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PRRX1 Gene

protein-coding   GIFtS: 57
GCID: GC01P170632

Paired Related Homeobox 1

(Previous name: paired mesoderm homeo box 1)
(Previous symbol: PMX1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Paired Related Homeobox 11 2     Paired Mesoderm Homeo Box 11
PMX11 2 3 5     PRX12
Homeobox Protein PHOX12 3     Paired Mesoderm Homeobox 1 Isoform Pmx-1b2
PRX-12 3     Paired Mesoderm Homeobox Protein 12
AGOTC2 5     Paired-Related Homeobox Protein 13
PHOX12 5     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   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 plasmidPRRX1 promoter sequence
   Search Chromatin IP Primers for PRRX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821 (See protein sequence)
Recommended Name: Paired mesoderm homeobox protein 1  
Size: 245 amino acids; 27296 Da
Secondary accessions: B5BUM7 O60807
Alternative splicing: 2 isoforms:  P54821-1   P54821-2   

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

Explore proteomics data for PRRX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PRRX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000356734   ENSP00000239461   ENSP00000450762  

    PRRX1 Human Recombinant Protein Products:

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    Novus Biologicals PRRX1 Proteins
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    Cloud-Clone Corp. Proteins for PRRX1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P54821

    ProtoNet protein and cluster: P54821

    1 Blocks protein domain: 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


    PRRX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 5 molecular function terms:    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:0043565sequence-specific DNA binding IEA--
    GO:0071837HMG box domain binding IEA--
         
    PRRX1 for ontologies           About GeneDecksing


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

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

    PRRX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prrx1tm1Tex for PRRX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRRX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PRRX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRRX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRRX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PRRX1:
    hsa-mir-124-3p (MIRT022167)

    Block miRNA regulation of human, mouse, rat PRRX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRRX1 (see all 73):
    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 plasmidPRRX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PRRX1
    Predesigned siRNA for gene silencing in human, mouse, rat PRRX1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PRRX1 (NM_022716)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRRX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRRX1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for PRRX1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRRX1_HUMAN, P54821: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    PRRX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRRX1
    Interactions:

        GeneGlobe Interaction Network for PRRX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for PRRX1 (P548213 ENSP000003567344) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2IP783473, ENSP000003225424I2D: score=2 STRING: ENSP00000322542
    ALX4Q9H1613, ENSP000003327444I2D: score=1 STRING: ENSP00000332744
    MAFGO155253, ENSP000003503694I2D: score=1 STRING: ENSP00000350369
    SRFP118313, ENSP000002653544I2D: score=1 STRING: ENSP00000265354
    MAFFQ9ULX93, ENSP000003453934I2D: score=1 STRING: ENSP00000345393
    About this table

    Gene Ontology (GO): Selected biological process terms (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:0006355regulation of transcription, DNA-templated ----
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0042472inner ear morphogenesis IEA--

    PRRX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PRRX1 gene (2 alternative transcripts): 
    NM_006902.4  NM_022716.3  

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat PRRX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRRX1 (see all 73):
    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 plasmidPRRX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PRRX1
    Predesigned siRNA for gene silencing in human, mouse, rat PRRX1
    Clone
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    OriGene ORF clones in mouse, rat for PRRX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PRRX1 (NM_022716)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRRX1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRRX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRRX1
      QuantiTect SYBR Green Assays in human, mouse, rat PRRX1
      QuantiFast Probe-based Assays in human, mouse, rat PRRX1

    Additional mRNA sequence: 

    AB451463.1 AK225968.1 BC074993.2 

    7 DOTS entries:

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

    Selected AceView cDNA sequences (see all 144):

    AA126743 BE858855 AI088224 AI307193 AI189600 BG939450 AI086687 AI370250 
    AW057610 AI143618 AI125007 NM_006902 BE500960 BM718608 BF378819 AA968965 
    AA330467 AI089575 AI659769 AA600231 H89568 AI161307 BQ574133 AI433915 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRRX1 expression in normal human tissues (normalized intensities)      PRRX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PRRX1 Expression
    About this image


    PRRX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 4 entries
             Dental Mesenchymal Cells Branchial Arch 1
             Branchial Arch 1
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Limb Bud Mesenchyme Cells Limb Bud
             Autopod
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Interstitial Stroma
     
