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Aliases for PRRX1 Gene

Aliases for PRRX1 Gene

  • Paired Related Homeobox 1 2 3
  • PMX1 3 4 6
  • Homeobox Protein PHOX1 3 4
  • AGOTC 3 6
  • PHOX1 3 6
  • PRX-1 3 4
  • Paired Mesoderm Homeobox 1 Isoform Pmx-1b 3
  • Paired Mesoderm Homeobox Protein 1 3
  • Paired-Related Homeobox Protein 1 4
  • Paired Mesoderm Homeo Box 1 2
  • PRX1 3

External Ids for PRRX1 Gene

Previous HGNC Symbols for PRRX1 Gene

  • PMX1

Previous GeneCards Identifiers for PRRX1 Gene

  • GC01P167819
  • GC01P167363
  • GC01P168898
  • 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 dysgnathia complex. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is PHOX2B.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRRX1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Antibody Products

No data available for DME Specific Peptides for PRRX1 Gene

Domains for PRRX1 Gene

Gene Families for PRRX1 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

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 :
  • P54821
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:0003677 DNA binding --
GO:0003713 transcription coactivator activity TAS 1509260
GO:0043565 sequence-specific DNA binding IEA --
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

Animal Models for PRRX1 Gene

MGI Knock Outs for PRRX1:

Animal Model Products

CRISPR Products

miRNA for PRRX1 Gene

miRTarBase miRNAs that target PRRX1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRRX1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for PRRX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with PRRX1: view

Pathways for PRRX1 Gene

SuperPathways for PRRX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0030326 embryonic limb morphogenesis IEA --
GO:0042472 inner ear morphogenesis IEA --
genes like me logo Genes that share ontologies with PRRX1: view

No data available for Pathways by source for PRRX1 Gene

Compounds for PRRX1 Gene

(1) HMDB Compounds for PRRX1 Gene

Compound Synonyms Cas Number PubMed IDs
Creatine
  • ((amino(imino)methyl)(methyl)amino)acetate
57-00-1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRRX1

Primer Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Tibial (4.6).

Protein differential expression in normal tissues 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 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 expressions with PRRX1: view

Expression partners for PRRX1 Gene

In Situ Assay Products

No data available for 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

Selected 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 MAF
rs473133 -- 170,666,938(-) AAGCC(A/T)GTCCC intron-variant
rs489090 -- 170,692,623(+) GTAAT(A/C)ATCTA intron-variant
rs501005 -- 170,666,228(+) AGCCT(A/G)ACCAA intron-variant
rs502612 -- 170,672,662(+) CCCAA(C/T)TCAAT intron-variant
rs503706 -- 170,665,943(+) TGTCC(C/T)CAAGT 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

Relevant External Links for PRRX1 Gene

HapMap Linkage Disequilibrium report
PRRX1
Human Gene Mutation Database (HGMD)
PRRX1

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

Disorders for PRRX1 Gene

(1) OMIM Diseases for PRRX1 Gene (167420)

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

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and 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
  2. 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
  3. 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
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 48

Products for PRRX1 Gene

Sources for PRRX1 Gene

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