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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POU1F1 Gene

protein-coding GIFtS: 58
GCID: GC03M087307

POU Class 1 Homeobox 1

(Previous names: POU domain class 1, transcription factor 1)
(Previous symbol: PIT1)

43 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
POU Class 1 Homeobox 1¹ ²		Pit-1²
PIT1¹ ² ³ ⁵		Pituitary-Specific Positive Transcription Factor 1²
Growth Hormone Factor 1¹ ² ³		Pituitary-Specific Transcription Factor 1²
GHF-1² ³		POU Domain, Class 1, Transcription Factor 1²
CPHD1² ⁵		GHF1³
POU Domain Class 1, Transcription Factor 1¹		PIT-1³
POU1F1a²

External Ids:	HGNC: 9210¹	Entrez Gene: 5449²	Ensembl: ENSG00000064835⁷	OMIM: 173110⁵	UniProtKB: P28069³

Export aliases for POU1F1 gene to outside databases

Previous GC identifers: GC03M087883 GC03M090090 GC03M087188 GC03M087229 GC03M087391

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069

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 Wiki entry for POU1F1 (Pituitary-specific positive transcription factor 1) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.2 NT_022459.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the POU1F1 gene promoter:
Pax-5 p53 AP-1 ATF-2 CREB deltaCREB c-Jun Ik-1 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POU1F1 promoter sequence

Search SABiosciences Chromatin IP Primers for POU1F1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POU1F1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p11 Ensembl cytogenetic band: 3p11.2 HGNC cytogenetic band: 3p11.2

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

GeneLoc information about chromosome 3 GeneLoc Exon Structure

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

Start:	87,308,554 bp from pter	End:	87,325,737 bp from pter
Size:	17,184 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069 (See protein sequence)

Recommended Name: Pituitary-specific positive transcription factor 1

Size: 291 amino acids; 32912 Da

Subcellular location: Nucleus

Sequence caution: Sequence=CAA54440.2; Type=Erroneous gene model prediction;

Secondary accessions: O75757 Q15132 Q15133 Q9UD34 Q9UEL3

Alternative splicing: 2 isoforms: P28069-1 P28069-2 (Altered in its ability to trans-activate compared to isoform B)

Explore the universe of human proteins at neXtProt for POU1F1: NX_P28069

Explore proteomics data for POU1F1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P28069

POU1F1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_000297.1 NP_001116229.1

ENSEMBL proteins:

ENSP00000263781 ENSP00000342931 ENSP00000454072 ENSP00000452610

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	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

POU1F1 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

POU: Homeoboxes / POU class

5/7 InterPro protein domains (see all 7):

IPR015586 Pit_1

IPR010982 Lambda_DNA-bd_dom

IPR013847 POU

IPR000327 POU_specific

IPR017970 Homeobox_CS

Graphical View of Domain Structure for InterPro Entry P28069

ProtoNet protein and cluster: P28069

2 Blocks protein domains:

IPB000327 POU domain

IPB013847 POU

UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069

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

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 1 POU-specific domain

POU1F1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PIT1_HUMAN, P28069

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'

Genatlas biochemistry entry for POU1F1:

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

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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	--	--
GO:0003682	chromatin binding	IEA	--

POU1F1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for POU1F1:

Decreased p24 protein expressi

9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pou1f1):

craniofacial	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	mortality/aging	nervous system	reproductive system

POU1F1 for phenotypes About GeneDecksing

Animal Models:

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genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POU1F1

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU1F1

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for POU1F1 About

See pathways by source

SuperPath

Contained pathways About

Glucocorticoid receptor regulatory network

Glucocorticoid receptor regulatory network

1 BioSystems Pathway for POU1F1

Glucocorticoid receptor regulatory network

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for POU1F1

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/17 Interacting proteins for POU1F1 (P28069^{2, 3} ENSP00000342931⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ETS1	P14921²^,³, ENSP00000376436⁴	MINT-14055 I2D: score=1 STRING: ENSP00000376436
JUN	P05412³, ENSP00000360266⁴	I2D: score=2 STRING: ENSP00000360266
NR3C1	P04150³, ENSP00000231509⁴	I2D: score=2 STRING: ENSP00000231509
MED1	Q15648³, ENSP00000300651⁴	I2D: score=1 STRING: ENSP00000300651
NR1I3	Q14994³, ENSP00000356959⁴	I2D: score=1 STRING: ENSP00000356959

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

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-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	1487156
GO:0008284	positive regulation of cell proliferation	IEA	--

POU1F1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

POU1F1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for POU1F1 (PIT1)

10/28 Novoseek inferred chemical compound relationships for POU1F1 gene (see all 28) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ptx1	83.5	8	9514159 (2), 10859489 (2), 18079591 (1), 11027489 (1) (see all 5)
acth	59.9	17	8890999 (3), 8739890 (3), 8949563 (2), 12780757 (1) (see all 10)
forskolin	43	18	8625901 (4), 7961740 (3), 16879162 (1), 1584227 (1) (see all 5)
bromocriptine	42.6	2	7621575 (1), 9207961 (1)
ribonucleic acid	40.1	7	7608249 (2), 8869065 (2), 8733768 (1), 8784102 (1) (see all 5)
cyclic amp	33.7	21	8645191 (4), 8625901 (2), 9751061 (2), 8524234 (2) (see all 7)
estrogen	20.9	18	15221415 (3), 2379827 (2), 8733768 (1), 8424109 (1) (see all 12)
dopamine	13.1	9	7706253 (3), 1835974 (3), 9167960 (1), 10449917 (1)
okadaic acid	12.8	6	9717847 (3), 8232316 (1), 11266513 (1)
arginine	12	4	9588494 (1), 12773133 (1), 9829213 (1)

Search CenterWatch for drugs/clinical trials and news about POU1F1 / PIT1

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for POU1F1 gene (2 alternative transcripts):

NM_000306.2 NM_001122757.1

Unigene Cluster for POU1F1:

POU class 1 homeobox 1

Hs.591654 [show with all ESTs]

Unigene Representative Sequence: NM_001122757

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000350375(uc010hoj.1 uc003dqq.1) ENST00000344265 ENST00000561167

ENST00000560656

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Additional mRNA sequence:

D10216.1 L18781.1 X62429.1 X72215.1

2 DOTS entries:

DT.206672 DT.91910385

8 AceView cDNA sequences:

D10216 NM_000306 L18781 X72215 X62429 CD242816 CD237360 AV747622

GeneLoc Exon Structure

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

See POU1F1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POU1F1

SOURCE GeneReport for Unigene cluster: Hs.591654

SABiosciences Expression via Pathway-Focused PCR Arrays including POU1F1:

cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

Neurotoxicity in human mouse rat

Homeobox (HOX) Genes in human mouse rat

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for POU1F1 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pou1f1^{1 , 5}	POU domain, class 1, transcription factor 1^{1, 5}	87.74(n)¹ 95.53(a)¹		16 (37.25 cM)⁵ 18736¹ NM_008849.4¹ NP_032875.1¹ 65520512⁵
chicken (Gallus gallus)	Aves	POU1F1¹	POU class 1 homeobox 1	78.4(n) 86.67(a)		374215 NM_204319.1 NP_989650.1
lizard (Anolis carolinensis)	Reptilia	POU1F1⁶	Uncharacterized protein	71(a)	1 ↔ 1	3(161399902-161417222)
zebrafish (Danio rerio)	Actinopterygii	pou1f1¹	POU domain, class 1, transcription factor 1	66.45(n) 71.85(a)		405777 NM_212851.1 NP_998016.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for POU1F1 gene

POU5F2² POU6F2² POU4F2² POU2F3² POU3F1² POU3F4² POU3F3² POU4F3²

POU3F2² POU2F2² POU5F1B² POU4F1² POU2F1² POU6F1² POU5F1²

18/19 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 POU2F3 POU2F1 POU2F2

POU5F1P1 POU3F2 POU5F1B POU4F2 POU4F3 NKX2-5

POU1F1 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 173110
OMIM disorders: 613038
UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069

