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POU5F1B Gene

protein-coding GIFtS: 44
GCID: GC08P128426

POU Class 5 Homeobox 1B

(Previous names: POU domain class 5, transcription factor 1 pseudogene 1,...)
(Previous symbols: OTF3P1, POU5F1P1)

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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)
About This Section

Aliases
POU Class 5 Homeobox 1B¹ ²		POU5F1P4²
OTF3P1¹ ² ³		Octamer Binding Protein 3_like Sequence²
POU5F1P1¹ ² ³		POU 5 Domain Protein²
POU Class 5 Homeobox 1 Pseudogene 1¹ ²		POU Domain Transcription Factor Oct-4²
OTF3C² ³		POU Domain Transcription Factor OCT4-Pg1²
POU5FLC20² ³		POU Domain, Class 5, Transcription Factor 1 Pseudogene 1²
POU5FLC8² ³		Putative POU Domain, Class 5, Transcription Factor 1B²
POU Domain Class 5, Transcription Factor 1 Pseudogene 1¹		Octamer-Binding Protein 3-Like³
OCT4-PG1²		Octamer-Binding Transcription Factor 3-Like³

External Ids:	HGNC: 9223¹	Entrez Gene: 5462²	Ensembl: ENSG00000212993⁷	UniProtKB: Q06416³

Export aliases for POU5F1B gene to outside databases

Previous GC identifers: GC08P128499 GC08P123746

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

Entrez Gene summary for POU5F1B Gene:

This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been

reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and

highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional

activator and may play a role in carcinogenesis and eye development. (provided by RefSeq, Apr 2009)

GeneCards Summary for POU5F1B Gene:

POU5F1B (POU class 5 homeobox 1B) 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: P5F1B_HUMAN, Q06416

Function: Shows weak transcriptional activator activity

(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)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000008.10 NC_018919.2 NT_008046.17

Regulatory elements:

Regulatory transcription factor binding sites in the POU5F1B gene promoter:
STAT5B AML1a Pbx1a POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) CUTL1 Cdc5 POU3F2 Gfi-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for POU5F1B

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU5F1B

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

Entrez Gene cytogenetic band: 8q24.21 Ensembl cytogenetic band: 8q24.21 HGNC cytogenetic band: 8q24.21

POU5F1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU5F1B gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P128426: view genomic region (about GC identifiers)

Start:	128,426,535 bp from pter	End:	128,432,311 bp from pter
Size:	5,777 bases	Orientation:	plus 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, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: P5F1B_HUMAN, Q06416 (See protein sequence)

Recommended Name: Putative POU domain, class 5, transcription factor 1B

Size: 359 amino acids; 38588 Da

Caution: Could be the product of a pseudogene. Several pseudogenes of POU5F1 have been described on chromosomes 1,

3, 8, 10 and 12. Two of them, localized on chromosomes 8 and 10 have been shown to be preferentially transcribed

in cancer tissues and may be involved in the regulation of POU5F1 gene activity in carcinogenesis

Secondary accessions: D5K9V4 Q2VIK6 Q9BZV7 Q9BZV9

Explore the universe of human proteins at neXtProt for POU5F1B: NX_Q06416

Explore proteomics data for POU5F1B at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See POU5F1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001153014.1

ENSEMBL proteins:

ENSP00000419298 ENSP00000375557

POU5F1B Human Recombinant Protein Products:

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

HGNC Gene Families:

POU: Homeoboxes / POU class

Selected InterPro protein domains (see all 7):

IPR010982 Lambda_DNA-bd_dom

IPR013847 POU

IPR000327 POU_specific

IPR017970 Homeobox_CS

IPR001356 Homeobox_dom

Graphical View of Domain Structure for InterPro Entry Q06416

ProtoNet protein and cluster: Q06416

2 Blocks protein domains:

IPB000327 POU domain

IPB013847 POU

UniProtKB/Swiss-Prot: P5F1B_HUMAN, Q06416

Similarity: Belongs to the POU transcription factor family. Class-5 subfamily

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 1 POU-specific domain

Find genes that share domains with POU5F1B 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, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: P5F1B_HUMAN, Q06416

Function: Shows weak transcriptional activator activity

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	TAS	1408763
GO:0043565	sequence-specific DNA binding	IEA	--

