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Aliases for POU1F1 Gene

Aliases for POU1F1 Gene

  • POU Class 1 Homeobox 1 2 3
  • Growth Hormone Factor 1 2 3 4
  • PIT1 3 4 6
  • PiT-1 3 4
  • CPHD1 3 6
  • GHF-1 3 4
  • Pituitary-Specific Positive Transcription Factor 1 3
  • POU Domain, Class 1, Transcription Factor 1 3
  • POU Domain Class 1, Transcription Factor 1 2
  • POU1F1a 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 pou1f1-related combined pituitary hormone deficiency. Among its related pathways are Glucocorticoid receptor regulatory network. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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. Activates growth hormone and prolactin genes. Specifically binds to the consensus sequence 5-TAAAT-3

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    No Data Available
    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 for POU1F1 Gene

Gene Families for POU1F1 Gene

HGNC:
  • POU :Homeoboxes / POU class

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 :
  • P28069
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. Activates growth hormone and prolactin genes. Specifically binds to the consensus sequence 5-TAAAT-3

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:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 12612071
GO:0001105 RNA polymerase II transcription coactivator activity IDA 9685346
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with POU1F1: view
genes like me logo Genes that share phenotypes with POU1F1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POU1F1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription 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 3

Gene Ontology (GO) - Cellular Components for POU1F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with POU1F1: view

Pathways 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006355 regulation of transcription, DNA-templated IDA 11301317
GO:0006366 transcription from RNA polymerase II promoter TAS 1487156
GO:0008284 positive regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with POU1F1: view

Compounds for POU1F1 Gene

(28) Novoseek inferred chemical compound relationships for POU1F1 Gene

Compound -log(P) Hits PubMed IDs
ptx1 83.5 7
acth 59.9 15
forskolin 43 10
bromocriptine 42.6 2
ribonucleic acid 40.1 7
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POU1F1

Primer Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for POU1F1 Gene

This gene is overexpressed in Pituitary (50.8).

Protein differential expression in normal tissues for POU1F1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression 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 expressions with POU1F1: view

Expression partners for POU1F1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia POU1F1 35
  • 91.41 (n)
  • 96.22 (a)
PIT-1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POU1F1 35
  • 86.94 (n)
  • 91.75 (a)
POU1F1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pou1f1 35
  • 87.74 (n)
  • 95.53 (a)
Pou1f1 16
Pou1f1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POU1F1 35
  • 99.47 (n)
  • 99.68 (a)
POU1F1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou1f1 35
  • 88.66 (n)
  • 95.53 (a)
oppossum
(Monodelphis domestica)
Mammalia POU1F1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POU1F1 36
  • 74 (a)
OneToOne
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)
zebrafish
(Danio rerio)
Actinopterygii pou1f1 35
  • 66.45 (n)
  • 71.85 (a)
pou1f1 36
  • 63 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8148 35
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 MAF
rs300977 -- 87,273,910(+) AACAG(C/T)GTATT intron-variant
rs300978 -- 87,274,184(+) AAGCC(G/T)TACAT intron-variant
rs300979 -- 87,274,440(+) AAGTA(C/T)GGTTA intron-variant
rs300980 -- 87,274,674(+) AAACA(C/T)ATTTA intron-variant
rs300981 -- 87,275,374(+) AATAA(C/T)AAAAG intron-variant

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

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

(1) OMIM Diseases for POU1F1 Gene (173110)

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: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.

(4) University of Copenhagen DISEASES for POU1F1 Gene

(29) Novoseek inferred disease relationships for POU1F1 Gene

Disease -log(P) Hits PubMed IDs
panhypopituitarism 95.5 68
tsh deficiency 91.6 14
septo-optic dysplasia 85.1 1
hormone deficiency 83.9 10
pituitary adenoma 80.8 47

Relevant External Links for POU1F1

Genetic Association Database (GAD)
POU1F1
Human Genome Epidemiology (HuGE) Navigator
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
  2. Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. (PMID: 16505001) Sun Y. … He L. (Hum. Mol. Genet. 2006) 3 23 48
  3. Cloning of the human cDNA for transcription factor Pit-1. (PMID: 1956794) Lew A.M. … Elsholtz H.P. (Nucleic Acids Res. 1991) 2 3 4
  4. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. (PMID: 1472057) Ohta K. … Matsuda I. (Biochem. Biophys. Res. Commun. 1992) 3 4 23
  5. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. (PMID: 1509262) Radovick S. … Wondisford F.E. (Science 1992) 3 4 23

Products for POU1F1 Gene

Sources for POU1F1 Gene

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