2. Gene
  3. CARNMT1 - carnosine N-methyltransferase 1 Gene

CARNMT1 - carnosine N-methyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌肽 N-甲基转移酶 1

种属: Homo sapiens

同用名: C9orf41; UPF0586

基因 ID: 138199 | 基因类型: protein coding

关于 CARNMT1

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:74,980,790-75,028,430 (from NCBI)

This gene has 3 transcripts (splice variants) and 203 orthologues. Ubiquitous expression in thyroid (RPKM 5.8), testis (RPKM 4.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种甲基转移酶，可将肌肽转化为鹅氨酸，这是一种在骨骼肌中大量存在的二肽。编码的蛋白质也可以甲基化其他二肽。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供，2016 年 2 月]

The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate Other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

CARNMT1 基因产物(2)

mRNA Protein Name
NM_001320497.2 NP_001307426.1 carnosine N-methyltransferase isoform 2
NM_152420.3 NP_689633.1 carnosine N-methyltransferase isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables S-adenosylmethionine-dependent methyltransferase activity IDA
IDA: 通过直接分析推断
29463897 GOA
enables carnosine N-methyltransferase activity IDA
IDA: 通过直接分析推断
26001783 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
29463897 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carnosine metabolic process IDA
IDA: 通过直接分析推断
26001783 GOA
involved in carnosine metabolic process IMP
IMP: 通过突变表型推断
29463897 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
26001783 GOA
located in nucleus IDA
IDA: 通过直接分析推断
26001783 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

CARNMT1 蛋白结构

N2227

N2227: N2227-like protein (146 - 408)

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

carnosine N-methyltransferase

UPF0586 protein C9orf41

关联疾病

疾病名称 别名
Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01931 CARNMT1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CARNMT1 VGNC VGNC:60373
Macaca mulatta CARNMT1 VGNC VGNC:70613
Bos taurus CARNMT1 VGNC VGNC:26771
Rattus norvegicus CARNMT1 RGD RGD:1311863
Canis familiaris CARNMT1 VGNC VGNC:38725
Mus musculus CARNMT1 MGD MGI:1914633
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