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POU3F1 Gene

protein-coding GIFtS: 53
GCID: GC01M038509

POU Class 3 Homeobox 1

(Previous names: POU domain class 3, transcription factor 1)
(Previous symbol: OTF6)

See POU3F1-related disease
at

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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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3.2

Aliases
POU Class 3 Homeobox 1¹ ²		POU Domain Transcription Factor SCIP² ³
OTF6¹ ² ³		POU Domain Class 3, Transcription Factor 1¹
Octamer-Binding Protein 6² ³		SCIP²
Octamer-Binding Transcription Factor 6² ³		POU Domain, Class 3, Transcription Factor 1²
OCT6² ³		Oct-6³
OTF-6² ³

External Ids:	HGNC: 9214¹	Entrez Gene: 5453²	Ensembl: ENSG00000185668⁷	OMIM: 602479⁵	UniProtKB: Q03052³

ORGUL members:	fRNAdb¹⁰:FR217284 FR044667 FR235515
	RNAdb¹⁵:EVF1924 EVF1926 EVF1925

Export aliases for POU3F1 gene to outside databases

Previous GC identifers: GC01M038434 GC01M037517 GC01M037973 GC01M037923 GC01M038179 GC01M038282 GC01M036628

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for POU3F1 Gene:

POU3F1 (POU class 3 homeobox 1) is a protein-coding gene. Diseases associated with POU3F1 include schizophrenia. GO annotations related to this gene include RNA polymerase II transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO3F1_HUMAN, Q03052

Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Thought to be involved in early

embryogenesis and neurogenesis

Gene Wiki entry for POU3F1 Gene

fRNAdb sequence ontology for POU3F1:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for POU3F1

(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_000001.10 NC_018912.2 NT_032977.10

Regulatory elements:

Regulatory transcription factor binding sites in the POU3F1 gene promoter:
NF-1/L NF-1 GATA-3 SREBP-1c SREBP-1b GATA-1 Egr-4 SREBP-1a HFH-1 Ik-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for POU3F1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU3F1

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

Entrez Gene cytogenetic band: 1p34.1 Ensembl cytogenetic band: 1p34.3 HGNC cytogenetic band: 1p34.3

POU3F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU3F1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M038509: view genomic region (about GC identifiers)

Start:	38,509,523 bp from pter	End:	38,512,450 bp from pter
Size:	2,928 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for POU3F1

(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, and/or antibodies-online,
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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UniProtKB/Swiss-Prot: PO3F1_HUMAN, Q03052 (See protein sequence)

Recommended Name: POU domain, class 3, transcription factor 1

Size: 451 amino acids; 45496 Da

Secondary accessions: Q5TAG2

Explore the universe of human proteins at neXtProt for POU3F1: NX_Q03052

Explore proteomics data for POU3F1 at MOPED

See POU3F1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002690.3

ENSEMBL proteins:

ENSP00000362103

POU3F1 Human Recombinant Protein Products:

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	antibodies-online peptides for POU3F1

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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):

IPR010982 Lambda_DNA-bd_dom

IPR016362 Transcription_factor_POU

IPR013847 POU

IPR000327 POU_specific

IPR017970 Homeobox_CS

Graphical View of Domain Structure for InterPro Entry Q03052

ProtoNet protein and cluster: Q03052

2 Blocks protein domains:

IPB000327 POU domain

IPB013847 POU

UniProtKB/Swiss-Prot: PO3F1_HUMAN, Q03052

Similarity: Belongs to the POU transcription factor family. Class-3 subfamily

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 1 POU-specific domain

Find genes that share domains with POU3F1 About GenesLikeMe

(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.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PO3F1_HUMAN, Q03052

Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Thought to be involved in early

embryogenesis and neurogenesis

Genatlas biochemistry entry for POU3F1:

POU domain,class 3,transcription factor 1

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001105	RNA polymerase II transcription coactivator activity	IEA	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IDA	9242494

Find genes that share ontologies with POU3F1 About GenesLikeMe

Phenotypes:
9 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Pou3f1):

behavior/neurological	growth/size/body	homeostasis/metabolism	integument	mortality/aging
nervous system	no phenotypic analysis	normal	respiratory system

