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  Domain Name: STKc_Sck1_like
Catalytic domain of Suppressor of loss of cAMP-dependent protein kinase-like Protein Serine/Threonine Kinases. Serine/Threonine Kinases (STKs), Fission yeast Suppressor of loss of cAMP-dependent protein kinase (Sck1)-like subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The Sck1-like subfamily is part of a larger superfamily that includes the catalytic domains of other protein STKs, protein tyrosine kinases, RIO kinases, aminoglycoside phosphotransferase, choline kinase, and phosphoinositide 3-kinase. This subfamily is composed of fungal proteins with similarity to the Schizosaccharomyces pombe STK Sck1. Sck1 plays a role in trehalase activation triggered by glucose and a nitrogen source. Trehalase catalyzes the cleavage of the disaccharide trehalose to glucose. Trehalose, as a carbohydrate reserve and stress metabolite, plays an important role in the response of yeast to environmental changes.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 312
Total Disease Mutations Found: 95
This domain occurred 284 times on human genes (637 proteins).



  AMYOTROPHIC LATERAL SCLEROSIS 19
  AORTIC ANEURYSM, FAMILIAL THORACIC 7
  BREAST CANCER, SUSCEPTIBILITY TO
  CARDIOFACIOCUTANEOUS SYNDROME 3
  CARDIOFACIOCUTANEOUS SYNDROME 4
  CATARACT 6, AGE-RELATED CORTICAL
  CATARACT 6, POSTERIOR POLAR
  CEREBRAL INFARCTION, SUSCEPTIBILITY TO
  CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
  COFFIN-LOWRY SYNDROME
  COFFIN-LOWRY SYNDROME, MILD
  COWDEN DISEASE 6
  DIABETES MELLITUS, TYPE II
  ENDOCRINE-CEREBROOSTEODYSPLASIA
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
  FG SYNDROME 4
  GLYCOGEN STORAGE DISEASE IXC
  LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
  MALFORMATIONS
  MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
  MELANOMA, MALIGNANT, SOMATIC
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
  MENTAL RETARDATION, X-LINKED 19
  MENTAL RETARDATION, X-LINKED 30
  MENTAL RETARDATION, X-LINKED, WITH NYSTAGMUS
  NEUROPATHY, HEREDITARY SENSORY, TYPE II
  OGUCHI DISEASE 2
  PEUTZ-JEGHERS SYNDROME
  PSEUDOHYPOALDOSTERONISM, TYPE IIB
  RETINITIS PIGMENTOSA 38
  RETINITIS PIGMENTOSA 62
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
  SPERMATOGENIC FAILURE 5
  SPINOCEREBELLAR ATAXIA 14
  T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC
  TESTICULAR TUMOR, SOMATIC
  THROMBOCYTOPENIA 2
  VARIANT OF UNKNOWN SIGNIFICANCE


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