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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:PHF8

Protein Summary

check button Gene summary
Gene name: PHF8
ASpdb.0 ID: 23133
Gene
Gene symbol

PHF8

Gene ID

23133

Gene namePHD finger protein 8
SynonymsJHDM1F|KDM7B|MRXSSD|ZNF422
Cytomap

Xp11.22

Type of geneprotein-coding
Descriptionhistone lysine demethylase PHF8[histone H3]-dimethyl-L-lysine(36) demethylase PHF8[histone H3]-dimethyl-L-lysine(9) demethylase PHF8jumonji C domain-containing histone demethylase 1Flysine demethylase 7Bzinc finger protein 422
Modification date20240403
UniProtAcc

Q9UPP1


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GenePHF8

GO:0003682

chromatin binding

20622854

GenePHF8

GO:0005506

iron ion binding

20023638

GenePHF8

GO:0005634

nucleus

19843542|31691806

GenePHF8

GO:0005654

nucleoplasm

-

GenePHF8

GO:0005730

nucleolus

20208542

GenePHF8

GO:0008270

zinc ion binding

20023638

GenePHF8

GO:0016706

2-oxoglutarate-dependent dioxygenase activity

20023638

GenePHF8

GO:0031965

nuclear membrane

-

GenePHF8

GO:0032452

histone demethylase activity

19843542

GenePHF8

GO:0032454

histone H3K9 demethylase activity

20023638|20208542|20346720|20622853|20622854

GenePHF8

GO:0035064

methylated histone binding

20023638|20208542|20346720|20622853|20622854|21029866

GenePHF8

GO:0035575

histone H4K20 demethylase activity

20622853

GenePHF8

GO:0045893

positive regulation of DNA-templated transcription

20622853

GenePHF8

GO:0045943

positive regulation of transcription by RNA polymerase I

20208542

GenePHF8

GO:0045944

positive regulation of transcription by RNA polymerase II

31691806

GenePHF8

GO:0051864

histone H3K36 demethylase activity

20208542|20622853

GenePHF8

GO:0061188

negative regulation of rDNA heterochromatin formation

20208542

GenePHF8

GO:0071558

histone H3K27me2/H3K27me3 demethylase activity

20622853|20622854



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q9UPP1-1Q9UPP1-1_3kv4_A.pdb3KV4X-ray2.19A39483

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q9UPP1PHF8Q9UPP1-1Q9UPP1-31060959478578Deletionnonenone477477
Q9UPP1PHF8Q9UPP1-1Q9UPP1-41060948136Deletionnonenone00
Q9UPP1PHF8Q9UPP1-1Q9UPP1-41060948478578Deletionnonenone441441
Q9UPP1PHF8Q9UPP1-1Q9UPP1-4106094810601060SubstitutionLLRQVIVQAECRQAIHEPKLKRRDAHP923948
Q9UPP1PHF8Q9UPP1-1Q9UPP1-51060878136Deletionnonenone00
Q9UPP1PHF8Q9UPP1-1Q9UPP1-51060878717746SubstitutionKLGNGSGAGGILDLLKASRQVGGPDYAALTYQTATPAPAQGAS681693
Q9UPP1PHF8Q9UPP1-1Q9UPP1-51060878920931SubstitutionELQKAQKKKYIKVKKMKLSLTDSG867878
Q9UPP1PHF8Q9UPP1-1Q9UPP1-510608789321060Deletionnonenone878878

check buttonMultiple sequence alignment of our canonical and alternatively spliced PHF8

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of PHF8
UniProt-idENSGENSTENSP
Q9UPP1-1ENSG00000172943.21ENST00000357988.9ENSP00000350676.5
Q9UPP1-5ENSG00000172943.21ENST00000322659.12ENSP00000319473.8

