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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POU5F1B Gene

protein-coding GIFtS: 43
GCID: GC08P128426

POU Class 5 Homeobox 1B

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

7 related diseases
at

MalaCards

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

Aliases
POU Class 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, 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. Diseases associated with POU5F1B include gonadoblastoma, and chronic lymphocytic leukemia. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NT_008046.16 NC_018919.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for POU5F1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

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

Size: 359 amino acids; 38588 Da

Subcellular location: Nucleus

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q06416

POU5F1B Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_001153014.1

ENSEMBL proteins:

ENSP00000419298 ENSP00000375557

Human Recombinant Protein Products for POU5F1B:

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	Cloud-Clone Corp. Proteins for POU5F1B

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

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

POU5F1B for ontologies About GeneDecksing

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

HGNC Gene Families:

POU: Homeoboxes / POU class

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

IPR010982 Lambda_DNA-bd_dom

IPR013847 POU

IPR000327 POU_specific

IPR017970 Homeobox_CS

IPR001356 Homeodomain

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

POU5F1B 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: P5F1B_HUMAN, Q06416

Function: Shows weak transcriptional activator activity

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): 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	--

POU5F1B for ontologies About GeneDecksing

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU5F1B

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for POU5F1B

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	1408763

POU5F1B for ontologies About GeneDecksing

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

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for POU5F1B (P5F1B)

Search CenterWatch for drugs/clinical trials and news about 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,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
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

24/32 AceView cDNA sequences (see all 32):

AF268615 BM817496 BX108223 BM796771 BV199595 BV207913 AF268618 BV207915

CB144537 BV207917 BV207916 AA196616 BM830060 CD049560 CD049748 BG656494

AA480280 BV199596 BM857157 BV199667 AA232432 CD247012 CD048739 BM854645

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POU5F1B expression in normal human tissues (normalized intensities) POU5F1B embryonic expression: see
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

5/4 selected tissues (see all 4) fully expand


Inner Cell Mass (Early Embryo) fully expand to see all 2 entries
Line H9 (WA09)

Early Embryo (Zygote) (Early Embryo)
Induced pluripotent stem cell line C2a

Adipose (Muscoskeletal System)
Mesenchymal Progenitor Cells - Passage 2 (Differentiation of human pluripotent stem...

Endoderm (Gastrulation Derivatives)
Mesendoderm-like cells (Generation of mesendoderm and definitive endoderm cells)

See POU5F1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POU5F1B

SOURCE GeneReport for Unigene cluster: Hs.450254

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU5F1B

(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 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	POUV⁶	POU domain class 5 transcription factor 1	40(a)	possible ortholog	17(460123-461472)
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	56(a)	1 → many	GL343623.1(305510-323263)
zebrafish (Danio rerio)	Actinopterygii	pou5f1⁶	POU domain, class 5, transcription factor 1	28(a)	possible ortholog	21(11887950-11892809)
worm (Caenorhabditis elegans)	Secernentea	ceh-18⁶	Homeobox protein ceh-18	15(a)	1 → many	X(3843827-3857797)

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)
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

POU5F1B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_067432⁴		--	--	see VAR_067432	2	L R	mis⁴		0	--	--	--	--
VAR_067438⁴		--	--	see VAR_067438	2	P L	mis⁴		0	--	--	--	--
VAR_067433⁴		--	--	see VAR_067433	2	L F	mis⁴		0	--	--	--	--
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

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

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

POU5F1B for disorders About GeneDecksing

7 diseases for POU5F1B: About MalaCards

gonadoblastoma chronic lymphocytic leukemia teratoma colorectal cancer

prostatitis prostate cancer leukemia

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

Teratoma

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 9 sources (see all 27):
(articles sorted by number of sources associating them with POU5F1B)

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

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. (1992)
Pharmacogenomic study of side-effects for antidepressa nt treatment options in STAR*D. (PubMed id 22041458)^{1, 4} Clark S.L....van den Oord E.J. (2012)
The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1. (PubMed id 18949397)^{1, 2} Panagopoulos I....Mertens F. (2008)
Genome-wide association study identifies a second pro state cancer susceptibility variant at 8q24. (PubMed id 17401366)^{1, 4} Gudmundsson J....Stefansson K. (2007)
Genome-wide association study of prostate cancer iden tifies a second risk locus at 8q24. (PubMed id 17401363)^{1, 4} Yeager M....Thomas G. (2007)
Emergence of young human genes after a burst of retroposition in primates. (PubMed id 16201836)^{1, 2} Marques A.C.... Kaessmann H. (2005)
A diabetic milieu promotes OCT4 and NANOG production i n human visceral-derived adipose stem cells. (PubMed id 23064289)¹ Dentelli P....Brizzi M.F. (2013)
Differential expression of oct4 variants and pseudogen es in normal urothelium and urothelial cancer. (PubMed id 23933063)¹ Wezel F....Southgate J. (2013)
Genome-wide association study identifies new prostate cancer susceptibility loci. (PubMed id 21743057)⁴ Schumacher F.R....Kraft P. (2011)
A multi-stage genome-wide association study of bladde r cancer identifies multiple susceptibility loci. (PubMed id 20972438)⁴ Rothman N....Chanock S.J. (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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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.)

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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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