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Aliases for POU1F1 Gene

Aliases for POU1F1 Gene

  • POU Class 1 Homeobox 1 2 3 5
  • Growth Hormone Factor 1 2 3 4
  • Pit-1 3 4
  • GHF-1 3 4
  • PIT1 3 4
  • POU Domain, Class 1, Transcription Factor 1 3
  • POU Domain Class 1, Transcription Factor 1 2
  • POU1F1a 3
  • CPHD1 3
  • GHF1 4

External Ids for POU1F1 Gene

Previous HGNC Symbols for POU1F1 Gene

  • PIT1

Previous GeneCards Identifiers for POU1F1 Gene

  • GC03M087883
  • GC03M090090
  • GC03M087188
  • GC03M087229
  • GC03M087391
  • GC03M087307

Summaries for POU1F1 Gene

Entrez Gene Summary for POU1F1 Gene

  • This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for POU1F1 Gene

POU1F1 (POU Class 1 Homeobox 1) is a Protein Coding gene. Diseases associated with POU1F1 include pituitary hormone deficiency, combined, 1 and hypothyroidism due to deficient transcription factors involved in pituitary development or function. Among its related pathways are Glucocorticoid receptor regulatory network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is POU6F1.

UniProtKB/Swiss-Prot for POU1F1 Gene

  • Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5-TAAAT-3. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).

Gene Wiki entry for POU1F1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU1F1 Gene

Genomics for POU1F1 Gene

Regulatory Elements for POU1F1 Gene

Genomic Location for POU1F1 Gene

Chromosome:
3
Start:
87,259,404 bp from pter
End:
87,276,587 bp from pter
Size:
17,184 bases
Orientation:
Minus strand

Genomic View for POU1F1 Gene

Genes around POU1F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU1F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU1F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU1F1 Gene

Proteins for POU1F1 Gene

  • Protein details for POU1F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28069-PIT1_HUMAN
    Recommended name:
    Pituitary-specific positive transcription factor 1
    Protein Accession:
    P28069
    Secondary Accessions:
    • O75757
    • Q15132
    • Q15133
    • Q9UD34
    • Q9UEL3

    Protein attributes for POU1F1 Gene

    Size:
    291 amino acids
    Molecular mass:
    32912 Da
    Quaternary structure:
    • Interacts with PITX1 (PubMed:26612202). Interacts with LHX3 (PubMed:26612202). Interacts with ELK1 (PubMed:26612202).
    SequenceCaution:
    • Sequence=CAA54440.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for POU1F1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU1F1 Gene

Proteomics data for POU1F1 Gene at MOPED

Post-translational modifications for POU1F1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU1F1 Gene

No data available for DME Specific Peptides for POU1F1 Gene

Domains & Families for POU1F1 Gene

Gene Families for POU1F1 Gene

Protein Domains for POU1F1 Gene

Suggested Antigen Peptide Sequences for POU1F1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P28069

UniProtKB/Swiss-Prot:

PIT1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the POU transcription factor family. Class-1 subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 POU-specific domain.
Family:
  • Belongs to the POU transcription factor family. Class-1 subfamily.
genes like me logo Genes that share domains with POU1F1: view

Function for POU1F1 Gene

Molecular function for POU1F1 Gene

GENATLAS Biochemistry:
POU domain,class 1,transcription factor 1,mammalian homeo box backfoot,Drosophila bicoid related,expressed in Rathke pouch,at an early stage of pituitary development and in a subset of adult anterior pituitary cells that express POMC,binding PITX2,reciprocally interacting with GATA2 for the mediation of signaling gradient-induced determination of pituitary cell types
UniProtKB/Swiss-Prot Function:
Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5-TAAAT-3. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).

Gene Ontology (GO) - Molecular Function for POU1F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 26612202
GO:0001102 RNA polymerase II activating transcription factor binding IPI 9685346
GO:0001105 RNA polymerase II transcription coactivator activity IDA 9685346
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with POU1F1: view
genes like me logo Genes that share phenotypes with POU1F1: view

Human Phenotype Ontology for POU1F1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Targeted motifs for POU1F1 Gene
HOMER Transcription Factor Regulatory Elements motif POU1F1
  • Consensus sequence: ATGMATATDC Submotif: canonical Cell Type: GCrat GEO ID: GSE58009

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA and Transcription Factor Targets for POU1F1 Gene

Localization for POU1F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU1F1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POU1F1 Gene COMPARTMENTS Subcellular localization image for POU1F1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for POU1F1 Gene

Pathways & Interactions for POU1F1 Gene

genes like me logo Genes that share pathways with POU1F1: view

Pathways by source for POU1F1 Gene

1 BioSystems pathway for POU1F1 Gene

Gene Ontology (GO) - Biological Process for POU1F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001708 cell fate specification IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0008340 determination of adult lifespan IEA --
GO:0021984 adenohypophysis development IEA --
genes like me logo Genes that share ontologies with POU1F1: view

No data available for SIGNOR curated interactions for POU1F1 Gene

Drugs & Compounds for POU1F1 Gene

(19) Drugs for POU1F1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for POU1F1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with POU1F1: view

Transcripts for POU1F1 Gene

mRNA/cDNA for POU1F1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POU1F1 Gene

POU class 1 homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POU1F1 Gene

No ASD Table

Relevant External Links for POU1F1 Gene

GeneLoc Exon Structure for
POU1F1
ECgene alternative splicing isoforms for
POU1F1

Expression for POU1F1 Gene

mRNA expression in normal human tissues for POU1F1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU1F1 Gene

This gene is overexpressed in Pituitary (x50.8).

