1. Gene
  2. MXD1 - MAX dimerization protein 1 Gene

MXD1 - MAX dimerization protein 1 Gene

中文名称:MAX 二聚化蛋白 1

种属: Homo sapiens

同用名: MAD; MAD1; BHLHC58

基因 ID: 4084 | 基因类型: protein coding

关于 MXD1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,915,109-69,942,945 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and 4 paralogues. Broad expression in bone marrow (RPKM 58.4), esophagus (RPKM 54.2) and 16 other tissues.

功能概要

该基因编码基本螺旋-环-螺旋亮氨酸拉链转录因子的 MYC/MAX/MAD 网络的成员。 MYC/MAX/MAD 转录因子介导细胞增殖、分化和凋亡。编码的蛋白质通过竞争结合伴侣 MAX 和募集含有组蛋白脱乙酰酶的阻遏物复合物来拮抗 MYC 介导的靶基因转录激活。该基因的突变可能在急性白血病中发挥作用,编码的蛋白质是一种潜在的肿瘤抑制因子。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 2 月]

This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and Apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

MXD1 基因产物(3)

mRNA Protein Name
NM_001202513.2 NP_001189442.1 max dimerization protein 1 isoform 2
NM_001202514.2 NP_001189443.1 max dimerization protein 1 isoform 3
NM_002357.4 NP_002348.1 max dimerization protein 1 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 transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
10723141 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
10723141 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17418410 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
10723141 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Mad-Max complex IPI
IPI: 通过物理相互作用推断
12553908 GOA
located in chromatin IDA
IDA: 通过直接分析推断
12837246 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10723141 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

MXD1 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (58 - 109)

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

max dimerization protein 1

MAX-binding protein

MXD1 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
MXD1 Q05195 MAX Homo sapiens P61244
Anti Bait CoIP
17418410
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
Bladder Sarcoma

Sarcoma Of Bladder

Sarcoma Of The Urinary Bladder

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Bos taurus MXD1 VGNC VGNC:31771
Canis familiaris MXD1 VGNC VGNC:43513
Felis catus MXD1 VGNC VGNC:81126
Macaca mulatta MXD1 VGNC VGNC:103836
Mus musculus MXD1 MGD MGI:96908
Rattus norvegicus MXD1 RGD RGD:1564525