Find genes that share ontologies with POU5F1B About GenesLikeMe

Animal Models:

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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, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

P5F1B_HUMAN, Q06416: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5

About this image

Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

Find genes that share ontologies with POU5F1B 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 GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for POU5F1B
Interactions:

Search GeneGlobe Interaction Network for POU5F1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for POU5F1B (ENSP00000375557⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 60)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NANOG	ENSP00000229307⁴	STRING: ENSP00000229307
ARID3B	ENSP00000343126⁴	STRING: ENSP00000343126
GATAD2B	ENSP00000357644⁴	STRING: ENSP00000357644
MTA2	ENSP00000278823⁴	STRING: ENSP00000278823
MTA1	ENSP00000333633⁴	STRING: ENSP00000333633

About this table

Gene Ontology (GO): 2 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	NAS	1408763

Find genes that share ontologies with POU5F1B 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, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for POU5F1B (P5F1B)

(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 )
About This Section

REFSEQ mRNAs for POU5F1B gene:

NM_001159542.1

Unigene Cluster for POU5F1B:

POU class 5 homeobox 1B

Hs.450254 [show with all ESTs]

Unigene Representative Sequence: DQ486513

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

ENST00000465342 ENST00000391675(uc003ysf.3)

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Additional mRNA sequence:

AF268615.1 AF268618.1 DQ486513.1 FM177969.1 FM177970.1 FM177971.1 FM177972.1 FM177973.1

FM177974.1 FM177975.1 FM177976.1 FM177977.1 FM177978.1 FM177979.1 FM177980.1 FM177981.1

FM177982.1

2 DOTS entries:

DT.100791937 DT.75142423

Selected AceView cDNA sequences (see all 32):

AF268615 BX108223 AF268618 BV207915 CB144537 BM817496 BV207913 BV199595

BM796771 BV207916 BV207917 CD247012 AA196616 BM857157 CD049748 CD049560

BG656494 BV199596 AA480280 CD048739 AA232432 BM830060 BV199667 AA515288

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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POU5F1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

POU5F1B expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Inner Cell Mass (Early Embryonic Tissues) fully expand to see all 14 entries
hIPS1
ESI-051

NULL (Uncategorized)
Mesenchymal Progenitor Cells - Passage 2

POU5F1B Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

POU5F1B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.450254

Custom PCR Arrays for POU5F1B

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In Situ
Assay Products:

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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 animals.

Orthologs for POU5F1B gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	POUV⁶	Gallus gallus POU domain class 5 transcription fac...	39(a)	1 → many	17(460123-461472)
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	55(a)	1 → many	GL343623.1(305510-323263)
zebrafish (Danio rerio)	Actinopterygii	pou5f3⁶	POU domain, class 5, transcription factor 3	28(a)	1 → many	21(11887950-11892809) ENSDARG00000044774
fruit fly (Drosophila melanogaster)	Insecta	acj6⁶	abnormal chemosensory jump 6	22(a)	1 → many	X(15245315-15272487)
worm (Caenorhabditis elegans)	Secernentea	unc-86⁶	Protein UNC-86, isoform a (unc-86) mRNA, complete ...	25(a)	1 → many	III(8212758-8216336) WBGene00006818

Species with no ortholog for POU5F1B

ENSEMBL Gene Tree for POU5F1B (if available)
TreeFam Gene Tree for POU5F1B (if available)

