Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PRRX1 Gene

Aliases for PRRX1 Gene

  • Paired Related Homeobox 1 2 3 5
  • Homeobox Protein PHOX1 3 4
  • PRX-1 3 4
  • PMX1 3 4
  • Paired Mesoderm Homeobox 1 Isoform Pmx-1b 3
  • Paired-Related Homeobox Protein 1 4
  • Paired Mesoderm Homeo Box 1 2
  • AGOTC 3
  • PHOX1 3
  • PRX1 3

External Ids for PRRX1 Gene

Previous HGNC Symbols for PRRX1 Gene

  • PMX1

Previous GeneCards Identifiers for PRRX1 Gene

  • GC01P167819
  • GC01P167363
  • GC01P168898
  • GC01P170632
  • GC01P141857

Summaries for PRRX1 Gene

Entrez Gene Summary for PRRX1 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]

GeneCards Summary for PRRX1 Gene

PRRX1 (Paired Related Homeobox 1) is a Protein Coding gene. Diseases associated with PRRX1 include Agnathia-Otocephaly Complex and Pleomorphic Liposarcoma. GO annotations related to this gene include sequence-specific DNA binding and HMG box domain binding. An important paralog of this gene is PRRX2.

UniProtKB/Swiss-Prot for PRRX1 Gene

  • 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).

Gene Wiki entry for PRRX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRRX1 Gene

Genomics for PRRX1 Gene

Regulatory Elements for PRRX1 Gene

Enhancers for PRRX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRRX1 on UCSC Golden Path with GeneCards custom track

Promoters for PRRX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRRX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRRX1 Gene

Chromosome:
1
Start:
170,662,728 bp from pter
End:
170,739,419 bp from pter
Size:
76,692 bases
Orientation:
Plus strand

Genomic View for PRRX1 Gene

Genes around PRRX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRX1 Gene

Proteins for PRRX1 Gene

  • Protein details for PRRX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54821-PRRX1_HUMAN
    Recommended name:
    Paired mesoderm homeobox protein 1
    Protein Accession:
    P54821
    Secondary Accessions:
    • B5BUM7
    • O60807

    Protein attributes for PRRX1 Gene

    Size:
    245 amino acids
    Molecular mass:
    27296 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PRRX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRRX1 Gene

Proteomics data for PRRX1 Gene at MOPED

Post-translational modifications for PRRX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRRX1 Gene

No data available for DME Specific Peptides for PRRX1 Gene

Domains & Families for PRRX1 Gene

Gene Families for PRRX1 Gene

Protein Domains for PRRX1 Gene

Suggested Antigen Peptide Sequences for PRRX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54821

UniProtKB/Swiss-Prot:

PRRX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PRRX1: view

Function for PRRX1 Gene

Molecular function for PRRX1 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for PRRX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071837 HMG box domain binding IEA --
genes like me logo Genes that share ontologies with PRRX1: view
genes like me logo Genes that share phenotypes with PRRX1: view

Human Phenotype Ontology for PRRX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRRX1 Gene

MGI Knock Outs for PRRX1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRRX1 Gene

Localization for PRRX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRRX1 Gene COMPARTMENTS Subcellular localization image for PRRX1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for PRRX1 Gene

Pathways & Interactions for PRRX1 Gene

SuperPathways for PRRX1 Gene

No Data Available

SIGNOR curated interactions for PRRX1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PRRX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0030326 embryonic limb morphogenesis IEA --
GO:0042472 inner ear morphogenesis IEA --
GO:0042474 middle ear morphogenesis IEA --
GO:0045880 positive regulation of smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with PRRX1: view

No data available for Pathways by source for PRRX1 Gene

Drugs & Compounds for PRRX1 Gene

(1) Drugs for PRRX1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved Nutra 110
genes like me logo Genes that share compounds with PRRX1: view

Transcripts for PRRX1 Gene

Unigene Clusters for PRRX1 Gene

Paired related homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRRX1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b
SP1: -
SP2: - -
SP3:

Relevant External Links for PRRX1 Gene

GeneLoc Exon Structure for
PRRX1
ECgene alternative splicing isoforms for
PRRX1

Expression for PRRX1 Gene

mRNA expression in normal human tissues for PRRX1 Gene

mRNA differential expression in normal tissues according to GTEx for PRRX1 Gene

This gene is overexpressed in Artery - Tibial (x4.6).

