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

PITX1 Gene

protein-coding   GIFtS: 65
GCID: GC05M134363

Paired-Like Homeodomain 1

(Previous name: paired-like homeodomain transcription factor 1)
(Previous symbol: BFT)
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Aliases
for PITX1 gene

(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-Like Homeodomain 11 2     POTX2 5
BFT1 2 3 5     LBNBG2
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


Summaries
for PITX1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for 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 acute diarrhea, and pitx1-related congenital clubfoot, and among its related super-pathways are PKA activation in glucagon signalling. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences 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 plasmid: PITX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PITX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PITX1 gene

(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: PITX1_HUMAN, P78337 (See protein sequence)
Recommended Name: Pituitary homeobox 1  
Size: 314 amino acids; 34128 Da
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78337

    • PITX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PITX1 Protein Expression
    REFSEQ proteins: NP_002644.4  
    ENSEMBL proteins: 
     ENSP00000265340   ENSP00000427542   ENSP00000451199   ENSP00000422908   ENSP00000423624  

    Human Recombinant Protein Products for PITX1: 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    PITX1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for PITX1 

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    Cloud-Clone Corp. ELISAs for PITX1 
    Cloud-Clone Corp. CLIAs for PITX1

    Protein Domains /
    Families
    for PITX1 gene

    (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

    5 InterPro protein domains:
     IPR003654 OAR_dom
     IPR016233 Homeobox_Pitx/unc30
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    PITX1 for domains           About GeneDecksing


    Function
    for PITX1 gene

    (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: 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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000988protein binding transcription factor activity IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    PITX1 for ontologies           About GeneDecksing


    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  hearing/vestibular/ear  limbs/digits/tail  mortality/aging 
     muscle  nervous system  skeleton 

    PITX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pitx1tm1Jdr for PITX1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PITX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PITX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PITX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PITX1 

    miRNA
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    8/18 QIAGEN miScript miRNA 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 plasmid: PITX1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PITX1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PITX1

    Clone
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    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)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PITX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PITX1
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                         Customized lentivirus expression plasmids for stable overexpression of PITX1 

    Cell Line
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    LifeMap BioReagents: cell lines associated with 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


    Pathways & Interactions
    for PITX1 gene

    (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

    SuperPaths for PITX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PKA activation in glucagon signalling
    		Development Role of Activin A in cell differentiation and proliferation0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PITX1
        Development Role of Activin A in cell differentiation and proliferation


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




    PITX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PITX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/15 Interacting proteins for PITX1 (P783372, 3 ENSP000002653404) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

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

    PITX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PITX1 gene

    (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

    PITX1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about PITX1

    Transcripts
    for PITX1 gene

    (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 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PITX1
    8/18 QIAGEN miScript miRNA 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 plasmid: PITX1 3' UTR sequence
    Inhib. RNA
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    Primer
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    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 

    24/162 AceView cDNA sequences (see all 162):

    AA480259 BU726300 BU678820 BM969568 CA313914 BQ943703 CR610821 BM669565 
    CR601326 BM823827 BC009412 BU538150 CR603120 BE900342 BQ949996 BM979671 
    CB250464 BM979362 BQ012307 BU633380 BQ774469 AU117580 BU728971 AI968981 

    GeneLoc Exon Structure


    Expression
    for PITX1 gene

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

    PITX1 expression in normal human tissues (normalized intensities)      PITX1 embryonic expression: see
    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 
     5/49 selected tissues (see all 49) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
             esophageal epithelium   
     
     Uterus
             uterus, post-menopause ; glandular cells   
             cervix   
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Mandibular Process
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             Normal Human osteoblasts (NHOST)   
             skeleton/cranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             Normal Human Articular chondrocytes (NHAC)   
             skeleton/cranium   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 6 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             skeleton/cranium   

    See PITX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PITX1

    SOURCE GeneReport for Unigene cluster: Hs.84136
        SABiosciences Expression via Pathway-Focused PCR Array including PITX1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QIAGEN 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
    for PITX1 gene

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

    Orthologs for PITX1 gene from 7/15 species (see all 15)    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 91.51(n)1
    96.82(a)1    		   13 (30.06 cM)5
    187401  NM_011097.21  NP_035227.11 
     558250545 
    chicken
    (Gallus gallus)    		 Aves PITX11 paired-like homeodomain 1 80.46(n)
    84.77(a)    		   374201  NM_001167686.1  NP_001161158.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PITX16
    --
    		 Uncharacterized protein
    		 55(a)
    46(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343223.1(498574-508364)
    GL343858.1(85587-91657)
    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 77.1(n)
    78.42(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
    		 Homeobox protein unc-30
    		 26(a)
    		 1 → many
    		 IV(13119096-13124387)


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

    Paralogs
    for PITX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PITX1 gene
    GSC2  OTX22  UNCX2  VSX12  HESX12  RHOXF22  PITX22  VSX22  
    RHOXF12  PITX32  DMBX12  ESX12  GSC22  OTX12  CRX2  RHOXF2B2  
    15 SIMAP similar genes for PITX1 using alignment to 4 protein entries:     PITX1_HUMAN (see all proteins):
    PITX2    OTX2    PITX3    PHOX2B    HOPX    PRRX1
    DUX2    PAX6    RAX2    HOXB1    MNX1    NKX2-5
    HOXA4    POU6F1    GSC2

    PITX1 for paralogs           About GeneDecksing



    Genomic Variants
    for PITX1 gene

    (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

    10/109 SNPs in PITX1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PITX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PITX1

    Disorders / Diseases
    for PITX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 602149   
    OMIM disorders: 119800  
    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)

    • 20/35 diseases for PITX1 (see all 35):    About MalaCards
    acute diarrhea    pitx1-related congenital clubfoot    brachydactyly elbow wrist dysplasia    clubfoot
    familial clubfoot due to 5q31 microdeletion    isolated acth deficiency    fibromuscular dysplasia    exophthalmos
    acth deficiency    mirror-image polydactyly    talipes equinovarus    treacher collins syndrome
    pituitary hypoplasia    diarrhea    facioscapulohumeral muscular dystrophy    ehlers-danlos syndrome
    ophthalmoplegia    barrett's esophagus    pituitary adenoma    oral squamous cell carcinoma

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

    PITX1 for disorders           About GeneDecksing

    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

    Publications
    for PITX1 gene

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

    PubMed articles for PITX1 gene, integrated from 9 sources (see all 97):
    (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. (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. (1997)
    3. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. (PubMed id 23022097)1, 2 Spielmann M....Mundlos S. (2012)
    4. Deletions in PITX1 cause a spectrum of lower-limb malf ormations including mirror-image polydactyly. (PubMed id 22258522)1, 2 Klopocki E....Kurth I. (2012)
    5. 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)
    6. Genetic polymorphism of PITX1 in susceptibility to kn ee osteoarthritis in a Chinese Han population: a case-control study. (PubMed id 20054692)1, 4 Fan J....Jiang Q. (2010)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    8. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. (PubMed id 18950742)1, 2 Gurnett C.A.... Dobbs M.B. (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. (2007)
    10. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)

    External Searches for PITX1 gene

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

    Genome Databases showing PITX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5307 HGNC: 9004 AceView: PITX1 Ensembl:ENSG00000069011 euGenes: HUgn5307
    ECgene: PITX1 H-InvDB: PITX1

    Other Databases showing PITX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PITX1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PITX1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PITX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PITX1 gene:
    Search GeneIP for patents involving PITX1

    GeneCards and IP:
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    Products
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    About This Section

     
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