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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:POU5F1

Protein Summary

check button Gene summary
Gene name: POU5F1
ASpdb.0 ID: 5460
Gene
Gene symbol

POU5F1

Gene ID

5460

Gene namePOU class 5 homeobox 1
SynonymsOCT3|OCT4|OTF-3|OTF3|OTF4|Oct-3|Oct-4|Oct3/4
Cytomap

6p21.33

Type of geneprotein-coding
DescriptionPOU domain, class 5, transcription factor 1POU domain transcription factor OCT4POU-type homeodomain-containing DNA-binding proteinoctamer-binding protein 3octamer-binding protein 4octamer-binding transcription factor 3
Modification date20240407
UniProtAcc

Q01860


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GenePOU5F1

GO:0000122

negative regulation of transcription by RNA polymerase II

19409607

GenePOU5F1

GO:0000976

transcription cis-regulatory region binding

19409607

GenePOU5F1

GO:0001227

DNA-binding transcription repressor activity, RNA polymerase II-specific

19409607

GenePOU5F1

GO:0001714

endodermal cell fate specification

20713518

GenePOU5F1

GO:0003677

DNA binding

16153702

GenePOU5F1

GO:0003700

DNA-binding transcription factor activity

16153702

GenePOU5F1

GO:0005634

nucleus

18000303|18191611|19274063|21828274

GenePOU5F1

GO:0005654

nucleoplasm

20458727

GenePOU5F1

GO:0005737

cytoplasm

18281244|20458727|21828274

GenePOU5F1

GO:0005739

mitochondrion

-

GenePOU5F1

GO:0005829

cytosol

18000303

GenePOU5F1

GO:0006355

regulation of DNA-templated transcription

16153702

GenePOU5F1

GO:0035019

somatic stem cell population maintenance

19409607

GenePOU5F1

GO:0035198

miRNA binding

18710938|19409607

GenePOU5F1

GO:0043565

sequence-specific DNA binding

20713518

GenePOU5F1

GO:0045944

positive regulation of transcription by RNA polymerase II

20713518

GenePOU5F1

GO:1902894

negative regulation of miRNA transcription

19409607

GenePOU5F1

GO:1990837

sequence-specific double-stranded DNA binding

28473536



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q01860-1Q01860-1_6t90_K.pdb6T90EM3.05K138210

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q01860POU5F1Q01860-1Q01860-23602651135SubstitutionMAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGPPGGPGIGPGVGPGSEVWGIPPCPPPYEFCGGMAYCGPQVGVGLVPQGGLETSQPEGEAGVGVESNSDGASPEPCTVTPGAVKLEKEKLEQNPEEMHFYRLFLGATRRFLNPEWKGEIDNWCVYVLTSLLPFKIQ140

check buttonMultiple sequence alignment of our canonical and alternatively spliced POU5F1

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of POU5F1
UniProt-idENSGENSTENSP
Q01860-1ENSG00000204531.21ENST00000259915.13ENSP00000259915.7
Q01860-1ENSG00000206454.12ENST00000383524.4ENSP00000373016.4
Q01860-1ENSG00000233911.9ENST00000429603.2ENSP00000392877.2
Q01860-1ENSG00000235068.9ENST00000433063.6ENSP00000405041.2
Q01860-1ENSG00000229094.9ENST00000434616.2ENSP00000388842.2
Q01860-1ENSG00000237582.10ENST00000437747.6ENSP00000391681.2
Q01860-1ENSG00000230336.9ENST00000454714.6ENSP00000400047.2
Q01860-2ENSG00000206454.12ENST00000376243.8ENSP00000365419.4
Q01860-2ENSG00000229094.9ENST00000412166.6ENSP00000387646.2
Q01860-2ENSG00000235068.9ENST00000419095.2ENSP00000413622.2
Q01860-2ENSG00000237582.10ENST00000429314.2ENSP00000387619.2
Q01860-2ENSG00000230336.9ENST00000433348.2ENSP00000412665.2
Q01860-2ENSG00000233911.9ENST00000451077.6ENSP00000391507.2

UniProt-idNM IDNP ID
Q01860-1NM_002701.5NP_002692.2
Q01860-2NM_001285987.1NP_001272916.1

check buttonAmino acid sequences of our canonical and alternatively spliced POU5F1
accession_idProtein sequence
Q01860-1MAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGPPGGPGIGPGVGPGSEVWGIPPCPPPYEFCGGMAYCGPQVGVGLVPQGGL
ETSQPEGEAGVGVESNSDGASPEPCTVTPGAVKLEKEKLEQNPEESQDIKALQKELEQFAKLLKQKRITLGYTQADVGLTLGVLFGKVFS
QTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENRVRGNLENLFLQCPKPTLQQISHIAQQLGLE
KDVVRVWFCNRRQKGKRSSSDYAQREDFEAAGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN
Q01860-2MHFYRLFLGATRRFLNPEWKGEIDNWCVYVLTSLLPFKIQSQDIKALQKELEQFAKLLKQKRITLGYTQADVGLTLGVLFGKVFSQTTIC
RFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENRVRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVR

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
POU5F1 (go to UniProt):Q01860

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
Q01860Region152Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=1;End=135
Q01860Region88114Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=1;End=135
Q01860Motif412Note=9aaTAD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34342803;Dbxref=PMID:34342803Type=Substitution;Start=1;End=135


