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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 Mesoderm Homeobox Protein 1 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 Dysgnathia Complex. Gene Ontology (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

Additional gene information for PRRX1 Gene

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

Genomics for PRRX1 Gene

GeneHancer (GH) Regulatory Elements for PRRX1 Gene

Promoters and enhancers for PRRX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J170660 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 666 +3.4 3428 10.3 RB1 GLI4 RAD21 ZNF335 GLIS2 ZNF366 ZNF143 IKZF2 EGR2 SMARCA5 ENSG00000271811 PRRX1 PRRC2C SCYL3 RN7SL333P
GH01J170706 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.2 +47.0 46999 6.6 JUN BATF EP300 FOSL1 JUND POLR2A IKZF1 CREB1 FOS FOSL2 PRRX1 GC01M170739 ENSG00000271811
GH01J170698 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +37.0 37020 3.2 JUND POLR2A JUN FOS EZH2 PRRX1 ENSG00000271811 GC01M170739
GH01J170622 Enhancer 0.5 ENCODE 19.8 -39.6 -39602 1.4 JUND USF1 USF2 NFE2 FOS PRRX1 ENSG00000271811 ENSG00000235303 LOC105371610
GH01J170538 Enhancer 0.8 Ensembl ENCODE 9.7 -124.4 -124398 0.5 SMARCA5 FOXA2 TAF1 RXRA MAX REST FOXA1 SP1 JUND ATF3 PRRX1 GORAB LOC101928650 ENSG00000225545
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRRX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRRX1 gene promoter:
  • LCR-F1
  • GR-alpha
  • GR
  • HEN1
  • FOXO3b
  • FOXO3a
  • FOXO3
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for PRRX1 Gene

Genomic Locations for PRRX1 Gene
chr1:170,662,728-170,739,419
(GRCh38/hg38)
Size:
76,692 bases
Orientation:
Plus strand
chr1:170,631,869-170,708,560
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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 :
  • Belongs to the paired homeobox family.
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).

Phenotypes From GWAS Catalog for PRRX1 Gene

Gene Ontology (GO) - Molecular Function for PRRX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity TAS 1509260
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRRX1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRRX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PRRX1: view

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:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development 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, Investigational Nutra 139
genes like me logo Genes that share compounds with PRRX1: view

Transcripts for PRRX1 Gene

mRNA/cDNA for PRRX1 Gene

Unigene Clusters for PRRX1 Gene

Paired related homeobox 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for PRRX1 Gene



Protein tissue co-expression partners for PRRX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRRX1 Gene:

PRRX1

SOURCE GeneReport for Unigene cluster for PRRX1 Gene:

Hs.283416

Evidence on tissue expression from TISSUES for PRRX1 Gene

  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • lung
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • penis
  • placenta
  • uterus
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PRRX1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PRRX1 34 33
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRRX1 34 33
  • 95.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRRX1 34 33
  • 95.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prrx1 16 34 33
  • 94.15 (n)
rat
(Rattus norvegicus)
Mammalia Prrx1 33
  • 93.61 (n)
oppossum
(Monodelphis domestica)
Mammalia PRRX1 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRX1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRRX1 34 33
  • 81.77 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prrx1 33
  • 79.32 (n)
zebrafish
(Danio rerio)
Actinopterygii prrx1a 34
  • 84 (a)
OneToMany
prrx1b 34 33
  • 74.76 (n)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG9876 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.6675 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6675 33
Species where no ortholog for PRRX1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PRRX1: view image

Paralogs for PRRX1 Gene

Paralogs for PRRX1 Gene

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

  • PRRX1_HUMAN
  • G3V2N3_HUMAN
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 Variation AA Info Type
rs387906667 pathogenic, Dysgnathia complex, Agnathia-otocephaly complex (AGOTC) [MIM:202650] 170,719,822(+) T/C coding_sequence_variant, missense_variant
rs398122375 pathogenic, Dysgnathia complex 170,719,747(+) AAAAAAA/AAAAAA/AAAAAAAAAAA coding_sequence_variant, frameshift
rs1000012573 -- 170,702,912(+) A/G intron_variant
rs1000042454 -- 170,696,994(+) C/T intron_variant
rs1000056025 -- 170,725,516(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2719439 CNV deletion 23290073
esv27783 CNV gain 19812545
esv3305066 CNV mobile element insertion 20981092
esv3354541 CNV insertion 20981092
esv3439414 CNV insertion 20981092
esv3587902 CNV loss 21293372
nsv1126223 CNV deletion 24896259

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)

Additional Variant Information for PRRX1 Gene

Human Gene Mutation Database (HGMD)
PRRX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRRX1

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
agnathia-otocephaly complex
  • agotc
dysgnathia complex
  • agnathia-holoprosencephaly
- 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.

Additional Disease Information for PRRX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DA … Gilman MZ (Science (New York, N.Y.) 1992) 2 3 4 58
  2. 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 JC (PloS one 2010) 3 44 58
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 44 58
  4. Homeobox gene Prx1 is expressed in activated hepatic stellate cells and transactivates collagen alpha1(I) promoter. (PMID: 18296734) Jiang F … Stefanovic B (Experimental biology and medicine (Maywood, N.J.) 2008) 3 22 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for PRRX1 Gene

Sources for PRRX1 Gene

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