Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PITX1 (paired like homeodomain 1)

Identity

Alias_namesBFT
paired-like homeodomain transcription factor 1
paired-like homeodomain 1
Alias_symbol (synonym)PTX1
POTX
Other aliasCCF
LBNBG
HGNC (Hugo) PITX1
LocusID (NCBI) 5307
Atlas_Id 46355
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 134363424 and ends at 134369964 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NCF2 (1q25.3) / PITX1 (5q31.1)PITX1 (5q31.1) / P4HA2 (5q31.1)PITX1 (5q31.1) / PCNP (3q12.3)
PITX1 (5q31.1) / SH3BGRL3 (1p36.11)PRKD2 (19q13.32) / PITX1 (5q31.1)PITX1 5q31.1 / P4HA2 5q31.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PITX1   9004
Cards
Entrez_Gene (NCBI)PITX1  5307  paired like homeodomain 1
AliasesBFT; CCF; LBNBG; POTX; 
PTX1
GeneCards (Weizmann)PITX1
Ensembl hg19 (Hinxton)ENSG00000069011 [Gene_View]  chr5:134363424-134369964 [Contig_View]  PITX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000069011 [Gene_View]  chr5:134363424-134369964 [Contig_View]  PITX1 [Vega]
ICGC DataPortalENSG00000069011
TCGA cBioPortalPITX1
AceView (NCBI)PITX1
Genatlas (Paris)PITX1
WikiGenes5307
SOURCE (Princeton)PITX1
Genetics Home Reference (NIH)PITX1
Genomic and cartography
GoldenPath hg19 (UCSC)PITX1  -     chr5:134363424-134369964 -  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PITX1  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblPITX1 - 5q31.1 [CytoView hg19]  PITX1 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBIPITX1 [Mapview hg19]  PITX1 [Mapview hg38]
OMIM119800   186550   602149   
Gene and transcription
Genbank (Entrez)AK290635 AL578756 BC003685 BC009412 BX362641
RefSeq transcript (Entrez)NM_002653
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_012114 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)PITX1
Cluster EST : UnigeneHs.84136 [ NCBI ]
CGAP (NCI)Hs.84136
Alternative Splicing GalleryENSG00000069011
Gene ExpressionPITX1 [ NCBI-GEO ]   PITX1 [ EBI - ARRAY_EXPRESS ]   PITX1 [ SEEK ]   PITX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PITX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5307
GTEX Portal (Tissue expression)PITX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78337   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78337  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78337
Splice isoforms : SwissVarP78337
PhosPhoSitePlusP78337
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeobox_Pitx/unc30    Homeodomain-like    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PITX1
DMDM Disease mutations5307
Blocks (Seattle)PITX1
SuperfamilyP78337
Human Protein AtlasENSG00000069011
Peptide AtlasP78337
HPRD03688
IPIIPI00019182   IPI01024748   IPI00967351   IPI00967620   
Protein Interaction databases
DIP (DOE-UCLA)P78337
IntAct (EBI)P78337
FunCoupENSG00000069011
BioGRIDPITX1
STRING (EMBL)PITX1
ZODIACPITX1
Ontologies - Pathways
QuickGOP78337
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II transcription factor binding  skeletal system development  protein binding  nucleus  transcription factor complex  nucleolus  cytoplasm  transcription from RNA polymerase II promoter  anatomical structure morphogenesis  branchiomeric skeletal muscle development  pituitary gland development  embryonic hindlimb morphogenesis  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  myoblast fate commitment  cartilage development  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II transcription factor binding  skeletal system development  protein binding  nucleus  transcription factor complex  nucleolus  cytoplasm  transcription from RNA polymerase II promoter  anatomical structure morphogenesis  branchiomeric skeletal muscle development  pituitary gland development  embryonic hindlimb morphogenesis  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  myoblast fate commitment  cartilage development  
NDEx NetworkPITX1
Atlas of Cancer Signalling NetworkPITX1
Wikipedia pathwaysPITX1
Orthology - Evolution
OrthoDB5307
GeneTree (enSembl)ENSG00000069011
Phylogenetic Trees/Animal Genes : TreeFamPITX1
HOVERGENP78337
HOGENOMP78337
Homologs : HomoloGenePITX1
Homology/Alignments : Family Browser (UCSC)PITX1
Gene fusions - Rearrangements
Fusion : MitelmanPITX1/P4HA2 [5q31.1/5q31.1]  
Fusion: TCGAPITX1 5q31.1 P4HA2 5q31.1 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITX1
dbVarPITX1
ClinVarPITX1
1000_GenomesPITX1 
Exome Variant ServerPITX1
ExAC (Exome Aggregation Consortium)PITX1 (select the gene name)
Genetic variants : HAPMAP5307
Genomic Variants (DGV)PITX1 [DGVbeta]
DECIPHER (Syndromes)5:134363424-134369964  ENSG00000069011
CONAN: Copy Number AnalysisPITX1 
Mutations
ICGC Data PortalPITX1 
TCGA Data PortalPITX1 
Broad Tumor PortalPITX1
OASIS PortalPITX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PITX1
DgiDB (Drug Gene Interaction Database)PITX1
DoCM (Curated mutations)PITX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITX1 (select a term)
intoGenPITX1
Cancer3DPITX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM119800    186550    602149   
Orphanet1510    20837    20836   
MedgenPITX1
Genetic Testing Registry PITX1
NextProtP78337 [Medical]
TSGene5307
GENETestsPITX1
Huge Navigator PITX1 [HugePedia]
snp3D : Map Gene to Disease5307
BioCentury BCIQPITX1
ClinGenPITX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5307
Chemical/Pharm GKB GenePA33338
Clinical trialPITX1
Miscellaneous
canSAR (ICR)PITX1 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITX1
EVEXPITX1
GoPubMedPITX1
iHOPPITX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:14:28 CEST 2017

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