InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRRX1

Summary

InnateDB Protein

IDBP-104756.7

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

ENSP00000239461

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
GO:0071837	HMG box domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0030326	embryonic limb morphogenesis
GO:0042472	inner ear morphogenesis
GO:0042474	middle ear morphogenesis
GO:0045880	positive regulation of smoothened signaling pathway
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0048704	embryonic skeletal system morphogenesis
GO:0048844	artery morphogenesis
GO:0051216	cartilage development
GO:0060021	palate development