A. Molecular pathology

• ADARs
  26 January 2017

  ADAR1 ADAR2 WKP
  Definition: Double-stranded RNA-specific adenosine deaminase is an enzyme that in humans is encoded by the ADAR gene (which stands for adenosine deaminase acting on RNA). See ADAR1 ADAR2
  Adenosine deaminases acting on RNA (ADAR) are enzymes responsible for binding to double stranded RNA (dsRNA) and converting adenosine (A) to inosine (I) by deamination.
  ADAR protein is a RNA-binding protein, which functions in RNA-editing through post-transcriptional modification of (...)

• SENSs
  26 January 2017

  Members : SESN1 , SESN2
  The Sestrins constitute a family of evolutionarily-conserved stress-inducible proteins that suppress oxidative stress and regulate adenosine monophosphate-dependent protein kinase (AMPK)- mammalian target of rapamycin (mTOR) signaling.
  By virtue of these activities, the Sestrins (SESNs) serve as important regulators of metabolic homeostasis. Accordingly, inactivation of Sestrin genes in invertebrates resulted in diverse metabolic pathologies, including oxidative (...)

• PAKs
  26 January 2017

  Definition: PAKs is a family of serine/threonine kinases which are divided into group II (PAK1 , PAK2 and PAK3 ) and group II (PAK4 , PAK6 and PAK5/7 ).
  PAK4 localizes in sub-cellular domains of the cytoplasm and nucleus.
  Function
  PAK4 regulates cytoskeleton remodeling, phenotypic signaling and gene expression, and affects directional motility, invasion, metastasis, and growth.
  Pathology
  Similar to PAK1, PAK4-signaling dependent cellular functions also regulate both physiologic and (...)

• PAK4
  26 January 2017

  WKP
  Definition: Serine/threonine-protein kinase PAK 4 is an enzyme that in humans is encoded by the PAK4 gene.
  PAK4 is one of six members of the PAKs family of serine/threonine kinases which are divided into group II (PAK1, PAK2 and PAK3) and group II (PAK4, PAK6 and PAK5/7).
  PAK4 localizes in sub-cellular domains of the cytoplasm and nucleus.
  Function
  PAK4 regulates cytoskeleton remodeling, phenotypic signaling and gene expression, and affects directional motility, invasion, (...)

• protein structure
  23 January 2017

  protein structures WKP
  Definition: Protein structure is the three-dimensional arrangement of atoms in a protein molecule.
  Examples
  protein structures
  See also
  structure
  biological structures
  biological components
  biological functions
  structure-function relationship

• DKKs
  23 January 2017

  WKP
  Definition: There are at least 2 families of secreted inhibitors of WNT signaling:
  the secreted frizzled-related protein family (as SFRP1 ; MIM.604156 ), all of which have an N-terminal cysteine-rich domain and are transmembrane receptors;
  and the Dickkopf (German for ’big head,’ or ’stubborn’) family (as DKK1 ; MIM.605189).
  Members
  DKK1 , DKK2 , DKK3
  DKK1 Dickkopf-related protein 1 is a protein that in humans is encoded by the DKK1 gene. This gene encodes a protein that is a (...)

• DKK1
  23 January 2017

  WKP
  Definition: Dickkopf-related protein 1 is a protein that in humans is encoded by the DKK1 gene. This gene encodes a protein that is a member of the dickkopf DKKs family.
  It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the Wnt signaling pathway.
  There are at least 2 families of secreted inhibitors of WNT signaling:
  the secreted frizzled-related protein family (as SFRP1 ; MIM.604156 ), all of which have an (...)

• MMP9
  23 January 2017

  |WKP
  Definition: Matrix metallopeptidase 9 (MMP-9), also known as 92 kDa type IV collagenase, 92 kDa gelatinase or gelatinase B (GELB), is a matrixin, a class of enzymes that belong to the zinc-metalloproteinases family involved in the degradation of the extracellular matrix.
  In humans, the MMP9 gene encodes for a signal peptide, a propeptide, a catalytic domain with inserted three repeats of fibronectin type II domain followed by a C-terminal hemopexin-like domain.
  Pathology
  MMP9 (...)

• TP53RK
  18 January 2017

  p53-related protein kinase (TP53RK, also known as PRPK) WKP
  Definition: TP53-regulating kinase, also known as PRPK is an enzyme that in humans is encoded by the TP53RK gene. This protein is a serine/threonine protein kinase that phosphorylates p53 at Ser15.
  PRPK is part of the KEOPS/EKC complex, which participates in transcription control, telomere regulation and tRNA modification.
  p53-related protein kinase TP53RK is an upstream kinase which phosphorylates (Ser15) and mediates p53 (...)

• AFF1
  17 January 2017

  WKP
  Pathology
  AFF1-MLL gene fusion in B-cell acute lymphoblastic leukemia / B-cell ALL

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