Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases N.A.
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions TF
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000204531 Gene ID 5460 Accession 9221
Symbol POU5F1 Alias OCT3;OCT4;OTF3;OTF4;OTF-3;Oct-3;Oct-4;Oct3/4 Full Name POU class 5 homeobox 1
Status Confidence Length 16395 bases Strand Minus strand
Position 6 : 31164337 - 31180731 RNA binding domain N.A.
Summary This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
12552Breast Neoplasms3.869E-0917660530
12561Breast Neoplasms8.715E-0917660530
12575Breast Neoplasms1.338E-0817660530
16300Behcet Syndrome1.13824461579159E-0520622878
16351Behcet Syndrome6.5476120653204E-0520622878
16362Behcet Syndrome2.29120901532432E-0520622878
69881Glomerulonephritis, Membranous4E-3721323541
73754Stevens-Johnson Syndrome8E-721801394
74859Cleft Lip3E-628087736
74860Cleft Palate3E-628087736
76363Diabetes Mellitus, Type 24E-924509480
84576Cleft Lip5E-628087736
84577Cleft Palate5E-628087736
91815Body Height2E-720881960
106968Stevens-Johnson Syndrome2E-821801394

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000122involved_in negative regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0000976enables transcription cis-regulatory region binding1IDAHomo_sapiens(9606)Function
GO:0000978enables RNA polymerase II cis-regulatory region sequence-specific DNA binding1IBAHomo_sapiens(9606)Function
GO:0000981enables DNA-binding transcription factor activity, RNA polymerase II-specific2IBA,ISSHomo_sapiens(9606)Function
GO:0001227enables DNA-binding transcription repressor activity, RNA polymerase II-specific1IDAHomo_sapiens(9606)Function
GO:0001714acts_upstream_of_or_within endodermal cell fate specification1IDAHomo_sapiens(9606)Process
GO:0001824involved_in blastocyst development1ISSHomo_sapiens(9606)Process
GO:0003677enables DNA binding1IDAHomo_sapiens(9606)Function
GO:0003700enables DNA-binding transcription factor activity1IDAHomo_sapiens(9606)Function
GO:0003723enables RNA binding1HDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus2IC,IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005739located_in mitochondrion1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0006355involved_in regulation of DNA-templated transcription1IDAHomo_sapiens(9606)Process
GO:0006357involved_in regulation of transcription by RNA polymerase II2IBA,ISSHomo_sapiens(9606)Process
GO:0009611involved_in response to wounding1IEPHomo_sapiens(9606)Process
GO:0009653involved_in anatomical structure morphogenesis1TASHomo_sapiens(9606)Process
GO:0009786involved_in regulation of asymmetric cell division1ISSHomo_sapiens(9606)Process
GO:0010468involved_in regulation of gene expression1IMPHomo_sapiens(9606)Process
GO:0031625enables ubiquitin protein ligase binding1IPIHomo_sapiens(9606)Function
GO:0035019involved_in somatic stem cell population maintenance2IDA,IMPHomo_sapiens(9606)Process
GO:0035198enables miRNA binding1IDAHomo_sapiens(9606)Function
GO:0043565enables sequence-specific DNA binding1IDAHomo_sapiens(9606)Function
GO:0045944acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0060965involved_in negative regulation of miRNA-mediated gene silencing1IMPHomo_sapiens(9606)Process
GO:1902894involved_in negative regulation of miRNA transcription1IDAHomo_sapiens(9606)Process
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function

Expression