Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PITX1 Gene

protein-coding   GIFtS: 65
GCID: GC05M134363

Paired-Like Homeodomain 1

(Previous name: paired-like homeodomain transcription factor 1)
(Previous symbol: BFT)
  See PITX1-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

TryGeneCards Plus

Aliases
Paired-Like Homeodomain 11 2     LBNBG2 5
BFT1 2 3 5     POTX2 5
Paired-Like Homeodomain Transcription Factor 11 2 3     Hindlimb Expressed Homeobox Protein Backfoot2
PTX12 3 5     Pituitary Homeo Box 12
Hindlimb-Expressed Homeobox Protein Backfoot2 3     Pituitary Homeobox 12
Homeobox Protein PITX12 3     Pituitary Otx-Related Factor2
CCF2 5     

External Ids:    HGNC: 90041   Entrez Gene: 53072   Ensembl: ENSG000000690117   OMIM: 6021495   UniProtKB: P783373   

Export aliases for PITX1 gene to outside databases

Previous GC identifers: GC05M134015 GC05M134930 GC05M134394 GC05M134439 GC05M134391 GC05M129551


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

TryGeneCards Plus

Entrez Gene summary for PITX1 Gene:
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins.
Members of this family are involved in organ development and left-right asymmetry. This protein acts as a
transcriptional regulator involved in basal and hormone-regulated activity of prolactin. (provided by RefSeq, Jul
2008)

GeneCards Summary for PITX1 Gene:
PITX1 (paired-like homeodomain 1) is a protein-coding gene. Diseases associated with PITX1 include familial clubfoot due to 5q31 microdeletion, and liebenberg syndrome. GO annotations related to this gene include protein binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: PITX1_HUMAN, P78337
Function: May play a role in the development of anterior structures, and in particular, the brain and facies and
in specifying the identity or structure of hindlimb

Gene Wiki entry for PITX1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the PITX1 gene promoter:
         E2F-3a   c-Fos   E2F-5   AP-1   ATF-2   E2F-2   E2F-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPITX1 promoter sequence
   Search Chromatin IP Primers for PITX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PITX1


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

PITX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PITX1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M134363:  view genomic region     (about GC identifiers)

Start:
134,363,424 bp from pter      End:
134,370,503 bp from pter
Size:
7,080 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PITX1_HUMAN, P78337 (See protein sequence)
Recommended Name: Pituitary homeobox 1  
Size: 314 amino acids; 34128 Da
Secondary accessions: A8K3M0 D3DQB0 O14677 O60425 Q9BTI5

Explore the universe of human proteins at neXtProt for PITX1: NX_P78337

Explore proteomics data for PITX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PITX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002644.4  
    ENSEMBL proteins: 
     ENSP00000265340   ENSP00000427542   ENSP00000451199   ENSP00000422908   ENSP00000423624  

    PITX1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PITX1
    GenScript Custom Purified and Recombinant Proteins Services for PITX1
    Novus Biologicals PITX1 Proteins
    Novus Biologicals PITX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PITX1

     
    Search eBioscience for Proteins for PITX1 

     
    antibodies-online proteins for PITX1 (9 products) 

     
    antibodies-online peptides for PITX1

    PITX1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PITX1
    OriGene Custom Antibody Services for PITX1
    Novus Biologicals PITX1 Antibodies
    Search for Antibodies for PITX1 at Abcam
    Cloud-Clone Corp. Antibodies for PITX1
    ThermoFisher Antibodies for PITX1
    antibodies-online antibodies for PITX1 (41 products) 

    PITX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PITX1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PITX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PITX1
    Cloud-Clone Corp. CLIAs for PITX1
    Search eBioscience for ELISAs for PITX1 
    antibodies-online kits for PITX1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    5 InterPro protein domains:
     IPR003654 OAR_dom
     IPR016233 Homeobox_Pitx/unc30
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P78337

    ProtoNet protein and cluster: P78337

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: PITX1_HUMAN, P78337
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with PITX1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PITX1_HUMAN, P78337
    Function: May play a role in the development of anterior structures, and in particular, the brain and facies and
    in specifying the identity or structure of hindlimb

         Genatlas biochemistry entry for PITX1:
    POU domain,class 1,transcription factor 3,mammalian homeo box backfoot,Drosophila bicoid related,mapping in TCOF1
    region and possibly involved in the syndrome,expressed in Rathke pouch at an early stage of pituitary development
    in a subset of adult anterior pituitary cells that express POMC,and in craniofacial development

