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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)

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(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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Aliases
POU Class 1 Homeobox 1¹ ²		POU1F1a²
PIT1¹ ² ³ ⁵		Pit-1²
Growth Hormone Factor 1¹ ² ³		Pituitary-Specific Positive 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

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000003.12 NC_018914.2 NT_022517.19

Regulatory elements:

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 Chromatin IP Primers for POU1F1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069 (See protein sequence)

Recommended Name: Pituitary-specific positive transcription factor 1

Size: 291 amino acids; 32912 Da

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See POU1F1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_000297.1 NP_001116229.1

ENSEMBL proteins:

ENSP00000263781 ENSP00000342931 ENSP00000454072 ENSP00000452610

POU1F1 Human Recombinant Protein Products:

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POU1F1 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

POU: Homeoboxes / POU class

Selected 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): Selected molecular function terms (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

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

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

POU1F1 for phenotypes About GeneDecksing

Animal Models:

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		1 qRT-PCR Assays for microRNA that regulate POU1F1:
		hsa-miR-4251
		SwitchGear 3'UTR luciferase reporter plasmid: POU1F1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for POU1F1
		Predesigned siRNA for gene silencing in human, mouse, rat POU1F1

Gene Editing
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DNA2.0 Custom Protein Engineering Service for POU1F1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU1F1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PIT1_HUMAN, P28069: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	3

About this image

Gene Ontology (GO): 3 cellular component terms: 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

(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 GeneDecks, 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).
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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

Pathway & Disease-focused RT² Profiler PCR Arrays including POU1F1:

cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

Neurotoxicity in human mouse rat

Homeobox (HOX) Genes in human mouse rat

Interactions:

GeneGlobe Interaction Network for POU1F1

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

Selected 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

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Gene Ontology (GO): Selected biological process terms (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-templated	--	--
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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for POU1F1 (PIT1)

Selected 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)

POU1F1 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for POU1F1 gene (2 alternative transcripts):

NM_000306.3 NM_001122757.2

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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		1 qRT-PCR Assays for microRNA that regulate POU1F1:
		hsa-miR-4251
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		QuantiFast Probe-based Assays in human, mouse, rat POU1F1

Additional mRNA sequence:

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

2 DOTS entries:

DT.206672 DT.91910385

8 AceView cDNA sequences:

NM_000306 D10216 L18781 X72215 CD242816 CD237360 X62429 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™, 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

POU1F1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

POU1F1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.591654

Pathway & Disease-focused RT² Profiler PCR Arrays including POU1F1:

cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

Neurotoxicity in human mouse rat

Homeobox (HOX) Genes in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for POU1F1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat POU1F1
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU1F1

(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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This gene was present in the common ancestor of animals.

Orthologs for POU1F1 gene from Selected species (see all 13) 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	POU class 1 homeobox 1	71(a)	1 ↔ 1	3(161399902-161417222)
tropical clawed frog (Xenopus tropicalis)	Amphibia	pou1f1¹	POU class 1 homeobox 1	74.87(n) 78.86(a)		100492413 XM_002931760.2 XP_002931806.1
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
worm (Caenorhabditis elegans)	Secernentea	ceh-6⁶	Protein CEH-6 (ceh-6) mRNA, complete cds	29(a)	1 ↔ 1	I(8498114-8502412) WBGene00000431

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)
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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

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), 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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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

Site Specific Mutation Identification with PCR Assays

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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.)
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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 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

Selected diseases for POU1F1 (see all 44):
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

pituitary hypoplasia septo-optic dysplasia pancreatic islet cell tumors axenfeld-rieger syndrome

hypopituitarism fainting prolactinoma panhypopituitarism

borjeson-forssman-lehmann syndrome dwarfism acth deficiency islet cell tumor

growth hormone deficiency isolated growth hormone deficiency blastoma congenital hypothyroidism

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

Hypopituitarism Pituitary hypoplasia Holoprosencephaly Hypothyroidism

POU1F1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

Selected 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)
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PubMed articles for POU1F1 gene, integrated from 10 sources (see all 358):
(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.G.... Dattani M.T. (J. Clin. Endocrinol. Metab. 2005)
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)
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)
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)
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)
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)
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)
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)
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)
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)

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

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for POU1F1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POU1F1[genesymbol]

Intellectual Property for POU1F1 gene
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Patent Information for POU1F1 gene:
Search GeneIP for patents involving POU1F1

GeneCards and IP:
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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
Dwarfism
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Adenocarcinoma
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POU1F1 Gene

POU Class 1 Homeobox 1

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