2. Gene
  3. SETMAR - SET domain and mariner transposase fusion gene Gene

SETMAR - SET domain and mariner transposase fusion gene Gene

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

中文名称：SET 结构域和水手转座酶融合基因

种属: Homo sapiens

同用名: Mar1; METNASE

基因 ID: 6419 | 基因类型: protein coding

关于 SETMAR

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:4,303,369-4,317,265 (from NCBI)

This gene has 8 transcripts (splice variants), 78 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 4.0), endometrium (RPKM 3.7) and 25 other tissues.

功能概要

该基因编码的融合蛋白包含一个 N 端组蛋白-赖氨酸 N-甲基转移酶结构域和一个 C 端水手转座酶结构域。编码的蛋白质结合 DNA 并在 DNA 修复活动中发挥作用，包括非同源末端连接和双链断裂修复。该蛋白的 SET 结构域部分特异性甲基化组蛋白 H3 赖氨酸 4 和 36。该基因仅作为融合基因存在于类人灵长类动物中，其他生物缺乏水手转座酶结构域。交替剪接导致多个转录本变体。[RefSeq 提供，2013 年 1 月]

This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, Other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

SETMAR 基因产物(6)

mRNA Protein Name
NM_001243723.2 NP_001230652.1 histone-lysine N-methyltransferase SETMAR isoform 2
NM_001276325.2 NP_001263254.1 histone-lysine N-methyltransferase SETMAR isoform 3
NM_001320676.2 NP_001307605.1 histone-lysine N-methyltransferase SETMAR isoform 5
NM_001320677.2 NP_001307606.1 histone-lysine N-methyltransferase SETMAR isoform 6
NM_001320678.2 NP_001307607.1 histone-lysine N-methyltransferase SETMAR isoform 7
NM_006515.4 NP_006506.3 histone-lysine N-methyltransferase SETMAR 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 DNA binding IDA
IDA: 通过直接分析推断
20521842 GOA
enables DNA topoisomerase binding IPI
IPI: 通过物理相互作用推断
18790802 GOA
enables double-stranded DNA binding IMP
IMP: 通过突变表型推断
24573677 GOA
enables endonuclease activity IDA
IDA: 通过直接分析推断
20620605 GOA
enables endonuclease activity IMP
IMP: 通过突变表型推断
22231448 GOA
enables histone H3K36 dimethyltransferase activity IDA
IDA: 通过直接分析推断
16332963 GOA
enables histone H3K36 methyltransferase activity IMP
IMP: 通过突变表型推断
21187428 GOA
enables histone H3K4 methyltransferase activity IDA
IDA: 通过直接分析推断
16332963 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19390626 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
20521842 GOA
enables single-stranded DNA binding IMP
IMP: 通过突变表型推断
24573677 GOA
enables single-stranded DNA endodeoxyribonuclease activity IDA
IDA: 通过直接分析推断
21491884 GOA
enables single-stranded DNA endodeoxyribonuclease activity IMP
IMP: 通过突变表型推断
24573677 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA catabolic process IDA
IDA: 通过直接分析推断
20521842 GOA
involved in DNA catabolic process IMP
IMP: 通过突变表型推断
24573677 GOA
involved in DNA double-strand break processing IDA
IDA: 通过直接分析推断
21491884 GOA
involved in DNA integration IMP
IMP: 通过突变表型推断
16332963 GOA
involved in cell population proliferation IMP
IMP: 通过突变表型推断
20457750 GOA
involved in double-strand break repair via nonhomologous end joining IDA
IDA: 通过直接分析推断
16332963 GOA
involved in double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
18263876 GOA
involved in mitotic DNA integrity checkpoint signaling IMP
IMP: 通过突变表型推断
18790802 GOA
involved in negative regulation of chromosome organization IDA
IDA: 通过直接分析推断
20620605 GOA
involved in nucleic acid metabolic process IMP
IMP: 通过突变表型推断
22231448 GOA
involved in positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity IDA
IDA: 通过直接分析推断
18790802 GOA
involved in positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity IMP
IMP: 通过突变表型推断
20457750 GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining IDA
IDA: 通过直接分析推断
20620605 GOA
involved in replication fork processing IMP
IMP: 通过突变表型推断
20457750 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with condensed chromosome IDA
IDA: 通过直接分析推断
18790802 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22231448 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
18263876 GOA
located in site of double-strand break IMP
IMP: 通过突变表型推断
22231448 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

SETMAR 蛋白结构

Pre-SET

Pre-SET: Pre-SET motif (48 - 131)

SET

SET: SET domain (150 - 262)

HTH_Tnp_Tc3_2

HTH_Tnp_Tc3_2: Transposase (415 - 476)

Transposase_1

Transposase_1: Transposase (partial DDE domain) (501 - 581)

  • 0
  • 200
  • 400
  • 600
  • 684 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase SETMAR

SET domain and mariner transposase fusion gene-containing protein

SETMAR 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SETMAR Q53H47 YJU2 Homo sapiens Q9BW85
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Sotos Syndrome 3

Sotos3

Sotos Syndrome, Type 3
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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-RS12750 SETMAR Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SETMAR VGNC VGNC:84083
Rattus norvegicus SETMAR RGD RGD:1565882
Mus musculus SETMAR MGD MGI:1921979
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z