Gene Isoform Structures and Expression Levels for POU5F1

check buttonGene structures of our canonical and alternative spliced genes of POU5F1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of POU5F1

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of Q01860-1
3D view using mol* of Q01860-2


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of Q01860-1
all structure
pLDDT distribution across the protein length of Q01860-2
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of Q01860-1
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
Q01860-10.846640.879175.2730.6650.5860.7530.7790.6891.130.462234,235,236,237,239,242,246,272,273,276,277,280,28
1,284
Q01860-20.874380.932111.4750.5630.6780.8772.7360.16616.5073.3953,6,7,10,11,14,27,30,31,34

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of Q01860-1_Q01860-1_6t90_K.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of Q01860-1_6t90_K_Q01860-2.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of Q01860-1_Q01860-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q01860-1_vs_Q01860-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q01860-1_vs_Q01860-2.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to POU5F1


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions

Related Diseases to POU5F1


check button Previous studies relating to the alternative splicing of POU5F1 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term
POU5F120433421Oct-4B isoform is differentially expressed in breast cancer cells: hypermethylation of regulatory elements of Oct-4A suggests an alternative promoter and transcriptional start site for Oct-4B transcription.The human Oct-4 gene has three isoforms, Oct-4A, Oct-4B and Oct-4B1, which are thought to be derived from alternative splicing. It remains controversial whether the Oct-4 gene is expressed in cancer cells. Expression of Oct-4A is regulated by two elements, the PE (proximal enhancer) and DE (distal enhancer), but the expression and regulation of Oct-4B are not well known. Here, we firstly report that Oct-4B is expressed at low levels in MCF-7 cells, while the Oct-4A gene is inactivated. By analysing the function of different promoter constructs and the DNA methylation status of three regulatory regions, we demonstrate that the Oct-4A gene in MCF-7 cells is repressed by epigenetic control rather than transcriptional control. In addition, we speculate that the transcription of Oct-4B in MCF-7 cells is differentially regulated by additional regulatory elements. This work will enhance the understanding of Oct-4 gene in differential regulation.D001943Breast Neoplasms
POU5F123636800Prognostication of OCT4 isoform expression in prostate cancer.Cancer stem cells (CSCs) refer to a subset of tumor cells that self-renew and affect tumor heterogeneity. This model has attracted considerable interest in recent years due to its implications in the prognosis and clinical management of cancer because CSCs mediate the occurrence, growth, and recurrence of tumors. OCT4 is central to embryonic stem cell self-renewal and differentiation into specific lineages and encodes two chief isoforms that are generated by alternative splicing--OCT4A and OCT4B. Their function in prostate cancer (PCa) is unknown. The prognostic function of OCT4 isoforms in PCa samples was examined by immunohistochemistry (IHC) and sensitivity and specificity of the antibodies used were evaluated by molecular biology techniques. Biochemical and pathological data and specimens from 193 patients with PCa were evaluated retrospectively. IHC, western blot, immunofluorescence, and automated image analysis were also performed. IHC was performed on a tissue microarray, and western blot and immunofluorescence were performed using the PCa cell line DU-145. IHC expression of OCT4 isoforms correlated with biochemical and pathological parameters, particularly biochemical recurrence-free survival (BCRFS). Patients with higher levels of OCT4B had lower Gleason scores and decreased likelihood of experiencing biochemical recurrence (BR). OCT4A(+) OCT4B(-) patients had the shortest BCRFS, and positivity for OCT4B expression was an independent prognostic factor for BCRFS in the multivariate analysis. We conclude that the expression of OCT4B is a strong marker of good prognosis, and its presence is associated with a decreased likelihood of BR. Thus, OCT4B might represent a powerful clinical prognostic biomarker for PCa patients.D000230Adenocarcinoma
POU5F123636800Prognostication of OCT4 isoform expression in prostate cancer.Cancer stem cells (CSCs) refer to a subset of tumor cells that self-renew and affect tumor heterogeneity. This model has attracted considerable interest in recent years due to its implications in the prognosis and clinical management of cancer because CSCs mediate the occurrence, growth, and recurrence of tumors. OCT4 is central to embryonic stem cell self-renewal and differentiation into specific lineages and encodes two chief isoforms that are generated by alternative splicing--OCT4A and OCT4B. Their function in prostate cancer (PCa) is unknown. The prognostic function of OCT4 isoforms in PCa samples was examined by immunohistochemistry (IHC) and sensitivity and specificity of the antibodies used were evaluated by molecular biology techniques. Biochemical and pathological data and specimens from 193 patients with PCa were evaluated retrospectively. IHC, western blot, immunofluorescence, and automated image analysis were also performed. IHC was performed on a tissue microarray, and western blot and immunofluorescence were performed using the PCa cell line DU-145. IHC expression of OCT4 isoforms correlated with biochemical and pathological parameters, particularly biochemical recurrence-free survival (BCRFS). Patients with higher levels of OCT4B had lower Gleason scores and decreased likelihood of experiencing biochemical recurrence (BR). OCT4A(+) OCT4B(-) patients had the shortest BCRFS, and positivity for OCT4B expression was an independent prognostic factor for BCRFS in the multivariate analysis. We conclude that the expression of OCT4B is a strong marker of good prognosis, and its presence is associated with a decreased likelihood of BR. Thus, OCT4B might represent a powerful clinical prognostic biomarker for PCa patients.D011471Prostatic Neoplasms


Clinically important variants in POU5F1


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance