Entity Details

Primary name PRRX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP54821
EntryNamePRRX1_HUMAN
FullNamePaired mesoderm homeobox protein 1
TaxID9606
Evidenceevidence at protein level
Length245
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesPRRX1

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0030326 embryonic limb morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0045880 positive regulation of smoothened signaling pathway
GO:0048664 neuron fate determination
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048844 artery morphogenesis
GO:0051216 cartilage development
GO:0060021 roof of mouth development
GO:0070570 regulation of neuron projection regeneration
GO:0071837 HMG box domain binding
GO:0097150 neuronal stem cell population maintenance
GO:0100026 positive regulation of DNA repair by transcription from RNA polymerase II promoter

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR003654 OAR domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR043378 Paired mesoderm homeobox protein 1/2FamilyFamily

Diseases

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Disease IDSourceNameDescription
202650 OMIMAgnathia-otocephaly complex (AGOTC)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. The disease is caused by variants affecting the gene represented in this entry.