Aliases for POU1F1 Gene
Aliases for POU1F1 Gene
External Ids for POU1F1 Gene
- HGNC: 9210
- Entrez Gene: 5449
- Ensembl: ENSG00000064835
- OMIM: 173110
- UniProtKB: P28069
Previous HGNC Symbols for POU1F1 Gene
- PIT1
Previous GeneCards Identifiers for POU1F1 Gene
- GC03M087883
- GC03M090090
- GC03M087188
- GC03M087229
- GC03M087391
- GC03M087307
Summaries 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).
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
Enhancers for POU1F1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around POU1F1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 3p11.2 by Ensembl
- 3p11 by Entrez Gene
- 3p11.2 by HGNC
POU1F1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for POU1F1 Gene
Post-translational modifications for POU1F1 Gene
Other Protein References for POU1F1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for POU1F1
- Invitrogen Antibodies for POU1F1
- antibodies-online Antibodies for POU1F1: See all 12
- GeneTex POU1F1 antibody for POU1F1
-
Santa Cruz Biotechnology (SCBT) Antibodies for POU1F1
Protein Products
-
OriGene Purified Proteins for POU1F1
- Search Origene for MassSpec and Protein Over-expression Lysates for POU1F1
- Origene Custom Protein Services for POU1F1
- antibodies-online Proteins for POU1F1: See all 14
- Search antibodies-online for peptides
- Search GeneTex for Proteins for POU1F1
Assay Products
- antibodies-online Kits for POU1F1: See all 9
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for POU1F1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P28069UniProtKB/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.
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).
| 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 | -- |
Phenotypes for POU1F1 Gene
- MGI mutant phenotypes for POU1F1:
-
inferred from 2 alleles
- mortality/aging
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- immune system phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- skeleton phenotype
- pigmentation phenotype
- craniofacial phenotype
- hearing/vestibular/ear phenotype
- GenomeRNAi human phenotypes for POU1F1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
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-
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CRISPR Products
-
OriGene CRISPR knockouts for POU1F1
-
Santa Cruz Biotechnology (SCBT) CRISPR for POU1F1
- GenScript: Design CRISPR guide RNA sequences for POU1F1
Targeted motifs for POU1F1 Gene
HOMER Transcription Factor Regulatory Elements motif POU1F1
- Consensus sequence: ATGMATATDC Submotif: canonical Cell Type: GCrat GEO ID: GSE58009
miRNA Products
- Search ViGene Biosciences for POU1F1
Clone Products
- OriGene clones in human for POU1F1
- OriGene ORF clones in human,mouse,rat for POU1F1
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for POU1F1 gene
-
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-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
No data available for Gene Ontology (GO) - Cellular Components for POU1F1 Gene
Pathways & Interactions for POU1F1 Gene
More details on SuperPathways for POU1F1| Superpath | Contained pathways | |
|---|---|---|
| 1 | Glucocorticoid receptor regulatory network |
Pathways by source for POU1F1 Gene
1 BioSystems pathway for POU1F1 Gene
Interacting Proteins for POU1F1 Gene
Selected Interacting proteins:
P28069-PIT1_HUMAN
ENSP00000342931
for POU1F1 Gene via
MINT
STRING
I2D
| 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 | -- |
No data available for SIGNOR curated interactions for POU1F1 Gene
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
-
OriGene CRISPR knockouts for POU1F1
-
Santa Cruz Biotechnology (SCBT) CRISPR for POU1F1
- GenScript: Design CRISPR guide RNA sequences for POU1F1
miRNA Products
- Search ViGene Biosciences for POU1F1
Clone Products
- OriGene clones in human for POU1F1
- OriGene ORF clones in human,mouse,rat for POU1F1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for POU1F1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for POU1F1 Gene
This gene is overexpressed in Pituitary (x50.8).
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
Primer Products
-
OriGene qPCR primer pairs for POU1F1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | POU1F1 35 |
|
||
| PIT-1 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | POU1F1 35 |
|
||
| POU1F1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Pou1f1 35 |
|
||
| Pou1f1 16 |
|
||||
| Pou1f1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | POU1F1 35 |
|
||
| POU1F1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Pou1f1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POU1F1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POU1F1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POU1F1 35 |
|
||
| PIT-1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | POU1F1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pou1f1 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pou1f1 35 |
|
||
| pou1f1 36 |
|
OneToOne | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8148 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | ceh-6 36 |
|
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)
Paralogs for POU1F1 Gene
Paralogs for POU1F1 Gene
(19) SIMAP similar genes for POU1F1 Gene using alignment to 3 proteins:
Variants 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 |
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
- Human Gene Mutation Database (HGMD)
- POU1F1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU1F1 Gene
Disorders for POU1F1 Gene
(17) MalaCards diseases for POU1F1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pituitary hormone deficiency, combined, 1 |
|
|
| hypothyroidism due to deficient transcription factors involved in pituitary development or function |
|
|
| combined pituitary hormone deficiencies, genetic forms |
|
|
| pou1f1-related combined pituitary hormone deficiency |
|
|
| combined pituitary hormone deficiency |
|
|
Search POU1F1 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for POU1F1 Gene
Publications for POU1F1 Gene
- 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
- 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
- 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
- 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
- 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
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- antibodies-online Antibodies for POU1F1: See all 12
- antibodies-online Kits for POU1F1: See all 9
- antibodies-online Proteins for POU1F1: See all 14
- Search antibodies-online for peptides
- GeneTex POU1F1 antibody for POU1F1
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- ViGene Biosciences adenoviral particle packaged cDNA for POU1F1 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for POU1F1 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for POU1F1
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Sources for POU1F1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon