Details for: POU1F1

Gene ID: 5449

Symbol: POU1F1

Ensembl ID: ENSG00000064835

Description: POU class 1 homeobox 1

Associated with

  • Adenohypophysis development
    (GO:0021984)
  • Chromatin
    (GO:0000785)
  • Cytosol
    (GO:0005829)
  • 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)
  • Lncrna binding
    (GO:0106222)
  • Negative regulation of cell population proliferation
    (GO:0008285)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • 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)

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: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.4941
    Cell Significance Index: 36.1900
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.4561
    Cell Significance Index: 5.9900
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.4089
    Cell Significance Index: 5.9600
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.3000
    Cell Significance Index: 2.7500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.2889
    Cell Significance Index: 3.6500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.2801
    Cell Significance Index: 2.9000
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.1399
    Cell Significance Index: 1.7700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1288
    Cell Significance Index: 1.8500
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.0939
    Cell Significance Index: 1.1800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.0755
    Cell Significance Index: -0.1700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.0639
    Cell Significance Index: 1.3000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0508
    Cell Significance Index: 1.3600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0378
    Cell Significance Index: 0.9400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0369
    Cell Significance Index: 0.6200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0320
    Cell Significance Index: 0.7000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0283
    Cell Significance Index: 1.3200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0206
    Cell Significance Index: 0.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0134
    Cell Significance Index: 2.4100
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.0086
    Cell Significance Index: 0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0002
    Cell Significance Index: -0.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0004
    Cell Significance Index: -0.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0004
    Cell Significance Index: -0.5800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0005
    Cell Significance Index: -0.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0006
    Cell Significance Index: -0.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0007
    Cell Significance Index: -0.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0009
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0009
    Cell Significance Index: -0.6500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0010
    Cell Significance Index: -0.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0010
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0012
    Cell Significance Index: -0.7200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0013
    Cell Significance Index: -0.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0013
    Cell Significance Index: -0.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0014
    Cell Significance Index: -0.2800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0020
    Cell Significance Index: -0.9200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0024
    Cell Significance Index: -0.2800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0024
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0025
    Cell Significance Index: -0.4200
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0030
    Cell Significance Index: -0.0300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0034
    Cell Significance Index: -0.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0052
    Cell Significance Index: -0.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0052
    Cell Significance Index: -0.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0061
    Cell Significance Index: -0.3100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0093
    Cell Significance Index: -0.1300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0096
    Cell Significance Index: -0.4500
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0097
    Cell Significance Index: -0.1900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0101
    Cell Significance Index: -0.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0103
    Cell Significance Index: -0.7900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0119
    Cell Significance Index: -0.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0119
    Cell Significance Index: -0.6200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0122
    Cell Significance Index: -0.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0122
    Cell Significance Index: -0.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0135
    Cell Significance Index: -0.7600
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0137
    Cell Significance Index: -0.1900
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: -0.0161
    Cell Significance Index: -0.2100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0171
    Cell Significance Index: -0.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0181
    Cell Significance Index: -0.8000
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0185
    Cell Significance Index: -0.3000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0188
    Cell Significance Index: -0.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0188
    Cell Significance Index: -0.6600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0198
    Cell Significance Index: -0.5100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0209
    Cell Significance Index: -0.5700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0211
    Cell Significance Index: -0.8000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0214
    Cell Significance Index: -0.2500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0216
    Cell Significance Index: -0.5400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0220
    Cell Significance Index: -0.3000
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0222
    Cell Significance Index: -0.2700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0225
    Cell Significance Index: -0.4700
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0226
    Cell Significance Index: -0.4500
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.0231
    Cell Significance Index: -0.2500
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.0240
    Cell Significance Index: -0.3300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0241
    Cell Significance Index: -0.5200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0243
    Cell Significance Index: -0.6500
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.0243
    Cell Significance Index: -0.2200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0248
    Cell Significance Index: -0.5200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0249
    Cell Significance Index: -0.7100
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0252
    Cell Significance Index: -0.3300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0253
    Cell Significance Index: -0.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0257
    Cell Significance Index: -0.7400
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: -0.0262
    Cell Significance Index: -0.2400
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0263
    Cell Significance Index: -0.3500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0269
    Cell Significance Index: -0.5700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0275
    Cell Significance Index: -0.4600
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0277
    Cell Significance Index: -0.3500
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.0303
    Cell Significance Index: -0.3500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0314
    Cell Significance Index: -0.6200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0316
    Cell Significance Index: -0.3000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0319
    Cell Significance Index: -0.6400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0325
    Cell Significance Index: -0.6400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0326
    Cell Significance Index: -0.3000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0326
    Cell Significance Index: -0.8300
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0332
    Cell Significance Index: -0.3800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0332
    Cell Significance Index: -0.5600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0333
    Cell Significance Index: -1.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0336
    Cell Significance Index: -0.5800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0338
    Cell Significance Index: -0.6600
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.0347
    Cell Significance Index: -0.3800
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0359
    Cell Significance Index: -0.4700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0363
    Cell Significance Index: -0.8700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0363
    Cell Significance Index: -0.4700
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0374
    Cell Significance Index: -0.5600

