OFD1 - Oral-facial-digital syndrome 1 protein - human protein (Function)
 
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OFD1 »  Oral-facial-digital syndrome 1 protein
 
Protein also known as:  Protein 71-7A.
Gene name:  OFD1
Family name: OFD1
Entry whose protein(s) existence is based on evidence at protein level
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1 56 3
GENE REF ISO

Function

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Overview 
Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).  
1
  • UniProtKB
GO molecular function 
Alpha-tubulin bindingdefinition[GO:0043014]  
1
  • Ortholog Curator
Gamma-tubulin bindingdefinition[GO:0043015]  
1
  • Ortholog Curator
Protein bindingdefinition[GO:0005515]  
5
  • UniProtKB
  • IntAct
GO biological process 
Axoneme assemblydefinition[GO:0035082] silver  
1
  • Ortholog Compara
Not  Centriole replicationdefinition[GO:0007099]  
1
  • Ortholog Curator
Cilium morphogenesisdefinition[GO:0060271]  
1
  • Ortholog Curator
Embryonic body morphogenesisdefinition[GO:0010172] silver  
1
  • Ortholog Compara
Epithelial cilium movement involved in determination of left/right asymmetrydefinition[GO:0060287]  
1
  • Ortholog Curator
Not  Mitotic nuclear divisiondefinition[GO:0007067]  
1
  • Ortholog Curator
Negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formationdefinition[GO:2000314] silver  
1
  • Ortholog Compara
Not  Spindle assembly involved in mitosisdefinition[GO:0090307]  
1
  • Ortholog Curator
Pathways 
According to Reactome, this protein belongs to the following pathways:
Hedgehog 'off' state  REACT_267634  
Loss of Nlp from mitotic centrosomes  REACT_15364  
Loss of proteins required for interphase microtubule organization from the centrosome  REACT_15451  
Recruitment of mitotic centrosome proteins and complexes  REACT_15296  
Regulation of PLK1 Activity at G2/M Transition  REACT_160315  
 

Keywords

Biological process 
Cilium biogenesis/degradation  definition   [KW-0970]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: OFD1
GenomeRNAi: 8481
PRO: PR:O75665