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POU6F1 Gene

protein-coding GIFtS: 56
GCID: GC12M051580

POU Class 6 Homeobox 1

(Previous names: POU domain, class 6, transcription factor 1)

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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 6 Homeobox 1¹ ²		MPOU Homeobox Protein² ³
POU Domain, Class 6, Transcription Factor 1¹ ²		brain-5²
Brain-Specific Homeobox/POU Domain Protein 5² ³		brn-5²
BRN5² ³		Brain-5³
MPOU² ³		Brn-5³
TCFB1² ³

External Ids:	HGNC: 9224¹	Entrez Gene: 5463²	Ensembl: ENSG00000184271⁷	UniProtKB: Q14863³

Export aliases for POU6F1 gene to outside databases

Previous GC identifers: GC12U990075 GC12M051299 GC12M049869 GC12M048613

(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 POU6F1 Gene:

POU6F1 (POU class 6 homeobox 1) is a protein-coding gene. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO6F1_HUMAN, Q14863

Function: Transcription factor that binds preferentially to a variant of the octamer motif (5'-ATGATAAT-3') (By

similarity)

(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_000012.11 NC_018923.2 NT_029419.13

Regulatory elements:

Regulatory transcription factor binding sites in the POU6F1 gene promoter:
E2F-4 E2F-3a E2F-5 Nkx2-5 E2F-2 CREB E2F E2F-1 deltaCREB c-Myb
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): POU6F1 promoter sequence

Search Chromatin IP Primers for POU6F1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU6F1

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

Entrez Gene cytogenetic band: 12q13.13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.13

POU6F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU6F1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M051580: view genomic region (about GC identifiers)

Start:	51,580,719 bp from pter	End:	51,611,477 bp from pter
Size:	30,759 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, 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: PO6F1_HUMAN, Q14863 (See protein sequence)

Recommended Name: POU domain, class 6, transcription factor 1

Size: 301 amino acids; 32645 Da

1 PDB 3D structure from and Proteopedia for POU6F1:

3D1N (3D)

Secondary accessions: Q15944 Q6DK47 Q7Z7P6

Explore the universe of human proteins at neXtProt for POU6F1: NX_Q14863

Explore proteomics data for POU6F1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See POU6F1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002693.3

ENSEMBL proteins:

ENSP00000373895 ENSP00000330190 ENSP00000448389 ENSP00000448266

POU6F1 Human Recombinant Protein 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

5 InterPro protein domains:

IPR010982 Lambda_DNA-bd_dom

IPR013847 POU

IPR000327 POU_specific

IPR001356 Homeobox_dom

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q14863

ProtoNet protein and cluster: Q14863

2 Blocks protein domains:

IPB000327 POU domain

IPB013847 POU

UniProtKB/Swiss-Prot: PO6F1_HUMAN, Q14863

Similarity: Belongs to the POU transcription factor family. Class-6 subfamily

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 1 POU-specific domain

Find genes that share domains with POU6F1 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: PO6F1_HUMAN, Q14863

Function: Transcription factor that binds preferentially to a variant of the octamer motif (5'-ATGATAAT-3') (By

POU domain,class 6,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

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

Find genes that share ontologies with POU6F1 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for POU6F1:

Increased gamma-H2AX phosphory

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for POU6F1

miRNA Products:		miRTarBase miRNAs that target POU6F1: hsa-mir-335-5p (MIRT018056)

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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

PO6F1_HUMAN, Q14863: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0031965	nuclear membrane	--	--
GO:0043231	intracellular membrane-bounded organelle	--	--

Find genes that share ontologies with POU6F1 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 POU6F1
Interactions:

Search GeneGlobe Interaction Network for POU6F1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

Selected Interacting proteins for POU6F1 (Q14863³ ENSP00000330190⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
POU4F2	Q12837³, ENSP00000281321⁴	I2D: score=1 STRING: ENSP00000281321
STAT3	P40763³, ENSP00000264657⁴	I2D: score=1 STRING: ENSP00000264657
HOXD12	P35452³	I2D: score=1
POU6F2	P78424³	I2D: score=1
STAT2	ENSP00000315768⁴	STRING: ENSP00000315768

