POU1F1 Gene

Aliases
for POU1F1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC03M087883 GC03M090090 GC03M087188 GC03M087229 GC03M087391

Summaries
for POU1F1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for POU1F1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000003.11  NC_018914.2  NT_022517.19  

SwitchGear Promoter luciferase reporter plasmid: POU1F1 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU1F1

POU1F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M087307:  view genomic region     (about GC identifiers)

Proteins
for POU1F1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for POU1F1: NX_P28069

Explore proteomics data for POU1F1 at MOPED

Post-translational modifications: 

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	antibodies-online peptides for POU1F1

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Domains /
Families
for POU1F1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P28069

Find genes that share domains with POU1F1           About GenesLikeMe

Function
for POU1F1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

(inferred from 2 alleles) (MGI details for Pou1f1)

genOway: Develop your customized and physiologically relevant rodent model for POU1F1

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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU1F1

Localization
for POU1F1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
cytosol	3

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Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for POU1F1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for POU1F1 About     See pathways by source

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	SuperPath	Contained pathways About
1	Glucocorticoid receptor regulatory network	Glucocorticoid receptor regulatory network

1 BioSystems Pathway for POU1F1

Glucocorticoid receptor regulatory network

Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

Drugs & Compounds
for POU1F1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for POU1F1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for POU1F1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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POU1F1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CAAACTGAAA

About this image

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU1F1

Orthologs
for POU1F1 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for POU1F1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for POU1F1 gene

POU5F2²  POU6F2²  POU4F2²  POU2F3²  POU3F1²  POU3F4²  POU3F3²  POU4F3²  

POU3F2²  POU2F2²  POU5F1B²  POU4F1²  POU2F1²  POU6F1²  POU5F1²  

Selected SIMAP similar genes for POU1F1 using alignment to 3 protein entries:     PIT1_HUMAN (see all proteins) (see all similar genes):

OCT6    POU6F1    POU5F1P4    POU3F1    POU3F4    POU4F1

OCT-2    POU3F3    POU5F1    POU2F1    POU2F2    POU5F1P1

POU3F2    POU2F3    POU5F1B    POU4F2    POU4F3    NKX2-5

Find genes that share paralogs with POU1F1           About GenesLikeMe

Genomic Variants
for POU1F1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for POU1F1 (see all 468)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0037784		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_003778	2	R Q	mis4		0	--	--	--	--
VAR_0634254		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_063425	2	R Q	mis4		0	--	--	--	--
VAR_0105744		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_010574	2	F C	mis4		0	--	--	--	--
VAR_0152604		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_015260	2	W R	mis4		0	--	--	--	--
VAR_0037774		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_003777	2	P L	mis4		0	--	--	--	--
VAR_0105764		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_010576	2	P S	mis4		0	--	--	--	--
VAR_0037814		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_003781	2	R W	mis4		0	--	--	--	--
VAR_0634274		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_063427	2	E K	mis4		0	--	--	--	--
VAR_0105754		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_010575	2	E G	mis4		0	--	--	--	--
VAR_0037794		Pituitary hormone deficiency, combined, 1 (CPHD1)4	--	see VAR_003779	2	A P	mis4		0	--	--	--	--

HapMap Linkage Disequilibrium report for POU1F1 (87308554 - 87325737 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for POU1F1:    About this table    

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

Human Gene Mutation Database (HGMD): POU1F1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing POU1F1

DNA2.0 Custom Variant and Variant Library Synthesis for POU1F1

Disorders / Diseases
for POU1F1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The disease is caused by mutations affecting the gene

represented in this entry

18 diseases for POU1F1:    
About MalaCards

Selected Novoseek inferred disease relationships for POU1F1 gene (see all 29)    About this table

Publications
for POU1F1 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (PubMed id 15928241)^{1, 2, 4, 9} Turton J.P.G.... Dattani M.T. (J. Clin. Endocrinol. Metab. 2005)
2. Cloning of the human cDNA for transcription factor Pit-1. (PubMed id 1956794)^{1, 2, 3} Lew A.M. and Elsholtz H.P. (Nucleic Acids Res. 1991)
3. Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. (PubMed id 16505001)^{1, 4, 9} Sun Y....He L. (Hum. Mol. Genet. 2006)
4. Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. (PubMed id 9485179)^{1, 2, 9} Brown M.R.... Hurley D.L. (Horm. Res. 1998)
5. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. (PubMed id 1472057)^{1, 2, 9} Ohta K.... Matsuda I. (Biochem. Biophys. Res. Commun. 1992)
6. Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. (PubMed id 16214911)^{1, 4, 9} Canzian F....Kaaks R. (amp 2005)
7. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the PIT1/POU1F1 gene. (PubMed id 11297581)^{1, 2, 9} Hendriks-Stegeman B.I.... Jansen M. (J. Clin. Endocrinol. Metab. 2001)
8. 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)^{1, 2, 9} Pernasetti F.M.... Martial J.A. (J. Clin. Endocrinol. Metab. 1998)
9. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. (PubMed id 8768831)^{1, 2, 9} Pellegrini-Bouiller I.... Enjalbert A. (J. Clin. Endocrinol. Metab. 1996)
10. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. (PubMed id 1509262)^{1, 2, 9} Radovick S....Wondisford F.E. (Science 1992)

External Searches for POU1F1 gene

Genome Databases showing POU1F1 gene

Other Databases showing POU1F1 gene

Specialized Databases showing POU1F1 gene

Products
for POU1F1 gene

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Advanced Cell Diagnostics, Animal models from genOway)
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