Details for: PITX1

Gene ID: 5307

Symbol: PITX1

Ensembl ID: ENSG00000069011

Description: paired like homeodomain 1

Associated with

  • Anatomical structure morphogenesis
    (GO:0009653)
  • Branchiomeric skeletal muscle development
    (GO:0014707)
  • Cartilage development
    (GO:0051216)
  • Chromatin
    (GO:0000785)
  • Cytoplasm
    (GO:0005737)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Embryonic hindlimb morphogenesis
    (GO:0035116)
  • Myoblast fate commitment
    (GO:0048625)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Nucleus
    (GO:0005634)
  • Pituitary gland development
    (GO:0021983)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Skeletal system development
    (GO:0001501)
  • Transcription regulator complex
    (GO:0005667)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 83.8984
    Cell Significance Index: -13.0500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 52.1204
    Cell Significance Index: -13.2200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 24.5487
    Cell Significance Index: -11.5900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.6573
    Cell Significance Index: -13.1400
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 4.9874
    Cell Significance Index: 27.7600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 4.0980
    Cell Significance Index: 191.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.7400
    Cell Significance Index: 104.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.3527
    Cell Significance Index: -13.2300
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 2.7662
    Cell Significance Index: 23.7700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.5580
    Cell Significance Index: 34.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.9263
    Cell Significance Index: 366.5800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.8436
    Cell Significance Index: 30.3800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1737
    Cell Significance Index: 70.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0108
    Cell Significance Index: 99.9900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9891
    Cell Significance Index: 160.8800
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 0.9599
    Cell Significance Index: 20.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8834
    Cell Significance Index: 96.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7684
    Cell Significance Index: 693.7700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4794
    Cell Significance Index: 33.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4124
    Cell Significance Index: 50.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3817
    Cell Significance Index: 8.2700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.3545
    Cell Significance Index: 3.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3401
    Cell Significance Index: 9.8000
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 0.2209
    Cell Significance Index: 1.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1698
    Cell Significance Index: 33.7000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1636
    Cell Significance Index: 19.0600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1226
    Cell Significance Index: 1.9500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0848
    Cell Significance Index: 15.2900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0113
    Cell Significance Index: 5.0100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0038
    Cell Significance Index: 0.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0011
    Cell Significance Index: 0.0400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0028
    Cell Significance Index: -0.1200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0038
    Cell Significance Index: -1.7200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0067
    Cell Significance Index: -12.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0079
    Cell Significance Index: -0.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0088
    Cell Significance Index: -4.8000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0094
    Cell Significance Index: -0.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0120
    Cell Significance Index: -22.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0142
    Cell Significance Index: -21.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0158
    Cell Significance Index: -21.4700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0163
    Cell Significance Index: -11.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0164
    Cell Significance Index: -12.4500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0165
    Cell Significance Index: -0.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0177
    Cell Significance Index: -11.2500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0204
    Cell Significance Index: -0.8400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0206
    Cell Significance Index: -15.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0244
    Cell Significance Index: -13.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0312
    Cell Significance Index: -11.2000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0341
    Cell Significance Index: -0.5700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0439
    Cell Significance Index: -12.6200
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0590
    Cell Significance Index: -0.3700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0658
    Cell Significance Index: -6.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0672
    Cell Significance Index: -13.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0688
    Cell Significance Index: -14.4900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0755
    Cell Significance Index: -9.6800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0839
    Cell Significance Index: -11.5200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0840
    Cell Significance Index: -12.2100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0844
    Cell Significance Index: -0.5500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0876
    Cell Significance Index: -11.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0905
    Cell Significance Index: -15.4600
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.0969
    Cell Significance Index: -1.0000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1048
    Cell Significance Index: -1.5800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1113
    Cell Significance Index: -7.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1133
    Cell Significance Index: -12.9800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1136
    Cell Significance Index: -1.2900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1157
    Cell Significance Index: -13.6400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1327
    Cell Significance Index: -13.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1363
    Cell Significance Index: -3.7100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1637
    Cell Significance Index: -1.7800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1831
    Cell Significance Index: -12.3100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1879
    Cell Significance Index: -12.1200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2020
    Cell Significance Index: -5.0500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2046
    Cell Significance Index: -7.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2072
    Cell Significance Index: -15.9000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2124
    Cell Significance Index: -13.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2296
    Cell Significance Index: -17.1100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.2365
    Cell Significance Index: -1.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2365
    Cell Significance Index: -4.9500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2466
    Cell Significance Index: -3.5100
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.2508
    Cell Significance Index: -1.5700
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.2527
    Cell Significance Index: -2.7700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2561
    Cell Significance Index: -15.7400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2632
    Cell Significance Index: -14.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2801
    Cell Significance Index: -14.5500
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.2809
    Cell Significance Index: -2.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2906
    Cell Significance Index: -13.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3042
    Cell Significance Index: -15.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3176
    Cell Significance Index: -8.4800
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.3378
    Cell Significance Index: -3.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3519
    Cell Significance Index: -9.4300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3527
    Cell Significance Index: -2.3900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3541
    Cell Significance Index: -8.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3555
    Cell Significance Index: -12.3600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3631
    Cell Significance Index: -12.7200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.3737
    Cell Significance Index: -9.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3737
    Cell Significance Index: -16.5300
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.3811
    Cell Significance Index: -4.0200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4093
    Cell Significance Index: -13.4000
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.4333
    Cell Significance Index: -5.2700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4347
    Cell Significance Index: -13.8500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Homodomain structure:** PITX1 contains a highly conserved paired-like homeodomain, which is essential for its DNA-binding activity and transcriptional regulation. 2. **Tissue specificity:** PITX1 is significantly expressed in stratified epithelial cells, epithelial cells of the esophagus, keratinocytes, and other cell types involved in immune and developmental processes. 3. **Transcriptional regulation:** PITX1 acts as a transcriptional activator, regulating the expression of target genes involved in skeletal muscle development, cartilage development, and pituitary gland formation. 4. **Cell fate commitment:** PITX1 influences the commitment of myoblasts to the skeletal muscle lineage, highlighting its role in immune system development. **Pathways and Functions:** 1. **Anatomical structure morphogenesis:** PITX1 regulates the development of anatomical structures, such as the skeletal system, cartilage, and pituitary gland. 2. **Branchiomeric skeletal muscle development:** PITX1 plays a crucial role in the development of skeletal muscle in the branchial region. 3. **Cartilage development:** PITX1 influences the development of cartilage, a key component of the skeletal system. 4. **Myoblast fate commitment:** PITX1 regulates the commitment of myoblasts to the skeletal muscle lineage. 5. **Immune system development:** PITX1 influences the development of the immune system, including the development of stratified epithelial cells and the commitment of myoblasts to the immune lineage. **Clinical Significance:** 1. **Skeletal disorders:** PITX1 mutations have been associated with skeletal disorders, such as brachydactyly and limb abnormalities. 2. **Immune system dysregulation:** PITX1 dysregulation has been linked to immune system dysregulation, including autoimmune diseases and immunodeficiency disorders. 3. **Cancer:** PITX1 expression has been observed in various cancers, including breast cancer and prostate cancer, suggesting its potential role in tumorigenesis. 4. **Pituitary gland disorders:** PITX1 mutations have been associated with pituitary gland disorders, such as hypopituitarism and acromegaly. In conclusion, PITX1 is a critical transcription factor involved in various developmental processes, including embryonic morphogenesis, skeletal muscle development, cartilage development, and pituitary gland formation. Its dysregulation has been linked to immune system dysregulation, skeletal disorders, and cancer, highlighting the importance of PITX1 in maintaining immune homeostasis and overall health.

