1. Gene
  2. MAFK - MAF bZIP transcription factor K Gene

MAFK - MAF bZIP transcription factor K Gene

中文名称:MAF bZIP 转录因子 K

种属: Homo sapiens

同用名: P18; NFE2U

基因 ID: 7975 | 基因类型: protein coding

关于 MAFK

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:1,530,702-1,543,043 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues and 6 paralogues. Ubiquitous expression in placenta (RPKM 18.5), prostate (RPKM 14.8) and 25 other tissues.

功能概要

珠蛋白基因的发育调控表达取决于称为基因座控制区 (LCR) 的上游调控元件。 LCR 与由转录因子 NFE2 (核因子 erythroid-2) 介导的强大增强子活性相关。 NFE2 识别位点也存在于 2 种血红素生物合成酶、胆色素原脱氨酶 (PBGD;MIM 609806) 和亚铁螯合酶 (FECH;MIM 612386) 的基因启动子中。 NFE2 DNA 结合活性由含有 18-kD Maf 蛋白 (MafF、MafG (MIM 602020) 或 MafK) 和 p45 (MIM 601490) 的异二聚体组成。两个亚基都是碱性亮氨酸拉链 (bZIP) 蛋白激活蛋白 1 超家族的成员 (参见 MIM 165160) 。 Maf 同型二聚体抑制 NFE2 位点的转录。[OMIM 提供,2008 年 11 月]

The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic Enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]

MAFK 基因产物(1)

mRNA Protein Name
NM_002360.4 NP_002351.1 transcription factor MafK
基因本体论
  • 分子功能
  • 生物过程
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
9150357 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8932385 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
23332764 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
9150357 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

MAFK 蛋白结构

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (24 - 115)

  • 0
  • 100
  • 156 a.a.
蛋白主名 其他名称

transcription factor MafK

basic-leucine zipper transcription factor MafK

MAFK 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
Intra MAFK O60675 BACH2 Homo sapiens Q9BYV9
Y2H Prey Pooling
32296183
Intra MAFK O60675 BACH2 Homo sapiens Q9BYV9
Validated Y2H
32296183
Intra MAFK O60675 BACH2 Homo sapiens Q9BYV9
Y2H Array
32296183
Intra MAFK O60675 NFE2L2 Homo sapiens Q16236
Anti Tag CoIP
33961781
Intra MAFK O60675 NFE2L2 Homo sapiens Q16236
Validated Y2H
32296183
Intra MAFK O60675 NFE2L2 Homo sapiens Q16236
Y2H Prey Pooling
32296183
Intra MAFK O60675 NFE2L2 Homo sapiens Q16236
Y2H Array
32296183
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
Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Autosomal Dominant Adult-Onset Proximal Sma

Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type

Finkel Disease

Smafk

Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant

Autosomal Dominant Adult Proximal Spinal Muscular Atrophy

Finkel Late-Adult Type Sma

Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

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 MAFK VGNC VGNC:31142
Mus musculus MAFK MGD MGI:99951
Canis familiaris MAFK VGNC VGNC:42922
Rattus norvegicus MAFK RGD RGD:628633
Felis catus MAFK VGNC VGNC:107760
Macaca mulatta MAFK VGNC VGNC:81717