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000988protein binding transcription factor activity ----
    GO:0001190RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with PITX1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PITX1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pitx1):
     adipose tissue  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  limbs/digits/tail  mortality/aging 
     muscle  nervous system  skeleton 

    Find genes that share phenotypes with PITX1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pitx1tm1Jdr for PITX1

       genOway: Develop your customized and physiologically relevant rodent model for PITX1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  TAATCCCN 

    miRNA
    Products:
        
    miRTarBase miRNAs that target PITX1:
    hsa-mir-92a-3p (MIRT049789), hsa-mir-149-5p (MIRT045636), hsa-mir-320a (MIRT044749), hsa-mir-331-3p (MIRT043542)

    Block miRNA regulation of human, mouse, rat PITX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PITX1 (see all 18):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-218-2* hsa-miR-30d hsa-miR-759 hsa-miR-633 hsa-miR-30a hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidPITX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PITX1
    Predesigned siRNA for gene silencing in human, mouse, rat PITX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PITX1

    Clone
    Products:
         
    OriGene clones in human, mouse for PITX1 (see all 8)
    OriGene ORF clones in mouse, rat for PITX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PITX1 (NM_002653)
    Sino Biological Human cDNA Clone for PITX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PITX1
    ESI BIO PureStem Progenitors for PITX1: 
    PureStem MEL2, NCr-fac Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PITX1_HUMAN, P78337: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005667transcription factor complex IEA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with PITX1           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for PITX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PITX1
        Development Role of Activin A in cell differentiation and proliferation



        Pathway & Disease-focused RT2 Profiler PCR Array including PITX1: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PITX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PITX1 (P783372, 3 ENSP000002653404) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-67242 I2D: score=5 STRING: ENSP00000340176
    RHOXF2Q9BQY42, 3, ENSP000003604414MINT-67608 I2D: score=5 STRING: ENSP00000360441
    EGR1P181463, ENSP000002399384I2D: score=3 STRING: ENSP00000239938
    NR5A1Q132853, ENSP000003626904I2D: score=2 STRING: ENSP00000362690
    POU1F1P280693, ENSP000003429314I2D: score=2 STRING: ENSP00000342931
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9070926
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0009653anatomical structure morphogenesis TAS9070926
    GO:0014707branchiomeric skeletal muscle development IEA--

    Find genes that share ontologies with PITX1           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PITX1

    3 Novoseek inferred chemical compound relationships for PITX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptx1 97.1 77 9514159 (13), 10859489 (7), 8675014 (7), 11048804 (7) (see all 14)
    enterotoxin 62.9 8 10832652 (2), 16701617 (1), 16128024 (1), 15273805 (1) (see all 5)
    gnrh 23.4 5 10082522 (2), 11399488 (2), 17872365 (1)



    Find genes that share compounds with PITX1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PITX1 gene: 
    NM_002653.4  

    Unigene Cluster for PITX1:

    Paired-like homeodomain 1
    Hs.84136  [show with all ESTs]
    Unigene Representative Sequence: NM_002653
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265340(uc010jea.3) ENST00000506438 ENST00000503586 ENST00000504936
    ENST00000507253 ENST00000502676
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PITX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PITX1 (see all 18):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-218-2* hsa-miR-30d hsa-miR-759 hsa-miR-633 hsa-miR-30a hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidPITX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PITX1
    Predesigned siRNA for gene silencing in human, mouse, rat PITX1
    Clone
    Products:
         
    OriGene clones in human, mouse for PITX1 (see all 8)
    OriGene ORF clones in mouse, rat for PITX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PITX1 (NM_002653)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PITX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PITX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITX1
      QuantiTect SYBR Green Assays in human, mouse, rat PITX1
      QuantiFast Probe-based Assays in human, mouse, rat PITX1

    Additional mRNA sequence: 

    AK290635.1 BC003685.1 BC009412.1 U70370.1 

    9 DOTS entries:

    DT.209362  DT.95158034  DT.75116760  DT.95158033  DT.97805157  DT.95342961  DT.100740270  DT.100833476 
    DT.92431026 

    Selected AceView cDNA sequences (see all 162):

    BQ941107 BU633380 BX387202 BQ949996 CA313589 CB250464 CD106550 BC009412 
    BQ774469 BQ012307 CA313914 BU538150 BU726300 BM979671 AU117580 BU728971 
    AA480259 AI968981 BM823827 BU678820 BM969568 BM669565 BE900342 CR601326 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

    PITX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGCCGGGCG
    PITX1 Expression
    About this image