Protein differential expression in normal tissues from HIPED for PRRX1 Gene

This gene is overexpressed in Gallbladder (15.1), Ovary (14.1), Testis (12.3), Fetal ovary (8.8), Uterus (8.4), and Prostate (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRRX1 Gene



SOURCE GeneReport for Unigene cluster for PRRX1 Gene Hs.283416

genes like me logo Genes that share expression patterns with PRRX1: view

Protein tissue co-expression partners for PRRX1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PRRX1 Gene

Orthologs for PRRX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRRX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRRX1 35
  • 95.78 (n)
  • 98.78 (a)
PRRX1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRRX1 35
  • 95.1 (n)
  • 99.59 (a)
PRRX1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prrx1 35
  • 94.15 (n)
  • 99.59 (a)
Prrx1 16
Prrx1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRRX1 35
  • 100 (n)
  • 100 (a)
PRRX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prrx1 35
  • 93.61 (n)
  • 99.59 (a)
oppossum
(Monodelphis domestica)
Mammalia PRRX1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRX1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRRX1 35
  • 81.77 (n)
  • 91.43 (a)
PRRX1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prrx1 35
  • 79.32 (n)
  • 88.98 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
prrx1b 35
  • 74.76 (n)
  • 84.77 (a)
prrx1a 36
  • 84 (a)
OneToMany
prrx1b 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9876 36
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6675 35
Species with no ortholog for PRRX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRRX1 Gene

ENSEMBL:
Gene Tree for PRRX1 (if available)
TreeFam:
Gene Tree for PRRX1 (if available)

Paralogs for PRRX1 Gene

Paralogs for PRRX1 Gene

(20) SIMAP similar genes for PRRX1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PRRX1: view

Variants for PRRX1 Gene

Sequence variations from dbSNP and Humsavar for PRRX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_066414 Agnathia-otocephaly complex (AGOTC)
rs473133 -- 170,666,938(-) AAGCC(A/T)GTCCC intron-variant
rs531650 -- 170,688,853(+) CAGTA(C/T)TGAAA intron-variant
rs489090 -- 170,692,623(+) GTAAT(A/C)ATCTA intron-variant
rs541618 -- 170,694,334(-) AATAC(A/C/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRRX1 Gene

Variant ID Type Subtype PubMed ID
nsv872543 CNV Gain 21882294
esv27783 CNV Gain 19812545
esv272357 CNV Insertion 20981092
esv269344 CNV Insertion 20981092
esv2719439 CNV Deletion 23290073

Variation tolerance for PRRX1 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRRX1 Gene

Human Gene Mutation Database (HGMD)
PRRX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRX1 Gene

Disorders for PRRX1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRRX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
agnathia-otocephaly complex
  • agnathia-holoprosencephaly-situs inversus syndrome
pleomorphic liposarcoma
  • papillon-lefevre disease
- elite association - COSMIC cancer census association via MalaCards
Search PRRX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRRX1_HUMAN
  • 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:0000269 PubMed:21294718}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRRX1

Genetic Association Database (GAD)
PRRX1
Human Genome Epidemiology (HuGE) Navigator
PRRX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRRX1
genes like me logo Genes that share disorders with PRRX1: view

No data available for Genatlas for PRRX1 Gene

Publications for PRRX1 Gene

  1. Human and Drosophila homeodomain proteins that enhance the DNA- binding activity of serum response factor. (PMID: 1509260) Grueneberg D.A. … Gilman M.Z. (Science 1992) 2 3 4 67
  2. Homeobox gene Prx1 is expressed in activated hepatic stellate cells and transactivates collagen alpha1(I) promoter. (PMID: 18296734) Jiang F. … Stefanovic B. (Exp. Biol. Med. (Maywood) 2008) 3 23
  3. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. (PMID: 11063257) Norris R.A. … Kern M.J. (Mamm. Genome 2000) 3 23
  4. PRRX1 promotes epithelial-mesenchymal transition through the Wnt/I^-catenin pathway in gastric cancer. (PMID: 25428393) Guo J. … Zhang S. (Med. Oncol. 2015) 3
  5. Paired related homeobox 1 is associated with the invasive properties of glioblastoma cells. (PMID: 25522823) Sugiyama M. … Senga T. (Oncol. Rep. 2015) 3

Products for PRRX1 Gene

Sources for PRRX1 Gene

Content