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  Domain Name: WD40
WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from its N-terminus and the WD dipeptide at its C-terminus and is 40 residues long, hence the name WD40; between GH and WD lies a conserved core; serves as a stable propeller-like platform to which proteins can bind either stably or reversibly; forms a propeller-like structure with several blades where each blade is composed of a four-stranded anti-parallel b-sheet; instances with few detectable copies are hypothesized to form larger structures by dimerization; each WD40 sequence repeat forms the first three strands of one blade and the last strand in the next blade; the last C-terminal WD40 repeat completes the blade structure of the first WD40 repeat to create the closed ring propeller-structure; residues on the top and bottom surface of the propeller are proposed to coordinate interactions with other proteins and/or small ligands; 7 copies of the repeat are present in this alignment.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 161
Total Disease Mutations Found: 35
This domain occurred 208 times on human genes (346 proteins).



  ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
  ACHALASIA-ALACRIMA SYNDROME
  ASPHYXIATING THORACIC DYSTROPHY 2
  ASPHYXIATING THORACIC DYSTROPHY 2 (ATD2)
  BEAULIEU-BOYCOTT-INNES SYNDROME
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
  CILIARY DYSKINESIA, PRIMARY, 9
  CRANIOECTODERMAL DYSPLASIA 1
  CRANIOECTODERMAL DYSPLASIA 2 (CED2)
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
  HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA
  IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
  JOUBERT SYNDROME 3
  MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE
  MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS
  SHORT RIB-POLYDACTYLY SYNDROME V
  SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS


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Range on the Protein:  

   Protein ID            Protein Position