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Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-templated	IEA	--
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0007420	brain development	TAS	7908264
GO:0007507	heart development	TAS	7908264
GO:0007517	muscle organ development	TAS	7908264

Find genes that share ontologies with POU6F1 About GenesLikeMe

(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

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Browse Tocris compounds for POU6F1 (PO6F1)

(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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REFSEQ mRNAs for POU6F1 gene:

NM_002702.3

Unigene Cluster for POU6F1:

POU class 6 homeobox 1

Hs.555886 [show with all ESTs]

Unigene Representative Sequence: NR_026893

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

ENST00000389243(uc001rxy.3 uc001rxz.3 uc001rya.3) ENST00000333640

ENST00000550824 ENST00000552305 ENST00000547855 ENST00000549309 ENST00000546685

ENST00000548692 ENST00000547854

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		QuantiFast Probe-based Assays in human, mouse, rat POU6F1

Additional mRNA sequence:

AL832881.1 BC051326.1 BC074765.2 BC107090.1 L14482.1 NR_026893.1 Z21966.1

11 DOTS entries:

DT.211139 DT.100019233 DT.92416809 DT.100719359 DT.121124774 DT.411233 DT.86852017 DT.100804567

DT.65284314 DT.95231668 DT.40200606

Selected AceView cDNA sequences (see all 36):

AF268617 AA205845 CA503120 BV199669 BG569724 BV207798 Z21964 BV207801

AU123692 AA196616 BM857157 BQ278003 AA176079 CD048028 CD048171 BV174940

AW438879 AA232432 CD247215 CD049202 BM830060 CD247950 AA216545 CD248298

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for POU6F1 (see all 6) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11a	·	11b
SP1:													-						-
SP2:																			-
SP3:
SP4:			-										-
SP5:							-

ECgene alternative splicing isoforms for POU6F1

(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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POU6F1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGGAAGGAA

About this image

POU6F1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Brain (Nervous System) fully expand to see all 7 entries
ganglion/cranial/facial VII

Neural Tube (Nervous System)
Primitive Spinal Cord

Spinal Cord (Nervous System)

POU6F1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

POU6F1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.555886

UniProtKB/Swiss-Prot: PO6F1_HUMAN, Q14863

Tissue specificity: In the embryo, expressed exclusively in the developing brain, whereas in the adult its

expression is restricted to brain, heart, skeletal muscle and lung. In the brain, the highest expression levels

are found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU6F1

(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 chordates.

Orthologs for POU6F1 gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pou6f1^{1 , 5}	POU domain, class 6, transcription factor 1^{1, 5}	87.82(n)¹ 95.35(a)¹		15 (56.35 cM)⁵ 19009¹ NM_010127.3¹ NP_034257.1¹ 100575318⁵
lizard (Anolis carolinensis)	Reptilia	POU6F1⁶	POU class 6 homeobox 1	47(a)	1 ↔ 1	2(67512138-67531505)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13006²	Transcribed sequence with strong similarity to protein more	80(n)		BX724095.1
zebrafish (Danio rerio)	Actinopterygii	pouc²	POU domain gene C	73.53(n)		30334 NM_131113.1

ENSEMBL Gene Tree for POU6F1 (if available)
TreeFam Gene Tree for POU6F1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for POU6F1 gene

POU5F2² POU6F2² POU4F2² POU2F3² POU3F1² POU3F4² POU1F1² POU3F3²

POU4F3² POU3F2² POU2F2² POU5F1B² POU4F1² POU2F1² POU5F1²

Selected SIMAP similar genes for POU6F1 using alignment to 3 protein entries: PO6F1_HUMAN (see all proteins) (see all similar genes):

