CAMKMT
entrez
79823
canonical
uniprot
Q7Z624
canonical
ensembl
ENSG00000143919
resolver
ensp
ENSP00000367755
resolver
genesymbol
CAMKMT
resolver
genesymbol_syn
C2orf34
resolver
genesymbol_syn
CLNMT
resolver
hgnc
HGNC:26276
resolver
uniprot
Q4ZG15
resolver
uniprot
Q53SS6
resolver
uniprot
Q8N6P5
resolver
uniprot
Q9H5G8
resolver
uniprot_entry
CMKMT_HUMAN
resolver
uniprot_sec
Q4ZG15
resolver
uniprot_sec
Q53SS6
resolver
uniprot_sec
Q8N6P5
resolver
uniprot_sec
Q9H5G8
resolver
amino_acid_sequence
MESRVADAGTGETARAAGGSPAVGCTTRGPVVSAPLGAARWKLLRQVLKQKHLDDCLRHVSVRRFESFNLFSVTEGKERETEEEVGAWVQYTSIFCPEYSISLRHNSGSLNVEDVLTSFDNTGNVCIWPSEEVLAYYCLKHNNIFRALAVCELGGGMTCLAGLMVAISADVKEVLLTDGNEKAIRNVQDIITRNQKAGVFKTQKISSCVLRWDNETDVSQLEGHFDIVMCADCLFLDQYRASLVDAIKRLLQPRGKAMVFAPRRGNTLNQFCNLAEKAGFCIQRHENYDEHISNFHSKLKKENPDIYEENLHYPLLLILTKHG
uniprot
proteins
disease_involvement
DISEASE: Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. {ECO:0000269|PubMed:21686663}. Note=The gene represented in this entry is involved in disease pathogenesis. A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, PREPL, and SLC3A1, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate intellectual disability and respiratory chain complex IV deficiency. {ECO:0000269|PubMed:21686663}.
uniprot
proteins
ec_number
2.1.1.60
uniprot
proteins
function
FUNCTION: Catalyzes the trimethylation of 'Lys-116' in calmodulin. {ECO:0000269|PubMed:20975703}.
uniprot
proteins
mass_dalton
36128
uniprot
proteins
protein_family
CLNMT methyltransferase family
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15913950
uniprot
proteins
pubmed
20975703
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21686663
uniprot
proteins
pubmed
23285036
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:23285036}. Nucleus {ECO:0000269|PubMed:23285036}.; SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus {ECO:0000269|PubMed:23285036}.
uniprot
proteins