1. Gene
  2. CAMKMT - calmodulin-lysine N-methyltransferase Gene

CAMKMT - calmodulin-lysine N-methyltransferase Gene

中文名称:钙调蛋白赖氨酸 N-甲基转移酶

种属: Homo sapiens

同用名: Cam; KMT; CLNMT; C2orf34; CaM KMT

基因 ID: 79823 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种 I 类蛋白质甲基转移酶,该酶在钙调蛋白中形成三甲基赖氨酸。该蛋白质包含 AdoMet 结合基序,可能在钙依赖性信号传导中发挥作用。[RefSeq 提供,2012 年 9 月]

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 基因产物(1)

mRNA Protein Name
NM_024766.5 NP_079042.1 calmodulin-lysine N-methyltransferase
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables heat shock protein binding IPI
IPI: 通过物理相互作用推断
23349634 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23349634 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23349634 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CAMKMT 蛋白结构

Methyltransf_16

Methyltransf_16: Lysine methyltransferase (125 - 277)

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
蛋白主名 其他名称

calmodulin-lysine N-methyltransferase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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