InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRRX1

Summary

InnateDB Protein

IDBP-104758.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRRX1

Protein Name

paired related homeobox 1

Synonyms

AGOTC; PHOX1; PMX1; PRX-1; PRX1;

Species

Homo sapiens

Ensembl Protein

ENSP00000356734

InnateDB Gene

IDBG-104754 (PRRX1)

Protein Structure

UniProt Annotation

Function

Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Agnathia-otocephaly complex (AGOTC) [MIM:202650]: A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. {ECO:0000269PubMed:21294718}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0043565	sequence-specific DNA binding