CAMKMT - calmodulin-lysine N-methyltransferase Gene

Also Known as Cam; KMT; CLNMT; C2orf34; CaM KMT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79823

About CAMKMT

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:44,361,947-44,772,592 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in Calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]

CAMKMT Products (1)

mRNA Protein Name
NM_024766.5 NP_079042.1 calmodulin-lysine N-methyltransferase
Molecular Function GO Annotation Evidence References Source
enables heat shock protein binding IPI
IPI: Inferred from physical interaction
23349634 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
23349634 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
23349634 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAMKMT Protein Structure

Methyltransf_16

Methyltransf_16: Lysine methyltransferase (125 - 277)

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
Protein Preferred Names Protein Names

calmodulin-lysine N-methyltransferase

Related Diseases

Diseases Alias
Hypotonia-Cystinuria Syndrome
  • Cystinuria With Mitochondrial Disease

  • 2p21 Microdeletion Syndrome

  • HCS

  • Homozygous 2p16 Deletion Syndrome, Formerly

  • 2p21 Deletion Syndrome

  • Del(2)(P21)

  • Monosomy 2p21

  • Atypical Hypotonia-Cystinuria Syndrome

  • Atypical Hcs

2p21 Microdeletion Syndrome Without Cystinuria
  • Del(2)(P21) Without Cystinuria

Cystinuria
  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease

Hypotonia
Meier-Gorlin Syndrome 1
  • Meier-Gorlin Syndrome

  • Ear, Patella, Short Stature Syndrome

  • Microtia, Absent Patellae, Micrognathia Syndrome

  • MGORS1

  • Eps

  • Ear-Patella-Short Stature Syndrome

  • Ear Patella Short Stature Syndrome

  • Microtia Absent Patellae Micrognathia Syndrome

  • Meier-Gorlin Syndrome, Type 1

Kabuki Syndrome 1
  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CAMKMT RGD RGD:1310453
Macaca mulatta CAMKMT VGNC VGNC:70637
Bos taurus CAMKMT VGNC VGNC:26727
Felis catus CAMKMT VGNC VGNC:99042
Mus musculus CAMKMT MGD MGI:1920832
Canis familiaris CAMKMT VGNC VGNC:38685
Others CAMKMT NCBI