2. Gene
  3. KMT5C - lysine methyltransferase 5C Gene

KMT5C - lysine methyltransferase 5C Gene

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

中文名称：赖氨酸甲基转移酶 5C

种属: Homo sapiens

同用名: SUV420H2; Suv4-20h2

基因 ID: 84787 | 基因类型: protein coding

关于 KMT5C

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,339,876-55,348,121 (from NCBI)

This gene has 12 transcripts (splice variants), 172 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 1.9), placenta (RPKM 1.5) and 25 other tissues.

功能概要

SUV420H2 和相关酶 SUV420H1 (MIM 610881) 作为组蛋白甲基转移酶发挥作用，特异性三甲基化赖氨酸 20 (K20) 上的核小体组蛋白 H4 (参见 MIM 602822) (Schotta 等人，2004 [PubMed 15145825]) 。[OMIM 提供， 2009 年 12 月]

SUV420H2 and the related Enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]

KMT5C 基因产物(1)

mRNA Protein Name
NM_032701.4 NP_116090.2 histone-lysine N-methyltransferase KMT5C
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-adenosyl-L-methionine binding IDA
IDA: 通过直接分析推断
24049080 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
28114273 GOA
enables histone H4K20 methyltransferase activity IDA
IDA: 通过直接分析推断
24049080 GOA
enables histone H4K20 methyltransferase activity IMP
IMP: 通过突变表型推断
28114273 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19486527 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IMP
IMP: 通过突变表型推断
28114273 GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
28114273 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in heterochromatin IDA
IDA: 通过直接分析推断
19486527 GOA
located in pericentric heterochromatin IDA
IDA: 通过直接分析推断
19486527 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

KMT5C 蛋白结构

SET

SET: SET domain (156 - 218)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 462 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase KMT5C

[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B

重组 KMT5C 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77218 SUV420H2 Protein, Human (His) Q86Y97-1 (G2-L280) ≥95%

关联疾病

疾病名称 别名
Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency
Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I
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-RS07408 KMT5C Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris KMT5C VGNC VGNC:42495
Mus musculus KMT5C MGD MGI:2385262
Bos taurus KMT5C VGNC VGNC:30695
Felis catus KMT5C VGNC VGNC:63164
Rattus norvegicus KMT5C RGD RGD:1305226
Others KMT5C NCBI
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