OFD1 - Oral-facial-digital syndrome 1 protein - human protein (Function)
 
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Protein
Gene
References

 
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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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).  
  • CuratedUniProtKB
GO molecular function 
Alpha-tubulin bindingdefinition[GO:0043014]  
  • ISSOrtholog Curator
Gamma-tubulin bindingdefinition[GO:0043015]  
  • ISSOrtholog Curator
Protein bindingdefinition[GO:0005515]  
4
  • IPIUniProtKB
  • IPIIntAct
GO biological process 
Not  Centriole replicationdefinition[GO:0007099]  
  • ISSOrtholog Curator
Cilium morphogenesisdefinition[GO:0060271]  
  • ISSOrtholog Curator
Epithelial cilium movement involved in determination of left/right asymmetrydefinition[GO:0060287]  
  • ISSOrtholog Curator
Not  Mitosisdefinition[GO:0007067]  
  • ISSOrtholog Curator
Not  Spindle assembly involved in mitosisdefinition[GO:0090307]  
  • ISSOrtholog Curator
Pathways 
According to Reactome, this protein belongs to the following pathway:
Cell Cycle  REACT_115566  
 

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