PRRX1 - paired related homeobox 1 Gene

Homo sapiens

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

Gene ID: 5396 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
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	Reference	Source
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

OAR

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PRRX1	P54821	CINP	Homo sapiens	Q9BW66	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11243	PRRX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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