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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:SETDB1

Protein Summary

check button Gene summary
Gene name: SETDB1
ASpdb.0 ID: 9869
Gene
Gene symbol

SETDB1

Gene ID

9869

Gene nameSET domain bifurcated histone lysine methyltransferase 1
SynonymsESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21
Cytomap

1q21.3

Type of geneprotein-coding
Descriptionhistone-lysine N-methyltransferase SETDB1ERG-associated protein with a SET domain, ESETSET domain bifurcated 1histone H3-K9 methyltransferase 4histone-lysine N-methyltransferase, H3lysine-9 specific 4lysine N-methyltransferase 1Etudor domain contain
Modification date20240416
UniProtAcc

Q15047


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneSETDB1

GO:0003682

chromatin binding

27029610

GeneSETDB1

GO:0005654

nucleoplasm

-

GeneSETDB1

GO:0043231

intracellular membrane-bounded organelle

-

GeneSETDB1

GO:0046974

histone H3K9 methyltransferase activity

14536086

GeneSETDB1

GO:0140949

histone H3K9 trimethyltransferase activity

14536086

GeneSETDB1

GO:1990841

promoter-specific chromatin binding

24623306



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q15047-1Q15047-1_6bhd_A.pdb6BHDX-ray1.25A190406

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q15047SETDB1Q15047-1Q15047-21291397381397SubstitutionDDKRCEWIYRGSTRLEPVLFFSTILEAEVGGGGT381397
Q15047SETDB1Q15047-1Q15047-212913973981291Deletionnonenone397397

check buttonMultiple sequence alignment of our canonical and alternatively spliced SETDB1

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of SETDB1
UniProt-idENSGENSTENSP
Q15047-1ENSG00000143379.13ENST00000271640.9ENSP00000271640.5
Q15047-2ENSG00000143379.13ENST00000368962.6ENSP00000357958.2

UniProt-idNM IDNP ID
Q15047-1NM_001145415.1NP_001138887.1
Q15047-2NM_001243491.1NP_001230420.1

check buttonAmino acid sequences of our canonical and alternatively spliced SETDB1
accession_idProtein sequence
Q15047-1MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASRAVT
NCESLVKDFYSKLGLQYRDSSSEDESSRPTEIIEIPDEDDDVLSIDSGDAGSRTPKDQKLREAMAALRKSAQDVQKFMDAVNKKSSSQDL
HKGTLSQMSGELSKDGDLIVSMRILGKKRTKTWHKGTLIAIQTVGPGKKYKVKFDNKGKSLLSGNHIAYDYHPPADKLYVGSRVVAKYKD
GNQVWLYAGIVAETPNVKNKLRFLIFFDDGYASYVTQSELYPICRPLKKTWEDIEDISCRDFIEEYVTAYPNRPMVLLKSGQLIKTEWEG
TWWKSRVEEVDGSLVRILFLDDKRCEWIYRGSTRLEPMFSMKTSSASALEKKQGQLRTRPNMGAVRSKGPVVQYTQDLTGTGTQFKPVEP
PQPTAPPAPPFPPAPPLSPQAGDSDLESQLAQSRKQVAKKSTSFRPGSVGSGHSSPTSPALSENVSGGKPGINQTYRSPLGSTASAPAPS
ALPAPPAPPVFHGMLERAPAEPSYRAPMEKLFYLPHVCSYTCLSRVRPMRNEQYRGKNPLLVPLLYDFRRMTARRRVNRKMGFHVIYKTP
CGLCLRTMQEIERYLFETGCDFLFLEMFCLDPYVLVDRKFQPYKPFYYILDITYGKEDVPLSCVNEIDTTPPPQVAYSKERIPGKGVFIN
TGPEFLVGCDCKDGCRDKSKCACHQLTIQATACTPGGQINPNSGYQYKRLEECLPTGVYECNKRCKCDPNMCTNRLVQHGLQVRLQLFKT
QNKGWGIRCLDDIAKGSFVCIYAGKILTDDFADKEGLEMGDEYFANLDHIESVENFKEGYESDAPCSSDSSGVDLKDQEDGNSGTEDPEE
SNDDSSDDNFCKDEDFSTSSVWRSYATRRQTRGQKENGLSETTSKDSHPPDLGPPHIPVPPSIPVGGCNPPSSEETPKNKVASWLSCNSV
SEGGFADSDSHSSFKTNEGGEGRAGGSRMEAEKASTSGLGIKDEGDIKQAKKEDTDDRNKMSVVTESSRNYGYNPSPVKPEGLRRPPSKT
SMHQSRRLMASAQSNPDDVLTLSSSTESEGESGTSRKPTAGQTSATAVDSDDIQTISSGSEGDDFEDKKNMTGPMKRQVAVKSTRGFALK
STHGIAIKSTNMASVDKGESAPVRKNTRQFYDGEESCYIIDAKLEGNLGRYLNHSCSPNLFVQNVFVDTHDLRFPWVAFFASKRIRAGTE
Q15047-2MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASRAVT
NCESLVKDFYSKLGLQYRDSSSEDESSRPTEIIEIPDEDDDVLSIDSGDAGSRTPKDQKLREAMAALRKSAQDVQKFMDAVNKKSSSQDL
HKGTLSQMSGELSKDGDLIVSMRILGKKRTKTWHKGTLIAIQTVGPGKKYKVKFDNKGKSLLSGNHIAYDYHPPADKLYVGSRVVAKYKD
GNQVWLYAGIVAETPNVKNKLRFLIFFDDGYASYVTQSELYPICRPLKKTWEDIEDISCRDFIEEYVTAYPNRPMVLLKSGQLIKTEWEG

