2. Gene
  3. MBTD1 - mbt domain containing 1 Gene

MBTD1 - mbt domain containing 1 Gene

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

中文名称：含 mbt 域 1

种属: Homo sapiens

同用名: SA49P01

基因 ID: 54799 | 基因类型: protein coding

关于 MBTD1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:51,177,425-51,260,958 (from NCBI)

This gene has 7 transcripts (splice variants), 258 orthologues and 18 paralogues. Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues.

功能概要

启用甲基化组蛋白结合活性。预测参与转录的负调控，DNA 模板化。预测作用于胚胎骨骼系统发育的上游或内部。预计活跃于核心。 [由基因组资源联盟提供，2022 年 4 月]

Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

MBTD1 基因产物(1)

mRNA Protein Name
NM_017643.3 NP_060113.2 MBT domain-containing protein 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 NuA4 histone acetyltransferase complex binding IDA
IDA: 通过直接分析推断
32209463 GOA
enables methylated histone binding IDA
IDA: 通过直接分析推断
27153538 GOA
enables methylated histone binding IMP
IMP: 通过突变表型推断
19841675 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27153538 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
27153538 GOA
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
27153538 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
27153538 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of NuA4 histone acetyltransferase complex IDA
IDA: 通过直接分析推断
27153538 GOA
part of nucleosome IDA
IDA: 通过直接分析推断
27153538 GOA
is active in site of double-strand break IDA
IDA: 通过直接分析推断
27153538 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

MBTD1 蛋白结构

MBT

MBT: mbt repeat (191 - 251)

MBT

MBT: mbt repeat (289 - 351)

MBT

MBT: mbt repeat (388 - 461)

MBT

MBT: mbt repeat (496 - 564)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 628 a.a.
蛋白主名 其他名称

MBT domain-containing protein 1

MBTD1 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
MBTD1 Q05BQ5 H4C16 Homo sapiens P62805
Pull Down
27153538
种属内
MBTD1 Q05BQ5 EPC1 Homo sapiens Q9H2F5
Anti Tag CoIP
27153538
种属内
MBTD1 Q05BQ5 EPC1 Homo sapiens Q9H2F5
Pull Down
27153538
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
Endometrial Stromal Nodule
Endometrial Stromal Tumor

Endometrial Stromal Neoplasm

Endometrial Stromal Tumors
Myxoid Leiomyosarcoma

Leiomyosarcoma, Myxoid
Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma
Ossifying Fibromyxoid Tumor

Ossifying Fibromyxoid Tumour

Ossifying Fibromyxoma
N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia
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-RS08197 MBTD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MBTD1 VGNC VGNC:31290
Felis catus MBTD1 VGNC VGNC:63407
Mus musculus MBTD1 MGD MGI:2143977
Canis familiaris MBTD1 VGNC VGNC:43063
Rattus norvegicus MBTD1 RGD RGD:1592427
Macaca mulatta MBTD1 VGNC VGNC:74538
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