    PITX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
     
     Esophagus (Gastrointestinal Tract)    fully expand to see all 3 entries
             esophagus ; squamous epithelial cells   
             esophageal epithelium   
     
     Epithelial Cells (Uncategorized)    fully expand to see all 3 entries
             esophagus ; squamous epithelial cells   
             esophageal epithelium   
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Bone Marrow
             HyStem+TGFbeta3+GDF5-induced SK11 cells
    PITX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PITX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.84136
        Pathway & Disease-focused RT2 Profiler PCR Array including PITX1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PITX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PITX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITX1
    QuantiTect SYBR Green Assays in human, mouse, rat PITX1
    QuantiFast Probe-based Assays in human, mouse, rat PITX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITX1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for PITX1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pitx11 , 5 paired-like homeodomain transcription factor 11, 5 91.3(n)1
    96.5(a)1
      13 (30.06 cM)5
    187401  NM_011097.21  NP_035227.11 
     558250515 
    chicken
    (Gallus gallus)
    Aves PITX11 paired-like homeodomain 1 80.02(n)
    84.11(a)
      374201  NM_001167686.1  NP_001161158.1 
    lizard
    (Anolis carolinensis)
    Reptilia PITX16
    paired-like homeodomain 1
    64(a)
    1 ↔ 1
    GL343223.1(498574-508364)
    African clawed frog
    (Xenopus laevis)
    Amphibia pitx12 Pitx1 protein 78.8(n)    AF217647.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pitx11 paired-like homeodomain transcription factor 1 76.86(n)
    77.7(a)
      678598  NM_001040346.2  NP_001035436.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptx13 specific RNA polymerase II
    transcription factor
    44(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-306
    Protein UNC-30, isoform b
    29(a)
    1 → many
    IV(13119096-13124387) WBGene00006766


    ENSEMBL Gene Tree for PITX1 (if available)
    TreeFam Gene Tree for PITX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for PITX1 gene
    GSC2  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  PROP12  
    PITX32  DMBX12  GSC22  CRX2  OTX12  MIXL12  
    14 SIMAP similar genes for PITX1 using alignment to 4 protein entries:     PITX1_HUMAN (see all proteins):
    PITX2    OTX2    PITX3    PHOX2B    HOPX    DUX2
    RAX2    HOXB1    MNX1    NKX2-5    HOXA4    PRRX1
    POU6F1    GSC2

    Find genes that share paralogs with PITX1           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PITX1 (see all 109)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0581134
    Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)4--see VAR_0581132 E K mis40--------
    rs339409501,2
    C--134363154(+) AGGGG-/GTTCTC 1 -- ds50010--------
    rs709765611,2
    C--134364157(-) GGGTGGT/-GTGTG 1 -- ut312Minor allele frequency- -:0.00NA CSA 4
    rs3717346931,2
    C--134364158(+) GGGAA-/ACCACAC 1 -- ut310--------
    rs1113194411,2
    C--134364239(+) TTTTGC/TTTTTT 1 -- ut310--------
    rs709765621,2
    C--134364256(-) AAAAAA/-AAAAA 1 -- ut311Minor allele frequency- -:0.00NA 2
    rs716604341,2
    C--134364407(+) GTCCT-/CCGCGC
            
    CCGCG
    1 -- cds10--------
    rs11316141,2
    A--134364415(-) GGGCGC/TGGGCG 1 -- ut310--------
    rs105345281,2
    C--134365709(+) CTTCCTATT/-  
            
    TAATT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs38403501,2
    C--134365711(+) TCCTA-/TTTA  
            
    ATTTC
    1 -- int10--------

    HapMap Linkage Disequilibrium report for PITX1 (134363424 - 134370503 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PITX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv882924CNV Loss21882294
    nsv830495CNV Loss17160897
    nsv462458CNV Loss19166990
    nsv823240CNV Gain20364138
    nsv823239CNV Gain20364138
    nsv823243CNV Gain20364138
    dgv969n67CNV Gain20364138

    Human Gene Mutation Database (HGMD): PITX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PITX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PITX1

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

    TryGeneCards Plus
    OMIM gene information: 602149   
    OMIM disorders: 119800  186550  
    UniProtKB/Swiss-Prot: PITX1_HUMAN, P78337
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)
    [MIM:119800]: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus
    (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue
    abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia,
    bilateral patellar hypoplasia, and preaxial mirror-image polydactyly. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Liebenberg syndrome (LBNBG) [MIM:186550]: An upper limb-malformation syndrome characterized by the
    combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. Note=The
    gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1
    locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of
    PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the
    forelimb via the activation of ectopic enhancers (PubMed:23022097)