POU6F2 POU4F3 POU2F3 POU3F2 OCT6 POU3F1

OCT-2 POU3F3 POU4F2 POU1F1 POU4F1 POU2F1

POU5F1B POU5F1P4 POU3F4 LHX9 EN2 GSC

Find genes that share paralogs with POU6F1 About GenesLikeMe

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192215246^1,2		--	48626932(+)	`TGTAAA/GGACTG`	1	--	us2k¹		0	--	--	--	--
rs10783418^1,2	C,F,A,H	--	51580219(+)	`GCTCTT/CATCAG`	2	--	ds500¹		23		NS EA NA WA CSA	2342
rs143026884^1,2	C	--	51580225(+)	`ATCAGA/GCATCG`	2	--	ds500¹		0	--	--	--	--
rs191341526^1,2		--	51580308(+)	`AGGCAC/TTGAGT`	2	--	ds500¹		0	--	--	--	--
rs116535830^1,2	C,F	--	51580459(+)	`CTAGGT/CATAAG`	2	--	ds500¹		1		WA	118
rs182633014^1,2		--	51580468(+)	`AGAAGC/GGTGTT`	2	--	ds500¹		0	--	--	--	--
rs148195260^1,2		--	51580618(+)	`TTTTCC/TAGGCT`	2	--	ds500¹		0	--	--	--	--
rs11169752^1,2	C,F,A,H	--	51580707(+)	`GGAAAC/AAAGCA`	2	--	ds500¹		19		NS EA NA CSA WA	2344
rs141188998^1,2	C	--	51580732(+)	`AAAAAA/TTACTG`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs76928355^1,2	C,F	--	51580947(+)	`AACTCG/ATGTGT`	2	--	ut3¹ nc-transcript-variant		1		WA	118

HapMap Linkage Disequilibrium report for POU6F1 (51580719 - 51611477 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for POU6F1 (see all 11): About this table

Variant ID	Type	Subtype	PubMed ID
esv2677962	CNV	Deletion	23128226
esv2745877	CNV	Deletion	23290073
esv2745881	CNV	Deletion	23290073
esv2239902	CNV	Deletion	18987734
esv2745878	CNV	Deletion	23290073
esv2745880	CNV	Deletion	23290073
esv2745879	CNV	Deletion	23290073
esv2745882	CNV	Deletion	23290073
nsv704	CNV	Insertion	18451855
esv1696566	CNV	Insertion	17803354

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing POU6F1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 inferred disease relationship from the University of Copenhagen DISEASES database for POU6F1:

Clear cell adenocarcinoma

Find genes that share disorders with POU6F1 About GenesLikeMe

Export disorders for POU6F1 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 POU6F1 gene, integrated from 10 sources (see all 17):
(articles sorted by number of sources associating them with POU6F1)

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A human POU domain gene, mPOU, is expressed in developing brain and specific adult tissues. (PubMed id 7908264)^{1, 2, 3, 9} Wey E.... Schaefer B.W. (Eur. J. Biochem. 1994)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
A novel POU domain protein which binds to the T-cell receptor beta enhancer. (PubMed id 8102789)^{1, 2} Messier H.... Fotedar A. (Mol. Cell. Biol. 1993)
Structure of human Brn-5 transcription factor in complex with CRH gene promoter. (PubMed id 19450691)^{1, 9} Pereira J.H. and Kim S.H. (J. Struct. Biol. 2009)
Crystallization and preliminary X-ray analysis of human Brn-5 transcription factor in complex with DNA. (PubMed id 18323601)^{1, 9} Pereira J.H....Kim S.H. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2008)
Transcription factor POU6F1 is important for proliferation of clear cell adenocarcinoma of the ovary and is a potential new molecular target. (PubMed id 20134265)¹ Suzuki N....Ishizuka B. (Int. J. Gynecol. Cancer 2010)
POU6F1 is the transcription factor that might be involved in cell proliferation of clear cell adenocarcinoma of the ovary. (PubMed id 19874398)¹ Yoshioka N....Ishizuka B. (Hum. Cell 2009)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (amp 2008)
Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)¹ Zhou H....Espeseth A.S. (amp 2008)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (Genome Res. 2006)

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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: 5463	HGNC: 9224	AceView: LOC441628	Ensembl:ENSG00000184271	euGenes: HUgn5463
ECgene: POU6F1	H-InvDB: POU6F1

(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 POU6F1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for POU6F1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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POU Class 6 Homeobox 1

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POU6F1 Gene

POU Class 6 Homeobox 1

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