

3969480

3969481

3969482

3969483

3969484

3969485

3969486

3969487

3969488

3969489

3969490

3969491

3969492

3969493

3969495

3969500

3969501

3969502

3969503

3969504

3969505

3969506

3969507

3969508

3969509

3969510

3969511

3969512

3969513

3969514

3969515

3969516

3969518

3969520

3969522

3969524

3969526

3969528

3969529

3969531

69346_at

69348_g_at

81148_at

8166104

8481

A_14_P102908

A_23_P254226

A_24_P134653

A_33_P3224595

GE60330

GO:0005515

GO:0005576

GO:0005634

GO:0005737

GO:0005813

GO:0005814

GO:0005815

GO:0005829

GO:0005856

GO:0005929

GO:0007010

GO:0007018

GO:0008092

GO:0010172

GO:0015630

GO:0016020

GO:0030030

GO:0031514

GO:0034451

GO:0035082

GO:0036064

GO:0042802

GO:0043014

GO:0043015

GO:0043226

GO:0044782

GO:0060090

GO:0060271

GO:0060287

GO:2000314

HMNXSV003002771

HMNXSV003034252

Hs.155654.0.A1_3p_at

Hs.197068.0.A1_3p_at

Hs.197068.0.A1_3p_s_at

ILMN_1785266

PH_hs_0028733

TC0X000061.hg

TC0X000062.hg

g4503178_3p_a_at

Participates

as a component of

as a member of

ciliary basal body regulators of Hh [cytosol] (Homo sapiens)

Inferred To

Ofd1 [cytosol] (Mus musculus)

Ofd1 [cytosol] (Rattus norvegicus)

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_003602.1, NP_001317138.1

ENSEMBL

ENST00000340096, ENST00000380550, ENSP00000507121, ENST00000682237, ENSG00000046651, ENSP00000369923, ENSP00000344314

OpenTargets

ENSG00000046651

GeneCards

OFD1

HPA

ENSG00000046651-OFD1

PRO

O75665

Pharos - Targets

O75665

GlyGen

O75665

Orphanet

OFD1

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9GZQ8 MAP1LC3B	3	MAP1LC3B [cytosol] (R-HSA-5205651) MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [autophagosome membrane] (R-HSA-5683641)	0.664	7
UniProt:Q4AC94 C2CD3	1	C2CD3 [cytosol] (R-HSA-5620926)	0.641	3
UniProt:P53350 PLK1	4	PLK1 [cytosol] (R-HSA-164603) p-T210-PLK1 [nucleoplasm] (R-HSA-3002800) p-T210-PLK1 [cytosol] (R-HSA-3000318) PLK1 [nucleoplasm] (R-HSA-156720)	0.618	4
UniProt:Q9Y265 RUVBL1	1	RUVBL1 [nucleoplasm] (R-HSA-418323)	0.508	3

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