Free for academic non-profit institutions. Other users need a Commercial license
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]
POU5F1 (POU Class 5 Homeobox 1) is a Protein Coding gene. Diseases associated with POU5F1 include Embryonal Carcinoma and Teratoma. Among its related pathways are Preimplantation Embryo and Transcriptional regulation of pluripotent stem cells. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is POU5F1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 19409607 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS | -- |
GO:0000987 | proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 19409607 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISS | -- |
GO:0005634 | nucleus | IEA,IDA | 18000303 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 18281244 |
GO:0005739 | mitochondrion | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Human Early Embryo Development |
Human Early Embryo Development
-
|
|
2 | Transcriptional regulation of pluripotent stem cells | ||
3 | Mesodermal Commitment Pathway | ||
4 | Wnt / Hedgehog / Notch | ||
5 | Signaling pathways regulating pluripotency of stem cells |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 19409607 |
GO:0001714 | endodermal cell fate specification | IDA | 20713518 |
GO:0001824 | blastocyst development | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA,IDA | 16153702 |
GO:0006357 | regulation of transcription by RNA polymerase II | ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
OAC1 | Oct4 activator | 300586-90-7 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POU5F1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
POU5F1 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | POU5F1 30 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Pou5f1 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Pou5f1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | POUV 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23276 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pou5f3 31 |
|
OneToMany | |
pou5f1 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | acj6 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-86 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1061120 | - | p.Thr351Ile | |||
rs1150767 | - | p.Leu226Phe | |||
VAR_003774 | - | p.Thr322Ala | |||
VAR_003775 | - | p.Met357Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1174e214 | CNV | gain | 21293372 |
dgv1175e214 | CNV | gain | 21293372 |
esv2731791 | CNV | deletion | 23290073 |
esv2759414 | CNV | gain+loss | 17122850 |
esv3411275 | CNV | duplication | 20981092 |
esv3608531 | CNV | loss | 21293372 |
esv3608532 | CNV | gain | 21293372 |
nsv1074389 | CNV | deletion | 25765185 |
nsv1122126 | CNV | deletion | 24896259 |
nsv1144137 | CNV | deletion | 24896259 |
nsv428140 | CNV | gain+loss | 18775914 |
nsv524061 | CNV | loss | 19592680 |
nsv525933 | CNV | loss | 19592680 |
nsv601264 | CNV | loss | 21841781 |
nsv601481 | CNV | loss | 21841781 |
nsv970105 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
embryonal carcinoma |
|
|
teratoma |
|
|
germinoma |
|
|
central nervous system germinoma |
|
|
ewing sarcoma |
|