Protein differential expression in normal tissues from HIPED for POU1F1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POU1F1 Gene



SOURCE GeneReport for Unigene cluster for POU1F1 Gene Hs.591654

genes like me logo Genes that share expression patterns with POU1F1: view

Protein tissue co-expression partners for POU1F1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for POU1F1 Gene

Orthologs for POU1F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU1F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POU1F1 35
  • 99.47 (n)
  • 99.68 (a)
POU1F1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIT-1 36
  • 87 (a)
OneToOne
POU1F1 35
  • 91.41 (n)
  • 96.22 (a)
dog
(Canis familiaris)
Mammalia POU1F1 35
  • 86.94 (n)
  • 91.75 (a)
POU1F1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pou1f1 16
Pou1f1 35
  • 87.74 (n)
  • 95.53 (a)
Pou1f1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POU1F1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POU1F1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou1f1 35
  • 88.66 (n)
  • 95.53 (a)
chicken
(Gallus gallus)
Aves POU1F1 35
  • 78.4 (n)
  • 86.67 (a)
PIT-1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POU1F1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pou1f1 35
  • 74.87 (n)
  • 78.86 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8148 35
zebrafish
(Danio rerio)
Actinopterygii pou1f1 36
  • 63 (a)
OneToOne
pou1f1 35
  • 66.45 (n)
  • 71.85 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-6 36
  • 29 (a)
OneToOne
Species with no ortholog for POU1F1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POU1F1 Gene

ENSEMBL:
Gene Tree for POU1F1 (if available)
TreeFam:
Gene Tree for POU1F1 (if available)

Paralogs for POU1F1 Gene

genes like me logo Genes that share paralogs with POU1F1: view

Variants for POU1F1 Gene

Sequence variations from dbSNP and Humsavar for POU1F1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1051612 - 87,276,452(-) AAGCT(A/C/G/T)GGCAA reference, missense
VAR_003777 Pituitary hormone deficiency, combined, 1 (CPHD1)
VAR_003778 Pituitary hormone deficiency, combined, 1 (CPHD1)
VAR_003779 Pituitary hormone deficiency, combined, 1 (CPHD1)
rs1131815 - 87,260,091(+) AGCAT(A/C)TTTAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for POU1F1 Gene

Variant ID Type Subtype PubMed ID
nsv527279 CNV Gain 19592680
nsv877132 CNV Loss 21882294
nsv877133 CNV Loss 21882294
nsv877134 CNV Loss 21882294
nsv877135 CNV Loss 21882294
nsv877136 CNV Gain 21882294
nsv470749 CNV Loss 18288195

Variation tolerance for POU1F1 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POU1F1 Gene

HapMap Linkage Disequilibrium report
POU1F1
Human Gene Mutation Database (HGMD)
POU1F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU1F1 Gene

Disorders for POU1F1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for POU1F1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PIT1_HUMAN
  • Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature. {ECO:0000269 PubMed:11297581, ECO:0000269 PubMed:1472057, ECO:0000269 PubMed:1509262, ECO:0000269 PubMed:1509263, ECO:0000269 PubMed:15928241, ECO:0000269 PubMed:16968807, ECO:0000269 PubMed:22010633, ECO:0000269 PubMed:26612202, ECO:0000269 PubMed:7852536, ECO:0000269 PubMed:8768831, ECO:0000269 PubMed:9485179, ECO:0000269 PubMed:9626142}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POU1F1

Genetic Association Database (GAD)
POU1F1
Human Genome Epidemiology (HuGE) Navigator
POU1F1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POU1F1
genes like me logo Genes that share disorders with POU1F1: view

No data available for Genatlas for POU1F1 Gene

Publications for POU1F1 Gene

  1. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (PMID: 15928241) Turton J.P.G. … Dattani M.T. (J. Clin. Endocrinol. Metab. 2005) 3 4 23 48 67
  2. The Pit-1/Pou1f1 transcription factor regulates and correlates with prolactin expression in human breast cell lines and tumors. (PMID: 19808898) Ben-Batalla I. … Perez-Fernandez R. (Endocr. Relat. Cancer 2010) 3 23
  3. Expression of Pit-1 in nonsomatotrope cell lines induces human growth hormone locus control region histone modification and hGH-N transcription. (PMID: 19427323) Hogan K.A. … Shewchuk B.M. (J. Mol. Biol. 2009) 3 23
  4. Expression of the synaptotagmin I gene is enhanced by binding of the pituitary-specific transcription factor, POU1F1. (PMID: 19608642) Howard P.W. … Maurer R.A. (Mol. Endocrinol. 2009) 3 23
  5. Identification and analysis of prophet of Pit-1-binding sites in human Pit-1 gene. (PMID: 18653712) Ikeshita N. … Okimura Y. (Endocrinology 2008) 3 23

Products for POU1F1 Gene

Sources for POU1F1 Gene

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