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
SETDB1 (go to UniProt):Q15047

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
Q15047Domain347403Note=Tudor 2Type=Substitution;Start=381;End=397
Q15047Domain347403Note=Tudor 2Type=Deletion;Start=398;End=1291
Q15047Domain594665Note=MBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00338Type=Deletion;Start=398;End=1291
Q15047Domain727800Note=Pre-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00157Type=Deletion;Start=398;End=1291
Q15047Domain8031266Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190Type=Deletion;Start=398;End=1291
Q15047Domain12751291Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155Type=Deletion;Start=398;End=1291
Q15047Region404545Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Region8681160Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias432448Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias449469Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias472535Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias893910Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias915947Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias951967Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias9721007Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias10341053Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291
Q15047Compositional bias10781140Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=398;End=1291


Gene Isoform Structures and Expression Levels for SETDB1

check buttonGene structures of our canonical and alternative spliced genes of SETDB1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of SETDB1

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 Q15047-1
3D view using mol* of Q15047-2


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 Q15047-1
all structure
pLDDT distribution across the protein length of Q15047-2
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 Q15047-1
all structure
Ramachandran plot of Q15047-2
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
Q15047-11.062121.09635.9220.5860.7560.9790.7280.9310.7820.986296,300,301,302,328,329,331,332,333,335,336,339,34
2,343,344,357,358,359,360,362,386,387,388,389,391,
392,393,394,398,399,401,402,405,432,434,1139,1140,
1141,1142,1143,1144,1145,1284
Q15047-21.0292811.0691086.6240.640.6960.860.6840.8850.7740.963111,114,115,118,119,120,122,123,125,283,284,286,28
7,288,289,292,294,296,300,301,302,303,304,329,332,
333,335,336,339,340,341,342,343,344,345,346,347,34
8,354,355,356,357,362,369,370,371,372,373,374,375,
376,377,389,390,391,392,393,394,395,396,397

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 Q15047-1_Q15047-1_6bhd_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 Q15047-1_6bhd_A_Q15047-2.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 Q15047-1_Q15047-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q15047-1_vs_Q15047-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q15047-1_vs_Q15047-2.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 SETDB1


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

Related Diseases to SETDB1


check button Previous studies relating to the alternative splicing of SETDB1 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in SETDB1


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