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:** POU1F1 is a transcription factor that belongs to the POU family of homeobox genes. It contains a characteristic homeodomain, which is essential for its DNA-binding activity. POU1F1 is primarily expressed in cells of the pituitary gland, but its expression is also observed in other cell types, including blood vessel endothelial cells, plasma cells, and neurons. The protein structure of POU1F1 consists of a homeodomain, a DNA-binding domain, and a transcription activation domain. **Pathways and Functions:** POU1F1 regulates various cellular processes through its interactions with other transcription factors and signaling pathways. Some of the key pathways and functions of POU1F1 include: * Adenohypophysis development: POU1F1 plays a crucial role in the development of the adenohypophysis, a part of the pituitary gland responsible for producing hormones. * Chromatin remodeling: POU1F1 interacts with chromatin-modifying enzymes to regulate gene expression and chromatin structure. * Transcription regulation: POU1F1 acts as a transcriptional activator or repressor, depending on the context, to regulate the expression of target genes. * Cell proliferation and differentiation: POU1F1 regulates cell proliferation and differentiation by controlling the expression of genes involved in these processes. **Clinical Significance:** POU1F1 has been implicated in various diseases, including: * Pituitary tumors: POU1F1 is often overexpressed in pituitary tumors, suggesting its potential as a diagnostic marker or therapeutic target. * Neurodegenerative diseases: POU1F1 has been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where it may play a role in regulating neuronal function and survival. * Cancer: POU1F1 has been found to be overexpressed in certain types of cancer, including breast cancer and ovarian cancer, suggesting its potential as a therapeutic target. In conclusion, POU1F1 is a transcription factor that plays a critical role in regulating developmental and cellular processes. Its expression is observed in a wide range of cell types, and its dysregulation has been implicated in various diseases. Further studies are needed to fully elucidate the functions of POU1F1 and its potential therapeutic applications.

Genular Protein ID: 2508895503

Symbol: PIT1_HUMAN

Name: Pituitary-specific positive transcription factor 1

UniProtKB Accession Codes:

P28069 O75757 Q15132 Q15133 Q9UD34 Q9UEL3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 2 ExpressionAtlas 1 GO 17 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1956794

Title: Cloning of the human cDNA for transcription factor Pit-1.

PubMed ID: 1956794

DOI: 10.1093/nar/19.22.6329

PubMed ID: 1370379

Title: Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1.

PubMed ID: 1370379

DOI: 10.1016/0167-4781(92)90494-k

PubMed ID: 7721104

Title: A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene.

PubMed ID: 7721104

DOI: 10.1016/0378-1119(94)00757-j

PubMed ID: 1487156

Title: Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1.

PubMed ID: 1487156

DOI: 10.1016/0378-1119(92)90234-g

PubMed ID: 7852536

Title: A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates.

PubMed ID: 7852536

DOI: 10.1210/jcem.80.2.7852536

PubMed ID: 34342803

Title: The 9aaTAD Activation Domains in the Yamanaka Transcription Factors Oct4, Sox2, Myc, and Klf4.

PubMed ID: 34342803

DOI: 10.1007/s12015-021-10225-8

PubMed ID: 1472057

Title: Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

PubMed ID: 1472057

DOI: 10.1016/0006-291x(92)92281-2

PubMed ID: 1509262

Title: A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

PubMed ID: 1509262

DOI: 10.1126/science.257.5073.1115

PubMed ID: 1509263

Title: Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

PubMed ID: 1509263

DOI: 10.1126/science.257.5073.1118

PubMed ID: 8346040

Title: Cloning of a human GHF-1/Pit-1 cDNA variant.

PubMed ID: 8346040

DOI: 10.1093/nar/21.15.3584

PubMed ID: 8768831

Title: A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.

PubMed ID: 8768831

DOI: 10.1210/jcem.81.8.8768831

PubMed ID: 9485179

Title: Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.

PubMed ID: 9485179

DOI: 10.1159/000023134

PubMed ID: 9626142

Title: Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.

PubMed ID: 9626142

DOI: 10.1210/jcem.83.6.4901

PubMed ID: 11297581

Title: Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the PIT1/POU1F1 gene.

PubMed ID: 11297581

DOI: 10.1210/jcem.86.4.7371

PubMed ID: 15928241

Title: Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

PubMed ID: 15928241

DOI: 10.1210/jc.2005-0570

PubMed ID: 16968807

Title: Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

PubMed ID: 16968807

DOI: 10.1210/jc.2005-2289

PubMed ID: 22010633

Title: Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to c ombined pituitary hormone deficiency.

PubMed ID: 22010633

DOI: 10.1111/j.1365-2265.2011.04236.x

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

Sequence Information:

  • Length: 291
  • Mass: 32912
  • Checksum: 0866777E3E425873
  • Sequence:
    • MSCQAFTSAD TFIPLNSDAS ATLPLIMHHS AAECLPVSNH ATNVMSTATG LHYSVPSCHY 
GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPIHQPLLAE DPTAADFKQE LRRKSKLVEE 
PIDMDSPEIR ELEKFANEFK VRRIKLGYTQ TNVGEALAAV HGSEFSQTTI CRFENLQLSF 
KNACKLKAIL SKWLEEAEQV GALYNEKVGA NERKRKRRTT ISIAAKDALE RHFGEQNKPS 
SQEIMRMAEE LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R

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.