Free for academic non-profit institutions. Other users need a Commercial license

POU1F1 Gene(Protein Coding)

POU Class 1 Homeobox 1

GCID:
GC03M087259
GIFtS:
51
Genes Participants
UDN Logo

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
  • 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
  • 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 Isolated Growth Hormone Deficiency, Type Ii. Among its related pathways are Glucocorticoid receptor regulatory network. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is POU2F3.

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

Additional gene information for POU1F1 Gene

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

Genomics for POU1F1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for POU1F1 Gene

Promoters and enhancers for POU1F1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03I087276 Promoter 0.5 EPDnew 550.8 0.0 -17 0.1 POU1F1 KRT8P25
GH03I087226 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.2 +48.9 48886 2.6 HDGF PKNOX1 CLOCK ATF1 ARID4B SIN3A DMAP1 GLI4 ZNF48 YY1 CHMP2B MIR4795 POU1F1
GH03I087270 Enhancer 0.7 FANTOM5 Ensembl ENCODE 0.4 +5.0 5049 1.1 CHMP2B POU1F1
GH03I087317 Enhancer 0.6 dbSUPER 0.3 -43.6 -43586 5.1 SCRT1 PKNOX1 ZNF680 L3MBTL2 FEZF1 ZIC2 FOXA1 SP1 ZNF335 PRDM6 CHMP2B KRT8P25 POU1F1 GC03M087306
GH03I087309 Enhancer 0.2 dbSUPER 0.3 -33.5 -33450 0.9 CHMP2B KRT8P25 POU1F1 GC03M087306
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POU1F1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POU1F1 gene promoter:

Genomic Locations for POU1F1 Gene

Genomic Locations for POU1F1 Gene
chr3:87,259,404-87,276,587
(GRCh38/hg38)
Size:
17,184 bases
Orientation:
Minus strand
chr3:87,308,554-87,325,737
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for POU1F1 Gene

Proteins for POU1F1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for POU1F1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POU1F1 Gene

No Post-translational modifications

Other Protein References for POU1F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU1F1 Gene

Domains & Families for POU1F1 Gene

Gene Families for POU1F1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU1F1 Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the POU transcription factor family. Class-1 subfamily.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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).

Phenotypes From GWAS Catalog for POU1F1 Gene

Gene Ontology (GO) - Molecular Function for POU1F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 26612202
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001085 RNA polymerase II transcription factor binding IPI 26612202
GO:0001102 RNA polymerase II activating transcription factor binding IPI 9685346
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

Inhibitory RNA Products

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

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU1F1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for POU1F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 26612202
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with POU1F1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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 by RNA polymerase II IEA --
GO:0001708 cell fate specification IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 11301317
GO:0006366 transcription by RNA polymerase II TAS 1487156
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POU1F1 Gene

mRNA expression in normal human tissues for POU1F1 Gene
mRNA expression by GTEx for POU1F1 GenemRNA expression by BioGPS 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



Protein tissue co-expression partners for POU1F1 Gene

NURSA nuclear receptor signaling pathways regulating expression of POU1F1 Gene:

POU1F1

SOURCE GeneReport for Unigene cluster for POU1F1 Gene:

Hs.591654

Evidence on tissue expression from TISSUES for POU1F1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POU1F1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • breast
  • esophagus
  • heart
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with POU1F1: view

Primer 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 33 34
  • 99.47 (n)
cow
(Bos Taurus)
 Mammalia POU1F1 33
  • 91.41 (n)
PIT-1 34
  • 87 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pou1f1 33
  • 88.66 (n)
mouse
(Mus musculus)
 Mammalia Pou1f1 33 16 34
  • 87.74 (n)
dog
(Canis familiaris)
 Mammalia POU1F1 34 33
  • 86.94 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia POU1F1 34
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia POU1F1 34
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves POU1F1 33
  • 78.4 (n)
PIT-1 34
  • 74 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia POU1F1 34
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pou1f1 33
  • 74.87 (n)
zebrafish
(Danio rerio)
 Actinopterygii pou1f1 33 34
  • 66.45 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8148 33
worm
(Caenorhabditis elegans)
 Secernentea ceh-6 34
  • 29 (a)
 OneToOne
Species where no ortholog for POU1F1 was found in the sources mined by GeneCards:
  • 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

Paralogs for POU1F1 Gene

(19) SIMAP similar genes for POU1F1 Gene using alignment to 3 proteins:

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 Variation AA Info Type
rs104893754 pathogenic, Pituitary hormone deficiency, combined 1 87,262,161(-) G/A coding_sequence_variant, stop_gained
rs104893755 pathogenic, Pituitary hormone deficiency, combined 1, Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] 87,259,959(-) G/A coding_sequence_variant, missense_variant
rs104893756 pathogenic, Pituitary hormone deficiency, combined 1, Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] 87,262,203(-) C/G/T coding_sequence_variant, missense_variant
rs104893757 pathogenic, Pituitary hormone deficiency, combined 1, Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] 87,276,392(-) G/A coding_sequence_variant, missense_variant
rs104893758 pathogenic, Pituitary hormone deficiency, combined 1, Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] 87,262,098(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv3568885 CNV loss 25503493
esv3596885 CNV loss 21293372
nsv470749 CNV loss 18288195
nsv527279 CNV gain 19592680
nsv590918 CNV gain 21841781

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)

Additional Variant Information for POU1F1 Gene

Human Gene Mutation Database (HGMD)
POU1F1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU1F1

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

Disorders for POU1F1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for POU1F1 Gene - From: HGMD, OMIM, ClinVar, GTR, 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.

Additional Disease Information for POU1F1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JP … Dattani MT (The Journal of clinical endocrinology and metabolism 2005) 3 4 22 44 58
  2. Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. (PMID: 16505001) Sun Y … He L (Human molecular genetics 2006) 3 22 44 58
  3. Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. (PMID: 9485179) Brown MR … Hurley DL (Hormone research 1998) 3 4 22 58
  4. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. (PMID: 1509263) Pfäffle RW … Ingraham HA (Science (New York, N.Y.) 1992) 3 4 22 58
  5. Cloning of the human cDNA for transcription factor Pit-1. (PMID: 1956794) Lew AM … Elsholtz HP (Nucleic acids research 1991) 2 3 4 58

Products for POU1F1 Gene

Sources for POU1F1 Gene

Content
Loading form....