UniProt-idNM IDNP ID
Q9UPP1-1NM_001184896.1NP_001171825.1
Q9UPP1-4NM_001184897.1NP_001171826.1

check buttonAmino acid sequences of our canonical and alternatively spliced PHF8
accession_idProtein sequence
Q9UPP1-1MNRSRAIVQRGRVLPPPAPLDTTNLAGRRTLQGRAKMASVPVYCLCRLPYDVTRFMIECDMCQDWFHGSCVGVEEEKAADIDLYHCPNCE
VLHGPSIMKKRRGSSKGHDTHKGKPVKTGSPTFVRELRSRTFDSSDEVILKPTGNQLTVEFLEENSFSVPILVLKKDGLGMTLPSPSFTV
RDVEHYVGSDKEIDVIDVTRQADCKMKLGDFVKYYYSGKREKVLNVISLEFSDTRLSNLVETPKIVRKLSWVENLWPEECVFERPNVQKY
CLMSVRDSYTDFHIDFGGTSVWYHVLKGEKIFYLIRPTNANLTLFECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTP
VDCLAFGGNFLHSLNIEMQLKAYEIEKRLSTADLFRFPNFETICWYVGKHILDIFRGLRENRRHPASYLVHGGKALNLAFRAWTRKEALP
DHEDEIPETVRTVQLIKDLAREIRLVEDIFQQNVGKTSNIFGLQRIFPAGSIPLTRPAHSTSVSMSRLSLPSKNGSKKKGLKPKELFKKA
ERKGKESSALGPAGQLSYNLMDTYSHQALKTGSFQKAKFNITGACLNDSDDDSPDLDLDGNESPLALLMSNGSTKRVKSLSKSRRTKIAK
KVDKARLMAEQVMEDEFDLDSDDELQIDERLGKEKATLIIRPKFPRKLPRAKPCSDPNRVREPGEVEFDIEEDYTTDEDMVEGVEGKLGN
GSGAGGILDLLKASRQVGGPDYAALTEAPASPSTQEAIQGMLCMANLQSSSSSPATSSLQAWWTGGQDRSSGSSSSGLGTVSNSPASQRT
PGKRPIKRPAYWRTESEEEEENASLDEQDSLGACFKDAEYIYPSLESDDDDPALKSRPKKKKNSDDAPWSPKARVTPTLPKQDRPVREGT
RVASIETGLAAAAAKLAQQELQKAQKKKYIKKKPLLKEVEQPRPQDSNLSLTVPAPTVAATPQLVTSSSPLPPPEPKQEALSGSLADHEY
Q9UPP1-3MNRSRAIVQRGRVLPPPAPLDTTNLAGRRTLQGRAKMASVPVYCLCRLPYDVTRFMIECDMCQDWFHGSCVGVEEEKAADIDLYHCPNCE
VLHGPSIMKKRRGSSKGHDTHKGKPVKTGSPTFVRELRSRTFDSSDEVILKPTGNQLTVEFLEENSFSVPILVLKKDGLGMTLPSPSFTV
RDVEHYVGSDKEIDVIDVTRQADCKMKLGDFVKYYYSGKREKVLNVISLEFSDTRLSNLVETPKIVRKLSWVENLWPEECVFERPNVQKY
CLMSVRDSYTDFHIDFGGTSVWYHVLKGEKIFYLIRPTNANLTLFECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTP
VDCLAFGGNFLHSLNIEMQLKAYEIEKRLSTADLFRFPNFETICWYVGKHILDIFRGLRENRRHPASYLVHGGKALNLAFRAWTRKEALP
DHEDEIPETVRTVQLIKDLAREIRLVEFNITGACLNDSDDDSPDLDLDGNESPLALLMSNGSTKRVKSLSKSRRTKIAKKVDKARLMAEQ
VMEDEFDLDSDDELQIDERLGKEKATLIIRPKFPRKLPRAKPCSDPNRVREPGEVEFDIEEDYTTDEDMVEGVEGKLGNGSGAGGILDLL
KASRQVGGPDYAALTEAPASPSTQEAIQGMLCMANLQSSSSSPATSSLQAWWTGGQDRSSGSSSSGLGTVSNSPASQRTPGKRPIKRPAY
