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

PRRX1 Gene

protein-coding   GIFtS: 56
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)
About This Section

Aliases
Paired Related Homeobox 11 2     PHOX12 5
PMX11 2 3 5     AGOTC2
Paired Mesoderm Homeo Box 11 2     PRX12
Homeobox Protein PHOX12 3     Paired Mesoderm Homeobox 1 Isoform Pmx-1b2
Paired-Related Homeobox Protein 12 3     Paired Mesoderm Homeobox Protein 12
PRX-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


(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 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 pleomorphic liposarcoma, and acute myelomonocytic leukemia. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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 plasmidPRRX1 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for PRRX1 at MOPED 

Post-translational modifications:

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

  • PRRX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRRX1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_008833.1  NP_073207.1  

    ENSEMBL proteins: 
     ENSP00000356734   ENSP00000239461   ENSP00000450762  

    Human Recombinant Protein Products for PRRX1: 
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    Novus Biologicals PRRX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     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 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for PRRX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRRX1

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRRX1 

    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 plasmidPRRX1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRX1


    (Pathways according to EMD Millipore, 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 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 Oct 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:0006355regulation of transcription, DNA-dependent ----
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    (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,
    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, Sirion Biotech, 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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    8/73 QIAGEN miScript miRNA 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:
         
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    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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      QIAGEN 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 

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

    BE502348 BQ574133 CA397870 BF436864 BM718608 AI088224 AI089575 AI659769 
    H89568 AW450135 AI624190 AI433915 W58669 BG939450 AI687448 AI978936 
    AA126743 NM_022716 AA126444 AI247088 BE855643 BE500960 AI191321 CB153183 

    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™, 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)      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 
     5/34 selected tissues (see all 34) fully expand
     
     Fibroblast
             Detroit 551
             Human Gingival Fibroblasts (HGF)   
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Limb Bud Mesenchyme Cells Limb Bud
             Autopod
             limb/hindlimb   
     
     Tooth
             Dental Follicle Cells Dental Pulp
             Dental pulp Stem Cells (DPSC)   
             mouse/organ system/integumental system   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             heart/ventricle   

    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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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PRRX1 gene from 5/12 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 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064671.12   -- 82.05(n)   337089  BC064671.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta repo6
    CG98766
    (see all 4)
    --
    8(a)
    23(a)
    (see all 4)
    possible ortholog
    1 ↔ many
    (see all 4)
    3R(14061916-14065324)
    2R(18977626-18981785)
    worm
    (Caenorhabditis elegans)
    Secernentea alr-16
    Protein ALR-1
    17(a)
    1 → many
    X(11122597-11125615)


    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)
    About This Section
    Paralogs for PRRX1 gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  SHOX22  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    18/23 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



    (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) 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

    10/1458 SNPs in PRRX1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PRRX1
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    (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.)
    About This Section
    OMIM gene information: 167420    OMIM disorders: --

    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

  • 12 diseases for PRRX1:    About MalaCards
    pleomorphic liposarcoma    acute myelomonocytic leukemia    situs inversus    liposarcoma
    holoprosencephaly    cleft lip    vascular disease    oral squamous cell carcinoma
    myelodysplastic syndromes    squamous cell carcinoma    leukemia    hepatitis


    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)
    About This Section

    PubMed articles for PRRX1 gene, integrated from 9 sources (see all 38):
    (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. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (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. (2008)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (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. (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. (2008)
    8. Meta-analysis identifies six new susceptibility loci f or atrial fibrillation. (PubMed id 22544366)1 Ellinor P.T....Kaab S. (2012)
    9. Agnathia-otocephaly complex: a case report and examina tion of the OTX2 and PRRX1 genes. (PubMed id 22198066)1 Herman S....Samanich J. (2012)
    10. Metastatic colonization requires the repression of the epithelial-mesenchymal transition inducer Prrx1. (PubMed id 23201163)1 Ocana O.H....Nieto M.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      Query String
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    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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