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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRRX1 Gene

protein-coding   GIFtS: 55
GCID: GC01P170632

paired related homeobox 1

(Previous name: paired mesoderm homeo box 1 )
(Previous symbol: PMX1)
 Explore 16 diseases affiliated with
PRRX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRRX1    

Aliases
for PRRX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Paired Related Homeobox 11 2     PRX-12 3
PMX11 2 3 5     AGOTC2
PHOX11 2 5     PRX12
Paired Mesoderm Homeo Box 11 2     Paired Mesoderm Homeobox 1 Isoform Pmx-1b2
Homeobox Protein PHOX12 3     Paired Mesoderm Homeobox Protein 12
Paired-Related Homeobox Protein 12 3     

External Ids:    HGNC: 91421   Entrez Gene: 53962   Ensembl: ENSG000001161327   OMIM: 1674205   UniProtKB: P548213   

Export aliases for PRRX1 gene to outside databases

Previous GC identifers: GC01P167819 GC01P167363 GC01P168898 GC01P141857


Summaries
for PRRX1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PRRX1:
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)

UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821
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 Wiki entry for PRRX1


Genomic Views
for PRRX1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRRX1 gene promoter:
         GR   FOXO3   NF-kappaB   LCR-F1   FOXO3b   HEN1   NF-kappaB2   FOXO3a   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PRRX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRRX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRRX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24.3

PRRX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRRX1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P170632:  view genomic region     (about GC identifiers)

Start:
 170,631,869 bp from pter      End:
 170,708,560 bp from pter
Size:
 76,692 bases      Orientation:
 plus strand

Proteins
for PRRX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821 (See protein sequence)
Recommended Name: Paired mesoderm homeobox protein 1  
Size: 245 amino acids; 27296 Da
Subcellular location: Nucleus
Secondary accessions: B5BUM7 O60807
Alternative splicing: 2 isoforms:  P54821-1   P54821-2   

Explore the universe of human proteins at neXtProt for PRRX1: NX_P54821

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54821

    • PRRX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_008833.1  NP_073207.1  

    ENSEMBL proteins: 
     ENSP00000451943   ENSP00000356734   ENSP00000239461   ENSP00000450762   ENSP00000451225  
     ENSP00000452377  

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    Novus Biologicals PRRX1 Proteins
    Novus Biologicals PRRX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PRRX1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--


    PRRX1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PRRX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRRX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P54821

    ProtoNet protein and cluster: P54821

    1 Blocks protein family: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for PRRX1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821
    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)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: PRRX1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRRX1 (see all 7)
    OriGene shRNA RFP: PRRX1
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity TAS1509260
    GO:0016564transcription repressor activity ----
    GO:0043565sequence-specific DNA binding IEA--


    PRRX1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PRRX1:
     Increased cell number in G1, s 

    Animal Models:
         Mouse knock-out Prrx1tm1Tex for PRRX1
         14 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Prrx1):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     nervous system  respiratory system  skeleton  vision/eye 

    PRRX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PRRX1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRRX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/6 Interacting proteins for PRRX1 (P548213 ENSP000003567344) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2IP783473, ENSP000003225424I2D: score=2 STRING: ENSP00000322542
    MAFGO155253, ENSP000003503694I2D: score=1 STRING: ENSP00000350369
    SRFP118313, ENSP000002653544I2D: score=1 STRING: ENSP00000265354
    MAFFQ9ULX93, ENSP000003453934I2D: score=1 STRING: ENSP00000345393
    SOX10P566933, ENSP000003541304I2D: score=1 STRING: ENSP00000354130
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0002053positive regulation of mesenchymal cell proliferation IEA--
    GO:0007275multicellular organismal development ----
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0042472inner ear morphogenesis IEA--


    PRRX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRRX1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRRX1

    1 HMDB Compound for PRRX1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    Search CenterWatch for drugs/clinical trials and news about PRRX1 