WRTESEEEEENASLDEQDSLGACFKDAEYIYPSLESDDDDPALKSRPKKKKNSDDAPWSPKARVTPTLPKQDRPVREGTRVASIETGLAA
AAAKLAQQELQKAQKKKYIKKKPLLKEVEQPRPQDSNLSLTVPAPTVAATPQLVTSSSPLPPPEPKQEALSGSLADHEYTARPNAFGMAQ
Q9UPP1-4MASVPVYCLCRLPYDVTRFMIECDMCQDWFHGSCVGVEEEKAADIDLYHCPNCEVLHGPSIMKKRRGSSKGHDTHKGKPVKTGSPTFVRE
LRSRTFDSSDEVILKPTGNQLTVEFLEENSFSVPILVLKKDGLGMTLPSPSFTVRDVEHYVGSDKEIDVIDVTRQADCKMKLGDFVKYYY
SGKREKVLNVISLEFSDTRLSNLVETPKIVRKLSWVENLWPEECVFERPNVQKYCLMSVRDSYTDFHIDFGGTSVWYHVLKGEKIFYLIR
PTNANLTLFECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTPVDCLAFGGNFLHSLNIEMQLKAYEIEKRLSTADLFR
FPNFETICWYVGKHILDIFRGLRENRRHPASYLVHGGKALNLAFRAWTRKEALPDHEDEIPETVRTVQLIKDLAREIRLVEFNITGACLN
DSDDDSPDLDLDGNESPLALLMSNGSTKRVKSLSKSRRTKIAKKVDKARLMAEQVMEDEFDLDSDDELQIDERLGKEKATLIIRPKFPRK
LPRAKPCSDPNRVREPGEVEFDIEEDYTTDEDMVEGVEGKLGNGSGAGGILDLLKASRQVGGPDYAALTEAPASPSTQEAIQGMLCMANL
QSSSSSPATSSLQAWWTGGQDRSSGSSSSGLGTVSNSPASQRTPGKRPIKRPAYWRTESEEEEENASLDEQDSLGACFKDAEYIYPSLES
DDDDPALKSRPKKKKNSDDAPWSPKARVTPTLPKQDRPVREGTRVASIETGLAAAAAKLAQQELQKAQKKKYIKKKPLLKEVEQPRPQDS
NLSLTVPAPTVAATPQLVTSSSPLPPPEPKQEALSGSLADHEYTARPNAFGMAQANRSTTPMAPGVFLTQRRPSVGSQSNQAGQGKRPKK
Q9UPP1-5MASVPVYCLCRLPYDVTRFMIECDMCQDWFHGSCVGVEEEKAADIDLYHCPNCEVLHGPSIMKKRRGSSKGHDTHKGKPVKTGSPTFVRE
LRSRTFDSSDEVILKPTGNQLTVEFLEENSFSVPILVLKKDGLGMTLPSPSFTVRDVEHYVGSDKEIDVIDVTRQADCKMKLGDFVKYYY
SGKREKVLNVISLEFSDTRLSNLVETPKIVRKLSWVENLWPEECVFERPNVQKYCLMSVRDSYTDFHIDFGGTSVWYHVLKGEKIFYLIR
PTNANLTLFECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTPVDCLAFGGNFLHSLNIEMQLKAYEIEKRLSTADLFR
FPNFETICWYVGKHILDIFRGLRENRRHPASYLVHGGKALNLAFRAWTRKEALPDHEDEIPETVRTVQLIKDLAREIRLVEDIFQQNVGK
TSNIFGLQRIFPAGSIPLTRPAHSTSVSMSRLSLPSKNGSKKKGLKPKELFKKAERKGKESSALGPAGQLSYNLMDTYSHQALKTGSFQK
AKFNITGACLNDSDDDSPDLDLDGNESPLALLMSNGSTKRVKSLSKSRRTKIAKKVDKARLMAEQVMEDEFDLDSDDELQIDERLGKEKA
TLIIRPKFPRKLPRAKPCSDPNRVREPGEVEFDIEEDYTTDEDMVEGVEGYQTATPAPAQGASEAPASPSTQEAIQGMLCMANLQSSSSS
PATSSLQAWWTGGQDRSSGSSSSGLGTVSNSPASQRTPGKRPIKRPAYWRTESEEEEENASLDEQDSLGACFKDAEYIYPSLESDDDDPA

