1. Gene
  2. MAML1 - mastermind like transcriptional coactivator 1 Gene

MAML1 - mastermind like transcriptional coactivator 1 Gene

中文名称:策划者样转录共激活因子 1

种属: Homo sapiens

同用名: Mam1; Mam-1

基因 ID: 9794 | 基因类型: protein coding

关于 MAML1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,732,822-179,777,283 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 197 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 9.7), ovary (RPKM 9.3) and 25 other tissues.

功能概要

这种蛋白质是 mastermind 的人类同系物,mastermind 是一种果蝇蛋白质,在参与细胞命运决定的 Notch 信号通路中发挥作用。有体外证据表明,人类同源物与人类 Notch 受体的细胞内部分形成复合物,可以增加 Notch 诱导基因的表达。这一证据支持其在 Notch 信号通路中作为转录共激活因子的拟议功能。[RefSeq 提供,2008 年 7 月]

This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]

MAML1 基因产物(1)

mRNA Protein Name
NM_014757.5 NP_055572.1 mastermind-like 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 peptide antigen binding IPI
IPI: 通过物理相互作用推断
17317671 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11101851 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
15546612 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
11101851 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Notch signaling pathway IDA
IDA: 通过直接分析推断
11101851 GOA
involved in positive regulation of myotube differentiation IGI
IGI: 通过遗传相互作用推断
16510869 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
11101851 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
16510869 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MAML1-RBP-Jkappa- ICN1 complex IDA
IDA: 通过直接分析推断
16510869 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9874765 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

MAML1 蛋白结构

MamL-1

MamL-1: MamL-1 domain (14 - 73)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1016 a.a.
蛋白主名 其他名称

mastermind-like protein 1

mastermind homolog

MAML1 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
MAML1 Q92585 NOTCH1 Homo sapiens P46531 16530044
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531 19907488
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531 22325781
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531 20972443
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531
GMS
22325781
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531 23022380
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531
Y2H
12370315
种属内
MAML1 Q92585 NOTCH1 Homo sapiens P46531
GMS
20972443
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
Juxtacortical Chondrosarcoma
Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

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
Felis catus MAML1 VGNC VGNC:63371
Bos taurus MAML1 VGNC VGNC:106812
Mus musculus MAML1 MGD MGI:1890504
Rattus norvegicus MAML1 RGD RGD:1308631
Macaca mulatta MAML1 VGNC VGNC:74280
Canis familiaris MAML1 VGNC VGNC:42939