    Transcripts
    for PRRX1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PRRX1 gene (2 alternative transcripts): 
    NM_006902.3  NM_022716.2  

    Unigene Cluster for PRRX1:

    Paired related homeobox 1
    Hs.283416  [show with all ESTs]
    Unigene Representative Sequence: NM_006902
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553786 ENST00000367760 ENST00000239461(uc001ghe.3 uc001ghf.3)
    ENST00000497230 ENST00000476867 ENST00000495280 ENST00000485529 ENST00000496573


    miRNA
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    hsa-miR-26a-2* hsa-miR-520e hsa-miR-106a hsa-miR-550a* hsa-miR-93 hsa-miR-520b hsa-miR-647 hsa-miR-20a
    SwitchGear 3'UTR luciferase reporter plasmid: PRRX1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRRX1 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRRX1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRRX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRRX1

    Additional cDNA sequence: 

    AB451463.1 AK225968.1 BC074993.2 

    7 DOTS entries:

    DT.99981663  DT.420130  DT.100754834  DT.121378814  DT.99998710  DT.40106195  DT.121378809 

    24/144 AceView cDNA sequences (see all 144):

    BF436864 BF221488 AI419518 BE855643 AA758879 BU743049 NM_022716 BU623295 
    AI146299 AI191321 AI687448 BQ009128 CA397870 AW450135 AA126444 AA456193 
    AI978936 AI624190 AI189600 AA126743 BM718608 AW057610 AI370250 BE858855 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PRRX1    About this scheme

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


    ECgene alternative splicing isoforms for PRRX1

    Expression
    for PRRX1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRRX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PRRX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EndotheliumVeinsVascular Smooth Muscle CellsSmooth Muscle
    HeartAortic Arch ArteriesVascular Smooth Muscle CellsMyocardium, Neural Crest, Smooth Muscle
    HeartEndocardiumVascular Smooth Muscle CellsSmooth Muscle
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    BoneMaxillary ProcessBone
    HeartAtrioventricular CanalHeart
    KidneyInterstitial StromaKidney
    Lower Urinary TractUreterLower Urinary Tract
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/15 LifeMap Cells (see all 15) 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

    See PRRX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRRX1

    SOURCE GeneReport for Unigene cluster: Hs.283416
        SABiosciences Custom PCR Arrays for PRRX1
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    In Situ
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    Orthologs
    for PRRX1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PRRX1 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PRRX11 paired related homeobox 1 81.77(n)
    91.43(a)    		   373941  NM_001007821.1  NP_001007822.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC064671.12   -- 82.05(n)   337089  BC064671.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG98766
    OdsH6
    		 Ods-site homeobox
    		 24(a)
    10(a)
    		 1 ↔ many
    possible ortholog
    		 2R(18977626-18981785)
    X(17685083-17708021)
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-46
    		 Homeobox protein unc-4
    		 15(a)
    		 possible ortholog
    		 II(9897701-9900198)


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

    Paralogs
    for PRRX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRRX1 gene
    ALX12  PITX12  PHOX2B2  RAX2  ARX2  VSX12  DRGX2  PITX22  
    PHOX2A2  VSX22  ALX42  ISX2  PITX32  RAX22  ALX32  PRRX22  
    18/26 SIMAP similar genes for PRRX1 using alignment to 5 protein entries:     PRRX1_HUMAN (see all proteins) (see all similar genes):
    OTX2    PHOX2A    PRRX2    PITX2    SHOX2    DRGX
    PITX1    PAX6    PAX-3    DUX4    OTX1    PHOX2B
    PROP1    RAX2    ALX4    DUX2    PAX3    RAX