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 adrenocorticotrophic 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

20/43 diseases for POU1F1 (see all 43): About MalaCards

pituitary hormone deficiency, combined 1 hypothyroidism due to deficient transcription factors involved in pituitary development or function pou1f1-related combined pituitary hormone deficiency combined pituitary hormone deficiency

septo-optic dysplasia pancreatic islet cell tumors pituitary hypoplasia prolactinoma

glycogen storage disease iv axenfeld-rieger syndrome hypopituitarism growth hormone deficiency

borjeson-forssman-lehmann syndrome acth deficiency panhypopituitarism dwarfism

islet cell tumor isolated growth hormone deficiency congenital hypothyroidism blastoma

4 diseases from the University of Copenhagen DISEASES database for POU1F1:

Hypopituitarism Pituitary hypoplasia Holoprosencephaly Hypothyroidism

POU1F1 for disorders About GeneDecksing

10/29 Novoseek inferred disease relationships for POU1F1 gene (see all 29) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
panhypopituitarism	95.5	73	9632165 (2), 16263824 (2), 1472057 (2), 10698595 (2) (see all 56)
tsh deficiency	91.6	14	9632165 (3), 16735499 (2), 18174732 (2), 9626142 (1) (see all 10)
septo-optic dysplasia	85.1	1	15670191 (1)
hormone deficiency	83.9	10	7920987 (2), 15844473 (1), 11222742 (1), 19407506 (1) (see all 9)
pituitary adenoma	80.8	58	8834538 (4), 8148036 (4), 8246449 (3), 11081207 (3) (see all 26)
hypopituitarism	79.4	9	1509263 (2), 18157385 (1), 10549299 (1), 9686002 (1) (see all 7)
dwarfism pituitary	74	1	7920987 (1)
acth deficiency	70.5	3	12780757 (1), 17162714 (1), 15928241 (1)
pituitary tumors	70.2	10	11081157 (2), 16189248 (2), 8027225 (1), 10404841 (1) (see all 6)
prolactin deficiency	67.8	1	9627600 (1)

Genetic Association Database (GAD): POU1F1
Human Genome Epidemiology (HuGE) Navigator: POU1F1 (14 documents)

Export disorders for POU1F1 gene to outside databases

(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)
About This Section

PubMed articles for POU1F1 gene, integrated from 9 sources (see all 357):
(articles sorted by number of sources associating them with POU1F1)

Utopia: connect your pdf to the dynamic
world of online information

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (PubMed id 15928241)^{1, 2, 4, 9} Turton J.P....Dattani M.T. (2005)
Cloning of the human cDNA for transcription factor Pit-1. (PubMed id 1956794)^{1, 2, 3} Lew A.M. and Elsholtz H.P. (1991)
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. (2006)
Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. (PubMed id 9485179)^{1, 2, 9} Brown M.R.... Hurley D.L. (1998)
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. (PubMed id 1472057)^{1, 2, 9} Ohta K.... Matsuda I. (1992)
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. (2005)
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. (2001)
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. (1998)
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. (1996)
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. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5449	HGNC: 9210	AceView: POU1F1	Ensembl:ENSG00000064835	euGenes: HUgn5449
ECgene: POU1F1	H-InvDB: POU1F1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for POU1F1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POU1F1

Intellectual Property for POU1F1 gene
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POU1F1 Gene

POU Class 1 Homeobox 1

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Hypoplasia
growth hormone deficiency
EMPTY SELLA
Hyperplasia
Adenoma
Pituitary Tumors
PITUITARY ADENOMA
Congenital hypothyroidism
Prolactinoma
ACTH DEFICIENCY
Dwarfism Pituitary
SHORT STATURE
Carcinoma
Hypothyroidism
TSH DEFICIENCY
Atrophy
Septo-Optic Dysplasia
hormone deficiency
Breast Cancer
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Panhypopituitarism
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POU1F1 Gene

POU Class 1 Homeobox 1

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