Find genes that share phenotypes with POU3F1 About GenesLikeMe

Animal Models:
MGI mouse knock-outs for POU3F1: Pou3f1^tm2.1Mejr Pou3f1^tm2Mejr

genOway: Develop your customized and physiologically relevant rodent model for POU3F1

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In Situ Assay
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(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

PO3F1_HUMAN, Q03052: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005667	transcription factor complex	IEA	--

Find genes that share ontologies with POU3F1 About GenesLikeMe

(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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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for POU3F1
Interactions:

GeneGlobe Interaction Network for POU3F1

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

Selected Interacting proteins for POU3F1 (Q03052³ ENSP00000362103⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HMGA1	P17096³, ENSP00000308227⁴	I2D: score=2 STRING: ENSP00000308227
HMGB2	P26583³, ENSP00000296503⁴	I2D: score=1 STRING: ENSP00000296503
POU3F4	P49335³, ENSP00000362296⁴	I2D: score=2 STRING: ENSP00000362296
POU3F2	P20265³	I2D: score=1
POU3F3	P20264³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0008366	axon ensheathment	TAS	8662541
GO:0008544	epidermis development	--	--
GO:0010628	positive regulation of gene expression	ISS	--
GO:0014044	Schwann cell development	--	--

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(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

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Browse Tocris compounds for POU3F1 (PO3F1)

(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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3 fRNAdb Secondary structures:

REFSEQ mRNAs for POU3F1 gene:

NM_002699.3

Unigene Cluster for POU3F1:

POU class 3 homeobox 1

Hs.1837 [show with all ESTs]

Unigene Representative Sequence: NM_002699

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000373012(uc001ccp.1)

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Additional mRNA sequence:

L26494.1 S81257.1

3 DOTS entries:

DT.303774 DT.92417853 DT.100697072

14 AceView cDNA sequences:

CR611990 BE326578 H89079 AL583550 AI807330 BF438187 AL565480 L26494

NM_002699 AA341505 S81257 Z18284 BQ276805 BU960108

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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POU3F1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TAAATATGTG

About this image

POU3F1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 9) fully expand


Peripheral Nervous System (Nervous System) fully expand to see all 4 entries
Pro-myelinating Schwann Cells Peripheral Nerve Domain
Schwann cells
Schwann-like cells

Schwann Cells (Nervous System) fully expand to see all 2 entries
Schwann cells
Schwann-like cells

Brain (Nervous System) fully expand to see all 5 entries
Myelinating Oligodendrocyte Cells Forebrain White Matter
Cerebral Cortex
N2/LSB/S/F8-induced cells

Epiblast (Early Embryonic Tissues) fully expand to see all 2 entries
Epiblast Cells Epiblast
Epiblast-like cells

Thymus (Hematopoietic System)
Thymus

POU3F1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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POU3F1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.1837

UniProtKB/Swiss-Prot: PO3F1_HUMAN, Q03052

Tissue specificity: Expressed in embryonal stem cells and in the developing brain

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

Orthologs for POU3F1 gene from Selected species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pou3f1⁵	POU domain, class 3, transcription factor 1	--		4 (57.86 cM) 124656807
African clawed frog (Xenopus laevis)	Amphibia	pou1-A²	POU 1 transcription factor	76.91(n)		BC043847.1
zebrafish (Danio rerio)	Actinopterygii	pou3f1⁶	POU class 3 homeobox 1	69(a)	many ↔ many	16(35906777-35909646) ENSDARG00000009823
fruit fly (Drosophila melanogaster)	Insecta	vvl³	peripheral nervous system development DNA binding	83(a) (best of 3)		3 65C5 --

ENSEMBL Gene Tree for POU3F1 (if available)
TreeFam Gene Tree for POU3F1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for POU3F1 gene

