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

PITX1 Gene

protein-coding   GIFtS: 61
GCID: GC05M134363

paired-like homeodomain 1

(Previous name: paired-like homeodomain transcription factor 1 )
(Previous symbol: BFT)
 Explore 30 diseases affiliated with
PITX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PITX1    

Aliases
for PITX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Paired-Like Homeodomain 11 2     CCF2 5
BFT1 2 3 5     LBNBG2
PTX11 2 3 5     Hindlimb Expressed Homeobox Protein Backfoot2
Paired-Like Homeodomain Transcription Factor 11 2 3     Pituitary Homeo Box 12
POTX1 2 5     Pituitary Homeobox 12
Hindlimb-Expressed Homeobox Protein Backfoot2 3     Pituitary Otx-Related Factor2
Homeobox Protein PITX12 3     

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:
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)

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


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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:
 134,362,615 bp from pter      End:
 134,370,503 bp from pter
Size:
 7,889 bases      Orientation:
 minus strand

Proteins
for PITX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78337

    • PITX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals PITX1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for PITX1
    ThermoFisher Antibodies for PITX1

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    Uscn ELISAs and CLIAs for PITX1

    Protein Domains /
    Families
    for PITX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PITX1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    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 shRNA RFP: PITX1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PITX1

    Gene Editing
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    Clone
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    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:       
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    Gene Ontology (GO): 3 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:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--


    PITX1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Pitx1tm1Jdr for PITX1
         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


    Pathways & Interactions
    for PITX1 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1PKA activation in glucagon signalling
    		Development Role of Activin A in cell differentiation and proliferation0.33
    		Development_Role of Activin A in cell differentiation and proliferation0.33

    Pathway sources
    See GeneCards unified pathways
    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
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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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PITX1 (see all 7)
    OriGene shRNA RFP: PITX1
    OriGene siRNA: PITX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PITX1
    Clone
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    Additional cDNA 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):

    BU726300 BU678820 CR610821 CD106550 BU728971 BQ949996 BQ012307 BM969568 
    BQ774469 CR603120 CA313914 BM669565 BE900342 BU633380 CA313589 BM979362 
    BQ943703 AA480259 BX387202 BU538150 AI968981 BC009412 AU117580 CB250464 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCGCCGGGCG

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

    PITX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeMesencephalic Neural Crest CellsNeural Crest
    Skeletal MuscleExtraocular MusclesMuscle satellite CellsSkeletal Muscle
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Skeletal MuscleExtraocular MusclesMuscle Progenitor CellsSkeletal Muscle
    BoneMandibular ProcessBone
    LimbLimb BudLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11) 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Midbrain dopaminergic-like neurons (Generation of midbra...)
    Posterior foregut-like cells (A scalable, suspensi...)
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    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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    In Situ
    Assay Products:     
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    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 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 PITX36
    		 --
    		 50(a)
    		 possible ortholog
    		 GL343858.1(88457-89742)
    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
    		 19(a)
    		 1 → many
    		 IV(13119072-13124363)


    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
    ALX12  PHOX2B2  RAX2  VSX12  DRGX2  PITX22  PRRX22  ARX2  
    PRRX12  PHOX2A2  ISX2  ALX42  VSX22  RAX22  PITX32  ALX32  
    17 SIMAP similar genes for PITX1 using alignment to 4 protein entries:     PITX1_HUMAN (see all proteins):
    PITX2    OTX2    PITX3    PHOX2B    HOPX    PRRX1
    DUX2    MEOX1    PAX6    RAX2    HOXB1    MNX1
    NKX2-5    HOXA4    SHOX2    POU6F1    GSC2

    PITX1 for paralogs           About GeneDecksing



    Genomic Variants
    for PITX1 gene

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

    10/143 NCBI SNPs in PITX1 are shown (see all 143)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs119592431,2
    		C,F,H,--129555320(+) TGGGAA/GCTGTC 1 -- us2k16Minor allele frequency- G:0.27NA WA CSA 246
    rs566789931,2
    		C,F,--129555528(+) TTTTGC/TGAACT 1 -- us2k13Minor allele frequency- T:0.17WA CSA 122
    rs119592981,2
    		C,F,H,--129555531(+) TGCGAA/GCTCTT 1 -- us2k112Minor allele frequency- G:0.27NS EA NA WA CSA 656
    rs68726641,2
    		C,F,A,H,--129555589(+) GATCTC/TTCCAG 1 -- us2k19Minor allele frequency- T:0.11NS EA WA NA CSA 688
    rs65961881,2
    		C,F,A,H,--129556094(+) TCCCAA/TTAAGG 1 -- us2k113Minor allele frequency- T:0.12NS EA NA WA CSA 828
    rs65961891,2
    		C,F,A,H,--129556160(+) AAATTC/TCCCAA 1 -- us2k116Minor allele frequency- T:0.22NS EA WA NA CSA 2064
    rs113207401,2
    		C,--129556355(+) GGTTC-/AAAAAA 1 -- us2k10--------
    rs77003131,2
    		C,F,A,--129556391(+) TAGGTT/CTTAAA 1 -- us2k16Minor allele frequency- C:0.26NA WA CSA 424
    rs77182711,2
    		C,--129556584(+) GGCGCA/CCACAC 1 -- us2k10--------
    rs728003971,2
    		C,F,--129557249(+) AGGTCG/AAGAAC 1 -- int12Minor allele frequency- A:0.12WA NA 238

    HapMap Linkage Disequilibrium report for PITX1 (134362615 - 134370503 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PITX1: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PITX1 for disorders           About GeneDecksing

    OMIM gene information: 602149   
    OMIM disorders: 119800  
    UniProtKB/Swiss-Prot: PITX1_HUMAN, P78337
  • Defects in PITX1 are a cause of congenital clubfoot (CCF) [MIM:119800]; also known as talipes equinovarus
    • (TEV). Clubfoot is 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. Clubfoot appears to be a multifactorial trait

    20/30 diseases for PITX1 (see all 30):    About MalaCards
    ehlers-danlos syndrome    isolated acth deficiency    talipes equinovarus    facioscapulohumeral muscular dystrophy
    acth deficiency    treacher collins syndrome    fibromuscular dysplasia    muscular dystrophy
    pituitary adenoma    barrett's esophagus    oral squamous cell carcinoma    pituitary hypoplasia
    exophthalmos    squamous cell carcinoma    acute lymphoblastic leukemia    lymphoblastic leukemia
    acute diarrhea    diarrhea    adenoma    hepatitis c

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

    3 Novoseek 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)

    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 88):
    (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. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. (PubMed id 18950742)1, 2 Gurnett C.A.... Dobbs M.B. (2008)
    4. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)
    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. Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas. (PubMed id 11048804)1, 9 Tahara S....Teramoto A. (2000)
    7. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (PubMed id 17984056)1, 9 Dixit M....Chen Y.W. (2007)
    8. New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis. (PubMed id 17549029)1, 9 Picard C....Moreau A. (2007)
    9. Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain. (PubMed id 10369682)1, 9 Tremblay J.J....Drouin J. (1999)
    10. The role of the homeobox genes BFT and CDX2 in the pathogenesis of non-small cell lung cancer. (PubMed id 19414376)1, 9 Grimminger P....Brabender J. (2009)

    External Searches for PITX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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     PITX1 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Lines associated with PITX1: PureStem MEL2, NCr-fac Progenitor,
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