  • 12 diseases for PITX1 (see first 20):    
    About MalaCards
    familial clubfoot due to 5q31 microdeletion    liebenberg syndrome    acute diarrhea    pitx1-related congenital clubfoot
    exophthalmos    clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly    isolated acth deficiency    mirror-image polydactyly
    clubfoot    acth deficiency    treacher collins syndrome    diarrhea

    3 diseases from the University of Copenhagen DISEASES database for PITX1:
    Clubfoot     Exophthalmos     Ophthalmoplegia

    Find genes that share disorders with PITX1           About GenesLikeMe

    3 Novoseek inferred disease relationships for PITX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pituitary adenoma 26.5 9 11048804 (4), 10372733 (1)
    adenoma 3.94 6 11048804 (1)
    virus infection 0 1 16166650 (1)

    Genetic Association Database (GAD): PITX1
    Human Genome Epidemiology (HuGE) Navigator: PITX1 (3 documents)

    Export disorders for PITX1 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

    TryGeneCards Plus

    PubMed articles for PITX1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with PITX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. (PubMed id 9337397)1, 2, 3, 9 Crawford M.J.... Drouin J. (Mamm. Genome 1997)
    2. Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft). (PubMed id 9070926)1, 2, 3 Shang J.... Francke U. (Genomics 1997)
    3. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. (PubMed id 23022097)1, 2 Spielmann M....Mundlos S. (Am. J. Hum. Genet. 2012)
    4. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. (PubMed id 22258522)1, 2 Klopocki E.... Kurth I. (Eur. J. Hum. Genet. 2012)
    5. Genetic polymorphism of PITX1 in susceptibility to knee osteoarthritis in a Chinese Han population: a case-control study. (PubMed id 20054692)1, 4 Fan J....Jiang Q. (Rheumatol. Int. 2011)
    6. 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)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    8. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. (PubMed id 18950742)1, 2 Gurnett C.A.... Dobbs M.B. (Am. J. Hum. Genet. 2008)
    9. Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. (PubMed id 18053270)1, 4 Philippi A....Hager J. (BMC Med. Genet. 2007)
    10. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (Nature 2004)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5307 HGNC: 9004 AceView: PITX1 Ensembl:ENSG00000069011 euGenes: HUgn5307
    ECgene: PITX1 H-InvDB: PITX1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PITX1 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for PITX1 gene:
    Search GeneIP for patents involving PITX1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PITX1   OriGene RNAi products in human, mouse, rat for PITX1  
     OriGene qPCR primer pairs and template standards for PITX1   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PITX1  
     OriGene qSTAR qPCR primer pairs in human, mouse for PITX1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PITX1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PITX1   OriGene Custom Protein Services for PITX1  

     
     
     Block miRNA regulation of human, mouse, rat PITX1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PITX1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PITX1 Predesigned siRNA for gene silencing in human, mouse, rat PITX1
     QuantiFast Probe-based Assays in human, mouse, rat PITX1 QuantiTect SYBR Green Assays in human, mouse, rat PITX1
     PCR Arrays including human, mouse, rat PITX1 Search Chromatin IP Primers for PITX1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PITX1  GeneGlobe Interaction Network for PITX1
     Regulatory tfbs in PITX1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for PITX1 GenScript cDNA clones with any tag delivered in your preferred vector for PITX1
     GenScript Custom Assay Services for PITX1 GenScript Custom overexpressing Cell Line Services for PITX1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PITX1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for PITX1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PITX1 antibodies
     PITX1 proteins
     PITX1 lysates
     Search for Antibodies for PITX1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PITX1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PITX1
     Antibodies for PITX1
     ELISAs for PITX1
     CLIAs for PITX1



     PureStem Progenitors for PITX1: PureStem MEL2, NCr-fac Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PITX1
     SwitchGear 3'UTR luciferase reporter plasmids for PITX1
     SwitchGear Promoter luciferase reporter plasmids for PITX1
     ThermoFisher Antibodies for PITX1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX1
     Browse compounds at ApexBio
     Search Addgene for plasmids for PITX1
      Search eBioscience for proteins for PITX1
      Search eBioscience for elisas for PITX1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for PITX1
     antibodies-online antibodies for PITX1 (41 products)
     antibodies-online kits for PITX1 (8 products)
     antibodies-online peptides for PITX1
     antibodies-online proteins for PITX1 (9 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PITX1 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4