PRRX1

Protein identityUniProt · HPA

UniProt accession

P54821

Gene

PRRX1

Ensembl

ENSG00000116132

Chromosome

1

Canonical length

245 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

245 residues, UniProt reviewed canonical sequence.

>P54821|PRRX1
     1  MTSSYGHVLE RQPALGGRLD SPGNLDTLQA KKNFSVSHLL DLEEAGDMVA AQADENVGEA
    61  GRSLLESPGL TSGSDTPQQD NDQLNSEEKK KRKQRRNRTT FNSSQLQALE RVFERTHYPD
   121  AFVREDLARR VNLTEARVQV WFQNRRAKFR RNERAMLANK NASLLKSYSG DVTAVEQPIV
   181  PRPAPRPTDY LSWGTASPYS AMATYSATCA NNSPAQGINM ANSIANLRLK AKEYSLQRNQ
   241  VPTVN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRRX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

97 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRRX1.

Disease | AllUniProt

Conditions PRRX1 is implicated in, by any mechanism.

• Agnathia-otocephaly complex (AGOTC) MIM:202650

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 53 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Agnathia-otocephaly complex
• Craniosynostosis syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0.24

gnomAD missense Z

1.02

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• artery morphogenesis
• cartilage development
• embryonic cranial skeleton morphogenesis
• embryonic limb morphogenesis
• inner ear morphogenesis
• mesenchymal cell proliferation
• middle ear morphogenesis
• neuron fate determination
• neuronal stem cell population maintenance
• positive regulation of mesenchymal cell proliferation
• positive regulation of smoothened signaling pathway
• positive regulation of stem cell proliferation
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• roof of mouth development
• smoothened signaling pathway
• stem cell proliferation
• regulation of neuron projection regeneration

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• HMG box domain binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II general transcription initiation factor activity
• RNA polymerase II-specific DNA-binding transcription factor binding

Cellular components

• chromatin
• cytosol
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• OAR domain
• Homedomain-like superfamily
• Homeobox, conserved site
• Paired mesoderm homeobox protein 1/2
• Homeodomain
• OAR motif

KeywordsUniProt

• Acetylation
• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of PRRX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SMAD3