Entity Details

Primary name CMKMT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z624
EntryNameCMKMT_HUMAN
FullNameCalmodulin-lysine N-methyltransferase
TaxID9606
Evidenceevidence at protein level
Length323
SequenceStatuscomplete
DateCreated2007-09-11
DateModified2021-06-02

Ontological Relatives

GenesCAMKMT

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006479 protein methylation
GO:0007005 mitochondrion organization
GO:0018025 calmodulin-lysine N-methyltransferase activity
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0031072 heat shock protein binding
GO:0032991 protein-containing complex

Subcellular Location

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Subcellular Location
Cytoplasm
Golgi apparatus
Nucleus

Domains

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DomainNameCategoryType
IPR019410 Lysine methyltransferaseFamilyFamily
IPR025800 Calmodulin-lysine N-methyltransferaseFamilyFamily
IPR029063 S-adenosyl-L-methionine-dependent methyltransferaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
606407 OMIMHypotonia-cystinuria syndrome (HCS)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. 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 mental retardation and respiratory chain complex IV deficiency.