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  Domain Name: STKc_CRIK
Catalytic domain of the Protein Serine/Threonine Kinase, Citron Rho-interacting kinase. Serine/Threonine Kinases (STKs), Citron Rho-interacting kinase (CRIK) subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The CRIK 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. CRIK is also called citron kinase. It contains a catalytic domain, a central coiled-coil domain, and a C-terminal region containing a Rho-binding domain (RBD), a zinc finger, and a pleckstrin homology (PH) domain, in addition to other motifs. CRIK, an effector of the small GTPase Rho, plays an important function during cytokinesis and affects its contractile process. CRIK-deficient mice show severe ataxia and epilepsy as a result of abnormal cytokinesis and massive apoptosis in neuronal precursors. A Down syndrome critical region protein TTC3 interacts with CRIK and inhibits CRIK-dependent neuronal differentiation and neurite extension.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 425
Total Disease Mutations Found: 157
This domain occurred 337 times on human genes (772 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
  CEREBRAL INFARCTION, SUSCEPTIBILITY TO
  CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
  COFFIN-LOWRY SYNDROME
  COFFIN-LOWRY SYNDROME, MILD
  COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, SOMATIC, INCLUDED
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
  COWDEN DISEASE 6
  DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  DIABETES MELLITUS, TYPE II
  ENDOCRINE-CEREBROOSTEODYSPLASIA
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
  ESOPHAGEAL CANCER, SOMATIC
  FG SYNDROME 4
  GLYCOGEN STORAGE DISEASE IXC
  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
  INSULIN RESISTANCE
  INSULIN RESISTANCE, INCLUDED
  IRAK4 DEFICIENCY
  LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
  LOEYS-DIETZ SYNDROME, TYPE 1A
  LOEYS-DIETZ SYNDROME, TYPE 1B
  LOEYS-DIETZ SYNDROME, TYPE 1B, INCLUDED
  LOEYS-DIETZ SYNDROME, TYPE 2A
  LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED
  LOEYS-DIETZ SYNDROME, TYPE 2B
  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
  MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
  NEPHRONOPHTHISIS 9 (NPHP9)
  NEUROPATHY, HEREDITARY SENSORY, TYPE II
  OGUCHI DISEASE 2
  PEUTZ-JEGHERS SYNDROME
  PROSTATE CANCER, PROGRESSION AND METASTASIS OF
  RETINITIS PIGMENTOSA 62
  RETINITIS PIGMENTOSA 62 (RP62)
  SELECTIVE T-CELL DEFECT
  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
  VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL


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