POU5F2² POU6F2² POU4F2² POU2F3² POU3F4² POU1F1² POU3F3² POU4F3²

POU3F2² POU2F2² POU5F1B² POU4F1² POU2F1² POU6F1² POU5F1²

17 SIMAP similar genes for POU3F1 using alignment to 1 protein entry: PO3F1_HUMAN:

OCT6 POU2F1 POU6F1 POU1F1 OCT-2 POU4F1

POU2F3 POU3F4 POU4F3 POU2F2 POU3F2 POU3F3

POU5F1 POU5F1P4 POU5F1P1 POU4F2 POU5F1B

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(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	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189714035^1,2		--	38509090(+)	`TGAAAA/GTTGGG`	1	--	ds500¹		0	--	--	--	--
rs72930866^1,2	C	--	38509157(+)	`GGGCTG/TCTTTC`	1	--	ds500¹		1		WA	2
rs76165246^1,2		--	38509187(+)	`GAGTTA/GTGCAT`	1	--	ds500¹		0	--	--	--	--
rs115204983^1,2	F	--	38509273(+)	`TGTCTA/GCGACA`	1	--	ds500¹		1		NA	120
rs139272895^1,2		--	38509283(+)	`AGGGGA/GACACG`	1	--	ds500¹		0	--	--	--	--
rs200879858^1,2	C	--	38509576(+)	`CATTA-/TTTTTT`	1	--	ut3¹		0	--	--	--	--
rs41268251^1,2		--	38509676(+)	`AAACAC/GAAGAA`	1	--	ut3¹		0	--	--	--	--
rs28418984^1,2	C	--	38509884(+)	`ATCTCA/CCATAT`	1	--	ut3¹		2		NA	4
rs34860389^1,2	C	--	38510154(+)	`GCAGAA/GGCCCC`	1	--	ut3¹		4		NA WA EA	360
rs138024979^1,2		--	38510267(+)	`TGTTA-/GTTTTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for POU3F1 (38509523 - 38512450 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for POU3F1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv522	CNV	Insertion	18451855

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing POU3F1

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(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.)
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OMIM gene information: 602479OMIM information:
1 disease for POU3F1:
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schizophrenia

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1 Novoseek inferred disease relationship for POU3F1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
schizophrenia	6.76	2	16246257 (1), 15006499 (1)

Genetic Association Database (GAD): POU3F1

Export disorders for POU3F1 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 POU3F1 gene, integrated from 10 sources (see all 44):
(articles sorted by number of sources associating them with POU3F1)

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

The human Oct-6 POU transcription factor lacks the first 50 amino acids of its murine counterpart. (PubMed id 8451175)^{1, 2, 3} Tobler A.... Fontana A. (Nucleic Acids Res. 1993)
Oct-6: a regulator of keratinocyte gene expression in stratified squamous epithelia. (PubMed id 7909356)^{1, 2, 9} Faus I.... Fuchs E. (Mol. Cell. Biol. 1994)
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PubMed id 20453842)^{1, 4} Stahl E.A....Plenge R.M. (Nat. Genet. 2010)
Oct6, a transcription factor controlling myelination, is a marker for active nerve regeneration in peripheral neuropathies. (PubMed id 12557005)^{1, 9} Kawasaki T....Shibasaki H. (Acta Neuropathol. 2003)
Expression and activity of the POU transcription factor SCIP. (PubMed id 1975954)^{1, 9} Monuki E.S....Lemke G. (Science 1990)
Matrix metalloproteinase-19 expression in keratinocytes is repressed by transcription factors Tst-1 and Skn-1a: implications for keratinocyte differentiation. (PubMed id 17195013)^{1, 9} Beck I.M....Sedlacek R. (J. Invest. Dermatol. 2007)
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PubMed id 23192594)¹ Velez Edwards D.R....Edwards T.L. (Hum. Genet. 2013)
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)¹ Fox C.S....Borecki I.B. (PLoS Genet. 2012)
Aberrant CpG island hypermethylation and down-regulation of Oct-6 mRNA expression in human hepatocellular carcinoma. (PubMed id 21448695)¹ Sun J.Z....Li M. (Dig. Dis. Sci. 2011)
Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)⁴ Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5453	HGNC: 9214	AceView: POU3F1	Ensembl:ENSG00000185668	euGenes: HUgn5453
ECgene: POU3F1	H-InvDB: POU3F1

(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 POU3F1	Pharmacogenomics, SNPs, Pathways

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