    PRRX1 for paralogs           About GeneDecksing



    Genomic Variants
    for PRRX1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1330 NCBI SNPs in PRRX1 are shown (see all 1330)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs780761881,2
    		F,--141855319(+) CTTCAA/GGGAAT 2 -- us2k11Minor allele frequency- G:0.05WA 118
    rs754354771,2
    		F,--141855400(+) ACAAAA/GTTGGC 2 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1126042421,2
    		C,--141855714(+) AGAAAA/TTTTTT 2 -- us2k10--------
    rs741231491,2
    		C,F,--141855933(+) TCCCCG/CTGATA 2 -- us2k14Minor allele frequency- C:0.21WA CSA NA 242
    rs1997917091,2
    		C--141856023(+) TCTCTC/TTNNNN 2 -- us2k10--------
    rs562507741,2
    		C,--141856224(+) ACAGCA/GCAAAG 2 -- us2k12Minor allele frequency- G:0.18NA 122
    rs730327851,2
    		C,--141856677(+) GCCTGG/AGAATA 2 -- us2k12Minor allele frequency- A:0.09WA 120
    rs730327871,2
    		C,F,--141856803(+) CCCTTG/ATTATT 2 -- us2k12Minor allele frequency- A:0.12WA NA 238
    rs1133830481,2
    		--141857555(+) GCCAGA/GAAGAC 2 -- int12Minor allele frequency- G:0.06CSA WA 120
    rs766393521,2
    		F,--141857598(+) CTTCAA/GAGGAA 2 -- int11Minor allele frequency- G:0.11WA 118

    HapMap Linkage Disequilibrium report for PRRX1 (170631869 - 170708560 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PRRX1
         1 CNV: 65212
    Human Gene Mutation Database (HGMD): PRRX1

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    Disorders / Diseases
    for PRRX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PRRX1 for disorders           About GeneDecksing

    OMIM gene information: 167420    OMIM disorders: --

    UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821
  • Defects in PRRX1 are the cause of agnathia-otocephaly complex (AGOTC) [MIM:202650]. AGOTC is 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

    16 diseases for PRRX1:    About MalaCards
    cleft lip/palate    situs inversus    cleft lip    pleomorphic liposarcoma
    myelomonocytic leukemia    acute myelomonocytic leukemia    oral squamous cell carcinoma    squamous cell carcinoma
    holoprosencephaly    myelodysplastic syndrome    liposarcoma    vascular disease
    leukemia    carcinoma    hepatitis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: PRRX1 (2 documents)

    Export disorders for PRRX1 gene to outside databases

    Publications
    for PRRX1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRRX1 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with PRRX1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human and Drosophila homeodomain proteins that enhance the DNA- binding activity of serum response factor. (PubMed id 1509260)1, 2, 3 Grueneberg D.A.... Gilman M.Z. (1992)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. (PubMed id 11063257)1, 9 Norris R.A.... Kern M.J. (2000)
    5. Homeobox gene Prx1 is expressed in activated hepatic stellate cells and transactivates collagen alpha1(I) promoter. (PubMed id 18296734)1, 9 Jiang F. and Stefanovic B. (2008)
    6. Meta-analysis identifies six new susceptibility loci f or atrial fibrillation. (PubMed id 22544366)1 Ellinor P.T....Kaab S. (2012)
    7. Agnathia-otocephaly complex: a case report and examina tion of the OTX2 and PRRX1 genes. (PubMed id 22198066)1 Herman S....Samanich J. (2012)
    8. Metastatic colonization requires the repression of the epithelial-mesenchymal transition inducer Prrx1. (PubMed id 23201163)1 Ocana O.H....Nieto M.A. (2012)
    9. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (PubMed id 22566498)1 Turner S.T....Boerwinkle E. (2012)
    10. PRRX1 is mutated in a fetus with agnathia-otocephaly. (PubMed id 21294718)2 Sergi C. and Kamnasaran D. (2011)

    External Searches for PRRX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing PRRX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5396 HGNC: 9142 AceView: PRRX1 Ensembl:ENSG00000116132 euGenes: HUgn5396
    ECgene: PRRX1 H-InvDB: PRRX1

    Other Databases showing PRRX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRRX1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRRX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRRX1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for PRRX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PRRX1 gene:
    Search GeneIP for patents involving PRRX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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