Genular Protein ID: 1307069738

Symbol: PITX1_HUMAN

Name: Pituitary homeobox 1

UniProtKB Accession Codes:

P78337 A8K3M0 D3DQB0 O14677 O60425 Q9BTI5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 2 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9070926

Title: Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft).

PubMed ID: 9070926

DOI: 10.1006/geno.1996.4558

PubMed ID: 9337397

Title: Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.

PubMed ID: 9337397

DOI: 10.1007/s003359900589

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 23022097

Title: Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

PubMed ID: 23022097

DOI: 10.1016/j.ajhg.2012.08.014

PubMed ID: 22258522

Title: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

PubMed ID: 22258522

DOI: 10.1038/ejhg.2011.264

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 26612202

Title: Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

PubMed ID: 26612202

DOI: 10.1093/hmg/ddv486

PubMed ID: 18950742

Title: Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

PubMed ID: 18950742

DOI: 10.1016/j.ajhg.2008.10.004

Sequence Information:

  • Length: 314
  • Mass: 34128
  • Checksum: F0DFE45E14508A43
  • Sequence:
    • MDAFKGGMSL ERLPEGLRPP PPPPHDMGPA FHLARPADPR EPLENSASES SDTELPEKER 
GGEPKGPEDS GAGGTGCGGA DDPAKKKKQR RQRTHFTSQQ LQELEATFQR NRYPDMSMRE 
EIAVWTNLTE PRVRVWFKNR RAKWRKRERN QQLDLCKGGY VPQFSGLVQP YEDVYAAGYS 
YNNWAAKSLA PAPLSTKSFT FFNSMSPLSS QSMFSAPSSI SSMTMPSSMG PGAVPGMPNS 
GLNNINNLTG SSLNSAMSPG ACPYGTPASP YSVYRDTCNS SLASLRLKSK QHSSFGYGGL 
QGPASGLNAC QYNS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.