Results for cd05597

Domain Name: STKc_DMPK_like

cd05597

Catalytic domain of Myotonic Dystrophy protein kinase-like Protein Serine/Threonine Kinases. Serine/Threonine Kinases (STKs), Myotonic Dystrophy protein kinase (DMPK)-like subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The DMPK-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. The DMPK-like subfamily is composed of DMPK and DMPK-related cell division control protein 42 (Cdc42) binding kinase (MRCK). Three isoforms of MRCK are known, named alpha, beta and gamma. The DMPK gene is implicated in myotonic dystrophy 1 (DM1), an inherited multisystemic disorder with symptoms that include muscle hyperexcitability, progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. The genetic basis for DM1 is the mutational expansion of a CTG repeat in the 3'-UTR of DMPK. DMPK is expressed in skeletal and cardiac muscles, and in central nervous tissues. The functional role of DMPK is not fully understood. It may play a role in the signal transduction and homeostasis of calcium. MRCK is activated via interaction with the small GTPase Cdc42. MRCK/Cdc42 signaling mediates myosin-dependent cell motility. MRCKgamma is expressed in heart and skeletal muscles, unlike MRCKalpha and MRCKbeta, which are expressed ubiquitously.

No pairwise interactions are available for this conserved domain.

Total Mutations Found: 355
Total Disease Mutations Found: 93
This domain occurred 282 times on human genes (646 proteins).

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AMYOTROPHIC LATERAL SCLEROSIS 19

AORTIC ANEURYSM, FAMILIAL THORACIC 7

BREAST CANCER, SUSCEPTIBILITY TO

CARDIOFACIOCUTANEOUS SYNDROME 3

CARDIOFACIOCUTANEOUS SYNDROME 4

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

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

NEPHRONOPHTHISIS 9 (NPHP9)

NEUROPATHY, HEREDITARY SENSORY, TYPE II

OGUCHI DISEASE 2

PEUTZ-JEGHERS SYNDROME

PULMONARY HYPERTENSION, PRIMARY, 1

PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA

PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED

PULMONARY VENOOCCLUSIVE DISEASE

RETINITIS PIGMENTOSA 62

RETINITIS PIGMENTOSA 62 (RP62)

SHORT RIB-POLYDACTYLY SYNDROME 2A (SRPS2A)

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

CDD (NCBI), PDB

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