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
PHF8 (go to UniProt):Q9UPP1

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
Q9UPP1Region508534Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=478;End=578
Q9UPP1Region508534Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=478;End=578
Q9UPP1Region9151046Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=920;End=931
Q9UPP1Region9151046Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=932;End=1060
Q9UPP1Compositional bias508523Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=478;End=578
Q9UPP1Compositional bias508523Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=478;End=578
Q9UPP1Compositional bias943966Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=932;End=1060
Q9UPP1Compositional bias9981032Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=932;End=1060


Gene Isoform Structures and Expression Levels for PHF8

check buttonGene structures of our canonical and alternative spliced genes of PHF8
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of PHF8

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 Q9UPP1-1
3D view using mol* of Q9UPP1-3
3D view using mol* of Q9UPP1-4
3D view using mol* of Q9UPP1-5


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 Q9UPP1-1
all structure
pLDDT distribution across the protein length of Q9UPP1-3
all structure
pLDDT distribution across the protein length of Q9UPP1-4
all structure
pLDDT distribution across the protein length of Q9UPP1-5
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 Q9UPP1-1
all structure
Ramachandran plot of Q9UPP1-3
all structure
Ramachandran plot of Q9UPP1-4
all structure
Ramachandran plot of Q9UPP1-5
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
Q9UPP1-11.0794791.0831042.0340.4150.8161.0410.6781.0630.6381.1967,8,9,10,11,13,14,15,16,118,191,192,193,194,225,22
7,228,229,230,232,233,241,242,247,252,253,263,264,
265,266,267,268,269,270,272,278,279,280,281,282,28
3,284,285,286,291,293,300,302,315,318,319,324,325,
349,355,357,359,367,368,369,382,383,385,386,387,38
9,391,393,394,395,396,397,398,399,400,401,452,455

Q9UPP1-31.0363611.0581379.5460.6040.7410.9120.5191.0020.5181.0423,4,6,8,10,55,75,76,78,79,81,82,99,111,114,115,116
,117,118,120,121,122,191,192,193,194,196,197,199,2
00,201,202,203,204,205,225,226,227,228,229,230,233
,263,264,265,266,267,270,272,274,278,279,280,281,2
82,283,284,285,286,291,293,300,302,315,318,319,322
,323,324,325,355,357,359,367,368,369,385,386,389,3
91,393,394,395,396,398,399
Q9UPP1-41.0526151.0872199.3160.580.7360.8960.6030.9040.6671.2134,5,7,13,14,15,16,17,18,19,20,21,22,24,29,38,39,40
,41,42,43,44,45,46,47,48,63,64,65,66,77,78,79,80,8
1,82,84,86,155,156,157,158,160,163,164,165,166,167
,189,191,192,193,194,231,234,236,244,245,246,247,2
48,249,250,251,252,255,257,264,266,279,282,283,284
,285,286,287,288,289,290,291,313,319,321,331,332,3
33,346,347,349,350,351,353,354,355,356,357,358,359
,360,361,362,363,364,365,416,419
Q9UPP1-51.0873391.1341503.7120.6360.7610.8590.6840.8080.8471.14,5,7,13,14,15,16,18,19,20,27,29,39,82,155,156,157
,158,160,165,166,167,169,189,190,191,192,193,194,1
97,231,234,236,242,243,244,245,246,247,248,249,250
,251,252,255,257,264,266,279,282,283,285,288,289,3
13,319,321,323,331,332,333,346,347,349,350,351,353
,354,355,356,357,358,359,360,361,362,363,364,419

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 Q9UPP1-1_Q9UPP1-1_3kv4_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 Q9UPP1-1_3kv4_A_Q9UPP1-3.pdb
3D view using mol* of Q9UPP1-1_3kv4_A_Q9UPP1-4.pdb
3D view using mol* of Q9UPP1-1_3kv4_A_Q9UPP1-5.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 Q9UPP1-1_Q9UPP1-3.pdb
3D view using mol* of Q9UPP1-1_Q9UPP1-4.pdb
3D view using mol* of Q9UPP1-1_Q9UPP1-5.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q9UPP1-1_vs_Q9UPP1-3.png
all structure<
./stats/secondary_structure/figure/Q9UPP1-1_vs_Q9UPP1-4.png
all structure<
./stats/secondary_structure/figure/Q9UPP1-1_vs_Q9UPP1-5.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q9UPP1-1_vs_Q9UPP1-3.png
all structure<
./stats/relative_asa/Q9UPP1-1_vs_Q9UPP1-4.png
all structure<
./stats/relative_asa/Q9UPP1-1_vs_Q9UPP1-5.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 PHF8


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

Related Diseases to PHF8


check button Previous studies relating to the alternative splicing of PHF8 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in PHF8


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance
Q9UPP1Q9UPP1-1PHF8single nucleotide variantp.Arg3SerUncertain significance
Q9UPP1Q9UPP1-1PHF8single nucleotide variantp.Arg3SerUncertain significance