Q59H18
uniprot
Q59H18
canonical
amino_acid_sequence
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
uniprot
proteins
disease_involvement
DISEASE: Cardiac conduction disease with or without cardiomyopathy 1 (CCCM1) [MIM:616117]: An autosomal dominant cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. {ECO:0000269|PubMed:24925317, ECO:0000269|PubMed:25791106, ECO:0000269|PubMed:30010057, ECO:0000269|PubMed:37199186, ECO:0000269|PubMed:38424693}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: May play a role in cardiac physiology. {ECO:0000303|PubMed:12721663}.
uniprot
proteins
mass_dalton
92851
uniprot
proteins
mutagenesis
MUTAGEN 490; /note="K->R: Loss of autophosphorylation activity."; /evidence="ECO:0000269|PubMed:12721663, ECO:0000269|PubMed:37199186"; MUTAGEN 512; /note="I->F: Increased autophosphorylation."; /evidence="ECO:0000269|PubMed:37199186"; MUTAGEN 556..590; /note="Missing: Loss of autophosphorylation."; /evidence="ECO:0000269|PubMed:37199186
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated. {ECO:0000269|PubMed:12721663, ECO:0000269|PubMed:38424693}.
uniprot
proteins
protein_family
MAP kinase kinase kinase subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
TKL Ser/Thr protein kinase family
uniprot
proteins
pubmed
12721663
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24925317
uniprot
proteins
pubmed
25791106
uniprot
proteins
pubmed
30010057
uniprot
proteins
pubmed
34440456
uniprot
proteins
pubmed
37199186
uniprot
proteins
pubmed
38424693
uniprot
proteins
sequence_length
835
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12721663}. Cytoplasm {ECO:0000269|PubMed:12721663}. Note=Expressed at lower levels in the cytoplasm.
uniprot
proteins