     Tooth
             Dental Follicle Cells Dental Papilla
    PRRX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRRX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283416
        Custom PCR Arrays for PRRX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRX1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PRRX1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prrx11 , 5 paired related homeobox 11, 5 94.15(n)1
    99.59(a)1
      1 (70.53 cM)5
    189331  NM_011127.21  NP_035257.11 
     1632451165 
    chicken
    (Gallus gallus)
    Aves PRRX11 paired related homeobox 1 81.77(n)
    91.43(a)
      373941  NM_001007821.1  NP_001007822.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia prrx11 paired related homeobox 1 79.32(n)
    88.98(a)
      100494324  XM_004913782.1  XP_004913839.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064671.12   -- 82.05(n)   337089  BC064671.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG98766
    --
    28(a)
    1 → many
    2R(18977626-18981785)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRRX1 gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  SHOX22  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    Selected SIMAP similar genes for PRRX1 using alignment to 2 protein entries:     PRRX1_HUMAN (see all proteins) (see all similar genes):
    OTX2    PHOX2A    SHOX2    PRRX2    PITX2    DRGX
    PAX-3    OTX1    PHOX2B    PAX6    PROP1    RAX2
    DUX2    ALX4    PAX3    RAX    POU6F1    Pix-1

    PRRX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRRX1 (see all 1458)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664144
    Agnathia-otocephaly complex (AGOTC)4--see VAR_0664142 F S mis40--------
    rs3725251661,2
    C--141885747(+) TCTCT-/CACACAC 2 -- int10--------
    rs5838951,2
    C,F--141885749(+) CTCTCA/TCACAC 2 -- int14Minor allele frequency- T:0.38NA CSA 8
    rs57786771,2
    C--141888851(+) TTTTT-/CCCCCC 2 -- int1 trp32Minor allele frequency- C:0.25NA CSA 4
    rs800959811,2
    --141888851(+) TTTTTC/TCCCCC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs762753151,2
    F--141917702(-) CTATAC/GTACAA 2 -- int12Minor allele frequency- G:0.30NA 10
    rs746338981,2
    C--141917796(+) TATGAA/GCTTTA 2 -- int12Minor allele frequency- G:0.00NA 4
    rs112878361,2
    C,F--170632575(+) GAGAAG/-GGGAA 2 -- us2k1 trp32Minor allele frequency- -:0.50NA 4
    rs1119342381,2
    C--170632575(+) GAGAAA/GGGGAA 2 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs113627621,2
    C,F--170632623(+) AAGCCT/-TTTTT 2 -- us2k1 trp32Minor allele frequency- -:0.50NA 4

    HapMap Linkage Disequilibrium report for PRRX1 (170631869 - 170708560 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PRRX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719439CNV Deletion23290073
    esv269344CNV Insertion20981092
    esv272357CNV Insertion20981092
    esv27783CNV Gain19812545
    nsv872543CNV Gain21882294

    Human Gene Mutation Database (HGMD): PRRX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRRX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRRX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 167420   
    OMIM disorders: 202650  
    UniProtKB/Swiss-Prot: PRRX1_HUMAN, P54821
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for PRRX1:    About MalaCards
    agnathia-otocephaly complex    pleomorphic liposarcoma    acute myelomonocytic leukemia    liposarcoma
    situs inversus    holoprosencephaly    cleft lip    vascular disease
    myelodysplastic syndromes    labyrinthitis    oral squamous cell carcinoma    squamous cell carcinoma
    hiv-1    leukemia    multiple myeloma    hepatitis
    myeloma


    PRRX1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PRRX1
    Human Genome Epidemiology (HuGE) Navigator: PRRX1 (2 documents)

    Export disorders for PRRX1 gene to outside databases

    (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)
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    PubMed articles for PRRX1 gene, integrated from 10 sources (see all 39):
    (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. (Science 1992)
    2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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. (Genome Res. 2004)
    6. 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. (Mamm. Genome 2000)
    7. 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. (Exp. Biol. Med. (Maywood) 2008)
    8. Paired related homoeobox 1, a new EMT inducer, is involved in metastasis and poor prognosis in colorectal cancer. (PubMed id 23807160)1 Takahashi Y....Mimori K. (Br. J. Cancer 2013)
    9. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. (PubMed id 22544366)1 Ellinor P.T....KAoAob S. (Nat. Genet. 2012)
    10. Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. (PubMed id 22198066)1 Herman S....Samanich J. (Gene 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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