1. Gene
  2. PRRX1 - paired related homeobox 1 Gene

PRRX1 - paired related homeobox 1 Gene

中文名称:配对相关同源框 1

种属: Homo sapiens

同用名: PMX1; PRX1; AGOTC; PHOX1; PRX-1

基因 ID: 5396 | 基因类型: protein coding

关于 PRRX1

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:170,662,768-170,739,421 (from NCBI)

This gene has 8 transcripts (splice variants), 222 orthologues, 50 paralogues and is associated with 62 phenotypes. Broad expression in endometrium (RPKM 34.6), fat (RPKM 27.9) and 17 other tissues.

功能概要

由该基因编码的 DNA 相关蛋白是定位于细胞核的同源框蛋白配对家族的成员。该蛋白质作为转录共激活剂发挥作用,增强血清反应因子的 DNA 结合活性,血清反应因子是生长和分化因子诱导基因所需的蛋白质。该蛋白质调节肌肉肌酸激酶,表明在建立不同的中胚层肌肉类型中发挥作用。选择性剪接会产生两种丰度和表达模式不同的亚型。[RefSeq 提供,2008 年 7 月]

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]

PRRX1 基因产物(2)

mRNA Protein Name
NM_006902.5 NP_008833.1 paired mesoderm homeobox protein 1 isoform pmx-1a
NM_022716.4 NP_073207.1 paired mesoderm homeobox protein 1 isoform pmx-1b
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 activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
9334314 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
1509260 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
9334314 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9334314 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

PRRX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (95 - 151)

OAR

OAR: OAR domain (219 - 236)

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

paired mesoderm homeobox protein 1

homeobox protein PHOX1

PRRX1 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 PRRX1 P54821 CINP Homo sapiens Q9BW66
Validated Y2H
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
Agnathia-Otocephaly Complex

Otocephaly

Holoprosencephaly-Agnathia

Dysgnathia Complex Agnathia-Holoprosencephaly

AGOTC

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Dysgnathia Complex

Agnathia-Holoprosencephaly

Cervical Auricle

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

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
Mus musculus PRRX1 MGD MGI:97712
Rattus norvegicus PRRX1 RGD RGD:628884
Felis catus PRRX1 VGNC VGNC:68929
Canis familiaris PRRX1 VGNC VGNC:45061
Bos taurus PRRX1 VGNC VGNC:33412
Macaca mulatta PRRX1 VGNC VGNC:106475