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

Gene ID: 5462, updated on 1-Jun-2020

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
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

Genomic context

See POU5F1B in Genome Data Viewer
Location:
8q24.21
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (127415825..127417210)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (128427131..128429455)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cancer susceptibility 21 Neighboring gene cancer susceptibility 8 Neighboring gene colon cancer associated transcript 2 Neighboring gene uncharacterized LOC105375754 Neighboring gene origin of replication upstream of MYC Neighboring gene cancer susceptibility 11

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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)

  1. NM_001159542.2NP_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)
    DQ486513
    Consensus CDS
    CCDS55274.1
    UniProtKB/Swiss-Prot
    Q06416
    Related
    ENSP00000495779.1, ENST00000645438.1
    Conserved Domains (2) summary
    smart00352
    Location:138212
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:233285
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    127415825..127417210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
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