POU5F1 (POU class 5 homeobox 1)

2007-02-01  

Identity

HGNC
POU5F1
LOCATION
6p21.33
LOCUSID
5460
ALIAS
OCT3,OCT4,OTF-3,OTF3,OTF4,Oct-3,Oct-4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5460
MIM: 164177
HGNC: 9221
Ensembl: ENSG00000204531

Variants:

dbSNP: 5460
ClinVar: 5460
TCGA: ENSG00000204531
COSMIC: POU5F1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204531ENST00000259915Q01860
ENSG00000204531ENST00000259915D2IYK3
ENSG00000204531ENST00000441888F2Z381
ENSG00000204531ENST00000471529F2Z381
ENSG00000204531ENST00000512818F2Z381
ENSG00000204531ENST00000513407F2Z381
ENSG00000204531ENST00000606567U3KQH6
ENSG00000204531ENST00000638788A0A1W2PP83

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of pluripotent stem cellsREACTOMER-HSA-452723
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferationREACTOMER-HSA-2892247
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiationREACTOMER-HSA-2892245

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166120929severe cutaneous adverse reactionsDiseaseClinicalAnnotationassociatedPD21801394
PA444059Epidermal Necrolysis, ToxicDiseaseClinicalAnnotation, VariantAnnotationassociatedPD21801394
PA445738Stevens-Johnson SyndromeDiseaseClinicalAnnotation, VariantAnnotationassociatedPD21801394
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationassociatedPD21801394
PA448785carbamazepineChemicalVariantAnnotationassociatedPD
PA450947phenytoinChemicalVariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
161537022005Core transcriptional regulatory circuitry in human embryonic stem cells.1612
181571152008Reprogramming of human somatic cells to pluripotency with defined factors.1046
194096072009MicroRNA-145 regulates OCT4, SOX2, and KLF4 and represses pluripotency in human embryonic stem cells.447
235419212013Endogenous miRNA sponge lincRNA-RoR regulates Oct4, Nanog, and Sox2 in human embryonic stem cell self-renewal.266
211596542010Coexpression of Oct4 and Nanog enhances malignancy in lung adenocarcinoma by inducing cancer stem cell-like properties and epithelial-mesenchymal transdifferentiation.234
185939852008Positive correlations of Oct-4 and Nanog in oral cancer stem-like cells and high-grade oral squamous cell carcinoma.233
187109382008Oct4/Sox2-regulated miR-302 targets cyclin D1 in human embryonic stem cells.225
197180182009Direct reprogramming of human neural stem cells by OCT4.215
224825082012Distinct lineage specification roles for NANOG, OCT4, and SOX2 in human embryonic stem cells.178
155139312005Oct4 expression in adult human stem cells: evidence in support of the stem cell theory of carcinogenesis.172

Citation

Dessen P

POU5F1 (POU class 5 homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43916/pou5f1