POU5F1B POU class 5 homeobox 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: POU5F1Bprovided by HGNC
Official Full Name: POU class 5 homeobox 1Bprovided by HGNC
Primary source: HGNC:HGNC:9223
See related: Ensembl:ENSG00000212993 MIM:615739; AllianceGenome:HGNC:9223
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OTF3C; OTF3P1; OCT4PG1; OCT4-PG1; POU5F1P1; POU5F1P4; POU5FLC8; POU5FLC20
Summary: 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]
Annotation information: Note: This gene is named as a pseudogene but may be a protein coding gene as a transcript has been shown to encode a protein which can function as a transcription factor (PMID: 18949397). [03 Mar 2009]
Orthologs: all
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Genomic context

Location:: 8q24.21

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (127413447..127417224)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (128540849..128544631)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (128425692..128429469)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transposon-activated POU5F1B promotes colorectal cancer growth and metastasis.
Title: Transposon-activated POU5F1B promotes colorectal cancer growth and metastasis.
Recurrent Superenhancer of the Oncogene POU5F1B in Colorectal Cancers.
Title: Recurrent Superenhancer of the Oncogene POU5F1B in Colorectal Cancers.
POU5F1B was underexpressed in AML compared with controls (P<0.001). The receiver operating characteristic (ROC) curve revealed that the POU5F1B transcript level was able to differentiate AML patients from healthy individuals (AUC=0.682). In non-APL AML patients.
Title: Low Expression of Pseudogene POU5F1B Affects Diagnosis and Prognosis in Acute Myeloid Leukemia (AML).
Radiotherapy contributed to the decline in the expression level of POU5F1B in plasma, which was upregulated in ECA109, ECA9706, KYSE410, and KYSE510, but not in HEEPIC. The knockdown of POU5F1B increased the radiosensitivity of esophageal cancer cell lines.
Title: Knockdown of Long Noncoding RNA POU5F1B Promotes Radiosensitivity in Esophageal Carcinoma.
POU5F1B was upregulated in cervical cancer and down-regulation inhibited cell proliferation and migration and induced apoptosis in cervical cancer cell lines by modulating OCT4.
Title: The Octamer-Binding Transcription Factor 4 (OCT4) Pseudogene, POU Domain Class 5 Transcription Factor 1B (POU5F1B), is Upregulated in Cervical Cancer and Down-Regulation Inhibits Cell Proliferation and Migration and Induces Apoptosis in Cervical Cancer Cell Lines.
Study shows that irrespective of tumor type or clinicopathological status, breast cancer cells expressed high levels of Oct3/4 at mRNA and protein levels. Further sequencing analysis show that breast tumors and MCF-7 cell line predominantly expressed transcripts of POU5F1B, an Oct4-like gene from chromosome 8 which possess 94% similitude with oct-4.
Title: Differential expression of Oct3/4 in human breast cancer and normal tissues.
POU5F1B promotes hepatocellular carcinoma cell proliferation by activating AKT protein.
Title: POU5F1B promotes hepatocellular carcinoma proliferation by activating AKT.
We identified eight specific CpG sites at 8q24, including six correlated sites in the POU5F1B gene, as well as two CpG sites in intergenic regions, whose DNA methylation levels were associated with prostate cancer risk.
Title: Prospective study of DNA methylation at chromosome 8q24 in peripheral blood and prostate cancer risk.
The POU5F1B pseudogene is amplified and expressed at a high level in, as well as confers an aggressive phenotype on, GC, and that POU5F1B amplification is associated with a poor prognosis in GC patients.
Title: The OCT4 pseudogene POU5F1B is amplified and promotes an aggressive phenotype in gastric cancer.
POU5F1P1 rs10505477 is correlated with survival of gastric cancer patients who receving cisplatin-based chemotherapy after gastrectomy.
Title: Clinical significance of POU5F1P1 rs10505477 polymorphism in Chinese gastric cancer patients receving cisplatin-based chemotherapy after surgical resection.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

RH77966 (e-PCR)
- UniSTS:72366

POU5F1 (e-PCR)
- UniSTS:479943

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: putative POU domain, class 5, transcription factor 1B

Names: POU 5 domain protein; POU class 5 homeobox 1 pseudogene 1; POU domain transcription factor OCT4-pg1; POU domain transcription factor Oct-4; POU domain, class 5, transcription factor 1 pseudogene 1; octamer binding protein 3_like sequence

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001159542.3 → NP_001153014.1 putative POU domain, class 5, transcription factor 1B

See identical proteins and their annotated locations for NP_001153014.1

Status: VALIDATED

Source sequence(s)

AC016883

Consensus CDS

CCDS55274.1

UniProtKB/Swiss-Prot

D5K9S4, D5K9S9, D5K9T0, D5K9T1, D5K9T3, D5K9U3, D5K9U6, D5K9V4, D5K9V6, D5K9W0, D5K9W2, D5K9W7, D5K9X2, D5K9X3, D5K9X5, D5K9X8, D5K9X9, E9LRB1, E9LRB2, E9LRH5, E9LRH6, E9LRH7, E9LRK4, E9LRK5, E9LRK7, E9LRK8, E9LRM7, E9LRM9, E9LRN2, E9LRN4, E9LRN5, E9LRP8, E9LRQ0, E9LRQ2, E9LRQ3, E9LRQ4, E9LRQ5, E9LRS3, Q06416, Q2VIK6, Q9BZV7, Q9BZV9

UniProtKB/TrEMBL

D5K9Q7

Related

ENSP00000512769.1, ENST00000696633.1

Conserved Domains (2) summary

smart00352
Location:138 → 212

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:233 → 286

Homeobox; Homeobox domain
NM_001395745.1 → NP_001382674.1 putative POU domain, class 5, transcription factor 1B

Status: VALIDATED

Source sequence(s)

AC016883

Consensus CDS

CCDS55274.1

UniProtKB/Swiss-Prot

D5K9S4, D5K9S9, D5K9T0, D5K9T1, D5K9T3, D5K9U3, D5K9U6, D5K9V4, D5K9V6, D5K9W0, D5K9W2, D5K9W7, D5K9X2, D5K9X3, D5K9X5, D5K9X8, D5K9X9, E9LRB1, E9LRB2, E9LRH5, E9LRH6, E9LRH7, E9LRK4, E9LRK5, E9LRK7, E9LRK8, E9LRM7, E9LRM9, E9LRN2, E9LRN4, E9LRN5, E9LRP8, E9LRQ0, E9LRQ2, E9LRQ3, E9LRQ4, E9LRQ5, E9LRS3, Q06416, Q2VIK6, Q9BZV7, Q9BZV9

UniProtKB/TrEMBL

D5K9Q7

Related

ENSP00000495779.1, ENST00000645438.1

Conserved Domains (2) summary

smart00352
Location:138 → 212

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:233 → 286

Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

127413447..127417224

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

128540849..128544631

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_002304.2: Suppressed sequence

Description

NR_002304.2: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.