PRRX1 - paired related homeobox 1 Gene

Also Known as PMX1; PRX1; AGOTC; PHOX1; PRX-1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 5396

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence 参考文献 由来
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
9334314 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
1509260 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
9334314 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9334314 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRRX1 Protein Structure

Homeobox

Homeobox: Homeobox domain (95 - 151)

OAR

OAR: OAR domain (219 - 236)

  • 0
  • 100
  • 200
  • 245 a.a.
Protein Preferred Names Protein Names

paired mesoderm homeobox protein 1

  • homeobox protein PHOX1

PRRX1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
PRRX1 P54821 CINP Homo sapiens Q9BW66 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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

Diseases Alias
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

Orthologs Information

生物種 Symbol 由来 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
Others PRRX1 NCBI