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

Paralogs for POU5F1B gene

POU5F2² POU6F2² POU4F2² POU2F3² POU3F1² POU3F4² POU1F1² POU3F3²

POU4F3² POU3F2² POU2F2² POU4F1² POU2F1² POU6F1² POU5F1²

12 SIMAP similar genes for POU5F1B using alignment to 1 protein entry: P5F1B_HUMAN:

POU5F1P1 POU5F1 POU5F1P3 POU5F1P4 POU6F1 POU3F4

POU5F2 POU1F1 POU2F2 POU2F1 POU3F2 POU3F1

Find genes that share paralogs with POU5F1B 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)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79611240^1,2	C,F	--	128425906(+)	`AAGCAG/AAGCAT`	1	--	us2k¹		1		MN	156
rs141939621^1,2		--	128425919(+)	`CCTCAA/GACGAT`	1	--	us2k¹		0	--	--	--	--
rs80055306^1,2	C,F	--	128426003(+)	`ACTTTT/ACTGCT`	1	--	us2k¹		1		EA	120
rs201753980^1,2		--	128426100(+)	`AGGTG-/GTGTACA`	1	--	us2k¹		0	--	--	--	--
rs75170146^1,2	C	--	128426103(+)	`GTGGTA/GCACAC`	1	--	us2k¹		0	--	--	--	--
rs3999776^1,2	C	--	128426125(+)	`acaca-/CA/ CACACANNNNN`	2	--	us2k¹ cds¹		1		NA	2
rs78098257^1,2	C,F	--	128426196(+)	`GAAGTT/GAATGA`	1	--	us2k¹		2		MN NA	246
rs150704177^1,2	C	--	128426369(+)	`TATCTA/GTCTTA`	1	--	us2k¹		0	--	--	--	--
rs871135^1,2	C,F,A,H	--	128426393(+)	`AGAACT/GTCAAA`	1	--	us2k¹		18		NS EA NA WA MN CSA	1190
rs184200293^1,2	C	--	128426433(+)	`GAGAAC/TGTTTA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for POU5F1B (128426535 - 128432311 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for POU5F1B: About this table

Variant ID	Type	Subtype	PubMed ID
nsv499795	OTHER	Inversion	21111241
nsv7419	OTHER	Inversion	18451855

Human Gene Mutation Database (HGMD): POU5F1B

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing POU5F1B

DNA2.0 Custom Variant and Variant Library Synthesis for POU5F1B

(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, Sets of similar genes according to GenesLikeMe)
About This Section

1 inferred disease relationship from the University of Copenhagen DISEASES database for POU5F1B:

Teratoma

Find genes that share disorders with POU5F1B About GenesLikeMe

Genetic Association Database (GAD): POU5F1B
Human Genome Epidemiology (HuGE) Navigator: POU5F1B (1 document)

Export disorders for POU5F1B 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 POU5F1B gene, integrated from 10 sources (see all 27):
(articles sorted by number of sources associating them with POU5F1B)

Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues. (PubMed id 1408763)^{1, 2, 3} Takeda J.... Bell G.I. (Nucleic Acids Res. 1992)
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PubMed id 22041458)^{1, 4} Clark S.L....van den Oord E.J. (Psychol Med 2012)
The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1. (PubMed id 18949397)^{1, 2} Panagopoulos I.... Mertens F. (Oncol. Rep. 2008)
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. (PubMed id 17401366)^{1, 4} Gudmundsson J....Stefansson K. (Nat. Genet. 2007)
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. (PubMed id 17401363)^{1, 4} Yeager M....Thomas G. (Nat. Genet. 2007)
Emergence of young human genes after a burst of retroposition in primates. (PubMed id 16201836)^{1, 2} Marques A.C.... Kaessmann H. (PLoS Biol. 2005)
A diabetic milieu promotes OCT4 and NANOG production in human visceral-derived adipose stem cells. (PubMed id 23064289)¹ Dentelli P....Brizzi M.F. (Diabetologia 2013)
Differential expression of Oct4 variants and pseudogenes in normal urothelium and urothelial cancer. (PubMed id 23933063)¹ Wezel F....Southgate J. (Am. J. Pathol. 2013)
Genome-wide association study identifies new prostate cancer susceptibility loci. (PubMed id 21743057)⁴ Schumacher F.R....Kraft P. (Hum. Mol. Genet. 2011)
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. (PubMed id 20972438)⁴ Rothman N....Chanock S.J. (Nat. Genet. 2010)

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

Entrez Gene: 5462	HGNC: 9223	AceView: POU5F1P1	Ensembl:ENSG00000212993	euGenes: HUgn5462
ECgene: POU5F1B	H-InvDB: POU5F1B

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for POU5F1B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for POU5F1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for POU5F1B gene:
Search GeneIP for patents involving POU5F1B

GeneCards and IP:
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POU5F1B Gene

POU Class 5 Homeobox 1B

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POU5F1B Gene

POU Class 5 Homeobox 1B

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