ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures
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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:PHF1

Protein Summary

check button Gene summary
Gene name: PHF1
ASpdb.0 ID: 5252
Gene
Gene symbol

PHF1

Gene ID

5252

Gene namePHD finger protein 1
SynonymsMTF2L2|PCL1|PHF2|TDRD19C|hPHF1
Cytomap

6p21.32

Type of geneprotein-coding
DescriptionPHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19C
Modification date20240411
UniProtAcc

O43189


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GenePHF1

GO:0005634

nucleus

23273982

GenePHF1

GO:0005654

nucleoplasm

-

GenePHF1

GO:0005813

centrosome

20873783

GenePHF1

GO:0005829

cytosol

-

GenePHF1

GO:0035064

methylated histone binding

23142980|23273982

GenePHF1

GO:0035098

ESC/E(Z) complex

23273982

GenePHF1

GO:0035861

site of double-strand break

23142980

GenePHF1

GO:0140861

DNA repair-dependent chromatin remodeling

23142980



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
O43189-1O43189-1_5xfo_A.pdb5XFOX-ray1.9A26340

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
O43189PHF1O43189-1O43189-2567457350457SubstitutionSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRMFASFHPSRAGPWGRGLTSPGEAPEAGARAPEEEAEGESGGAGATLSSAQSARAPGAEGAGSSAEGTAAAPSGCLLPSTLLPAPQGPLGTVDPQTGHPWNFTLVSPQTSLKVPPTR350457
O43189PHF1O43189-1O43189-2567457458567Deletionnonenone457457

check buttonMultiple sequence alignment of our canonical and alternatively spliced PHF1

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of PHF1
UniProt-idENSGENSTENSP
O43189-1ENSG00000112511.18ENST00000374516.8ENSP00000363640.3
O43189-2ENSG00000112511.18ENST00000374512.7ENSP00000363636.3

UniProt-idNM IDNP ID
O43189-1NM_024165.2NP_077084.1
O43189-2NM_002636.4NP_002627.1

check buttonAmino acid sequences of our canonical and alternatively spliced PHF1
accession_idProtein sequence
O43189-1MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLC
CVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGH
LSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKY
FDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGG
VSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRM
FASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGD
O43189-2MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLC
CVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGH
LSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKY
FDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTRAGPWGRGLTS
PGEAPEAGARAPEEEAEGESGGAGATLSSAQSARAPGAEGAGSSAEGTAAAPSGCLLPSTLLPAPQGPLGTVDPQTGHPWNFTLVSPQTS

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
PHF1 (go to UniProt):O43189

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
O43189Region333441Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=350;End=457
O43189Region455537Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=350;End=457
O43189Region455537Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=458;End=567
O43189Compositional bias365385Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=350;End=457
O43189Compositional bias413435Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=350;End=457
O43189Compositional bias489506Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=458;End=567


Gene Isoform Structures and Expression Levels for PHF1

check buttonGene structures of our canonical and alternative spliced genes of PHF1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of PHF1

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 O43189-1
3D view using mol* of O43189-2


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 O43189-1
all structure
pLDDT distribution across the protein length of O43189-2
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 O43189-1
all structure
Ramachandran plot of O43189-2
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
O43189-11.1112131.123516.9010.3950.8571.1251.1181.0161.10.93728,29,30,32,35,38,40,46,76,77,78,79,80,81,82,83,86
,89,91,92,94,110,112,113,114,118,119,120,136,137,1
38,139,142,168,169,191,192,407,408,411
O43189-21.0292351.051640.0380.4530.7310.9630.6291.0060.6260.79341,42,43,45,47,147,148,195,196,198,199,200,212,213
,214,222,223,224,225,261,262,264,265,266,267,271,2
75,276,279,280,283,284,287,334,446,448,449,450,451
,453,456

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 O43189-1_O43189-1_5xfo_A.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 O43189-1_5xfo_A_O43189-2.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 O43189-1_O43189-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/O43189-1_vs_O43189-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/O43189-1_vs_O43189-2.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 PHF1


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

Related Diseases to PHF1


check button Previous studies relating to the alternative splicing of PHF1 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in PHF1


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