UniProtKB - Q01105 (SET_HUMAN)
Protein SET
SET
Functioni
GO - Molecular functioni
- chromatin binding Source: GO_Central
- DNA binding Source: UniProtKB-KW
- histone binding Source: GO_Central
- protein phosphatase inhibitor activity Source: ProtInc
- protein phosphatase regulator activity Source: UniProtKB
GO - Biological processi
- DNA replication Source: ProtInc
- negative regulation of histone acetylation Source: UniProtKB
- negative regulation of neuron apoptotic process Source: MGI
- negative regulation of transcription, DNA-templated Source: UniProtKB
- nucleosome assembly Source: ProtInc
- nucleosome disassembly Source: UniProtKB
- regulation of mRNA stability Source: Reactome
- viral process Source: UniProtKB-KW
Keywordsi
Molecular function | Chaperone, DNA-binding |
Biological process | Host-virus interaction |
Enzyme and pathway databases
PathwayCommonsi | Q01105 |
Reactomei | R-HSA-2299718, Condensation of Prophase Chromosomes R-HSA-450520, HuR (ELAVL1) binds and stabilizes mRNA |
SIGNORi | Q01105 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein SETAlternative name(s): HLA-DR-associated protein II Inhibitor of granzyme A-activated DNase Short name: IGAAD PHAPII Phosphatase 2A inhibitor I2PP2A Short name: I-2PP2A Template-activating factor I Short name: TAF-I |
Gene namesi | Name:SET |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10760, SET |
MIMi | 600960, gene |
neXtProti | NX_Q01105 |
VEuPathDBi | HostDB:ENSG00000119335.16 |
Subcellular locationi
Nucleus
Endoplasmic reticulum
Cytosol
Note: In the cytoplasm, found both in the cytosol and associated with the endoplasmic reticulum. The SET complex is associated with the endoplasmic reticulum. Following CTL attack and cleavage by GZMA, moves rapidly to the nucleus, where it is found in the nucleoplasm, avoiding the nucleolus. Similar translocation to the nucleus is also observed for lymphocyte-activated killer cells after the addition of calcium.
Cytosol
- cytosol Source: UniProtKB-SubCell
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- lipid droplet Source: HPA
- perinuclear region of cytoplasm Source: UniProtKB
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, NucleusPathology & Biotechi
Involvement in diseasei
Mental retardation, autosomal dominant 58 (MRD58)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081147 | 95 | W → G in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1554776500Ensembl. | 1 | |
Natural variantiVAR_081148 | 118 | H → Y in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1564360978Ensembl. | 1 | |
Natural variantiVAR_078653 | 233 – 290 | Missing in MRD58. 1 PublicationAdd BLAST | 58 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 283 – 284 | Breakpoint for translocation to form SET-CAN oncogene | 2 |
Keywords - Diseasei
Disease variant, Mental retardation, Proto-oncogeneOrganism-specific databases
DisGeNETi | 6418 |
MalaCardsi | SET |
MIMi | 618106, phenotype |
OpenTargetsi | ENSG00000119335 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 99861, Precursor T-cell acute lymphoblastic leukemia |
PharmGKBi | PA35678 |
Miscellaneous databases
Pharosi | Q01105, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295798 |
Genetic variation databases
BioMutai | SET |
DMDMi | 46397790 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000185662 | 2 – 290 | Protein SETAdd BLAST | 289 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 2 | N,N,N-trimethylalanineBy similarity | 1 | ||
Modified residuei | 7 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 28 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 63 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 68 | N6-acetyllysineBy similarity | 1 | ||
Modified residuei | 146 | PhosphotyrosineBy similarity | 1 | ||
Modified residuei | 150 | N6-acetyllysineCombined sources | 1 | ||
Cross-linki | 154 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) | |||
Modified residuei | 172 | N6-acetyllysineCombined sources | 1 | ||
Isoform 2 (identifier: Q01105-2) | |||||
Modified residuei | 11 | N6-acetyllysineCombined sources | 1 | ||
Modified residuei | 15 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 24 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q01105 |
jPOSTi | Q01105 |
MassIVEi | Q01105 |
PaxDbi | Q01105 |
PeptideAtlasi | Q01105 |
PRIDEi | Q01105 |
ProteomicsDBi | 1156 57917 [Q01105-1] 57918 [Q01105-2] 65617 |
TopDownProteomicsi | Q01105-1 [Q01105-1] Q01105-2 [Q01105-2] |
PTM databases
iPTMneti | Q01105 |
PhosphoSitePlusi | Q01105 |
SwissPalmi | Q01105 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000119335, Expressed in substantia nigra and 250 other tissues |
ExpressionAtlasi | Q01105, baseline and differential |
Genevisiblei | Q01105, HS |
Organism-specific databases
HPAi | ENSG00000119335, Low tissue specificity |
Interactioni
Subunit structurei
Headphone-shaped homodimer. Isoforms 1 and 2 interact directly with each other and with ANP32A within the tripartite INHAT (inhibitor of acetyltransferases) complex. Isoform 1 and isoform 2 interact also with histones. Isoform 2 is a component of the SET complex, composed of at least ANP32A, APEX1, HMGB2, NME1, SET and TREX1, but not NME2 or TREX2. Within this complex, directly interacts with ANP32A, NME1, HMGB2 and TREX1; the interaction with ANP32A is enhanced after cleavage.
Interacts with APBB1, CHTOP, SETBP1, SGO1.
8 Publications(Microbial infection) Interacts with herpes simplex virus 1 VP22.
1 PublicationBinary interactionsi
Hide detailsQ01105
Isoform 2 [Q01105-2]
GO - Molecular functioni
- histone binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 112316, 177 interactors |
CORUMi | Q01105 |
DIPi | DIP-33561N |
IntActi | Q01105, 151 interactors |
MINTi | Q01105 |
STRINGi | 9606.ENSP00000361777 |
Miscellaneous databases
RNActi | Q01105, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q01105 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q01105 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 31 – 78 | DimerizationAdd BLAST | 48 | |
Regioni | 79 – 225 | Earmuff domainAdd BLAST | 147 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 239 – 290 | Asp/Glu-rich (highly acidic)Add BLAST | 52 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1508, Eukaryota |
GeneTreei | ENSGT00940000154891 |
HOGENOMi | CLU_051687_4_0_1 |
InParanoidi | Q01105 |
OMAi | LWPGAIK |
OrthoDBi | 1191764at2759 |
PhylomeDBi | Q01105 |
TreeFami | TF313386 |
Family and domain databases
InterProi | View protein in InterPro IPR037231, NAP-like_sf IPR002164, NAP_family |
PANTHERi | PTHR11875, PTHR11875, 1 hit |
Pfami | View protein in Pfam PF00956, NAP, 1 hit |
SUPFAMi | SSF143113, SSF143113, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPKRQSPLP PQKKKPRPPP ALGPEETSAS AGLPKKGEKE QQEAIEHIDE
60 70 80 90 100
VQNEIDRLNE QASEEILKVE QKYNKLRQPF FQKRSELIAK IPNFWVTTFV
110 120 130 140 150
NHPQVSALLG EEDEEALHYL TRVEVTEFED IKSGYRIDFY FDENPYFENK
160 170 180 190 200
VLSKEFHLNE SGDPSSKSTE IKWKSGKDLT KRSSQTQNKA SRKRQHEEPE
210 220 230 240 250
SFFTWFTDHS DAGADELGEV IKDDIWPNPL QYYLVPDMDD EEGEGEEDDD
260 270 280 290
DDEEEEGLED IDEEGDEDEG EEDEDDDEGE EGEEDEGEDD
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0C4DFV9 | A0A0C4DFV9_HUMAN | Protein SET | SET | 266 | Annotation score: | ||
B2REB7 | B2REB7_HUMAN | Protein SET | SET | 32 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_081147 | 95 | W → G in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1554776500Ensembl. | 1 | ||
Natural variantiVAR_081148 | 118 | H → Y in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1564360978Ensembl. | 1 | ||
Natural variantiVAR_078653 | 233 – 290 | Missing in MRD58. 1 PublicationAdd BLAST | 58 | ||
Isoform 2 (identifier: Q01105-2) | |||||
Natural variantiVAR_082865 | 4 | P → QCuratedCorresponds to variant dbSNP:rs1141138Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009868 | 1 – 37 | MAPKR…LPKKG → MSAPAAKVSKKELNSNHDGA DETS in isoform 2. 9 PublicationsAdd BLAST | 37 | |
Alternative sequenceiVSP_045175 | 1 – 37 | MAPKR…LPKKG → MPRSHQPPPPPH in isoform 3. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_046741 | 1 – 37 | MAPKR…LPKKG → MGCRDLLPSLKPTLL in isoform 4. CuratedAdd BLAST | 37 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M93651 mRNA Translation: AAA60318.1 X75091 mRNA Translation: CAA52982.1 D45198 mRNA Translation: BAA08139.1 U51924 mRNA Translation: AAC50460.1 AY349172 mRNA Translation: AAQ79833.1 CR536543 mRNA Translation: CAG38780.1 CR542050 mRNA Translation: CAG46847.1 AK223556 mRNA Translation: BAD97276.1 AK300609 mRNA Translation: BAG62304.1 AL356481 Genomic DNA No translation available. AL359678 Genomic DNA No translation available. BC032749 mRNA Translation: AAH32749.1 EF534308 mRNA Translation: ABP96841.1 |
CCDSi | CCDS48037.1 [Q01105-1] CCDS59149.1 [Q01105-4] CCDS6907.1 [Q01105-2] |
PIRi | A57984, A45018 I59377 |
RefSeqi | NP_001116293.1, NM_001122821.1 [Q01105-1] NP_001234929.1, NM_001248000.1 [Q01105-4] NP_001234930.1, NM_001248001.1 NP_003002.2, NM_003011.3 [Q01105-2] |
Genome annotation databases
Ensembli | ENST00000322030; ENSP00000318012; ENSG00000119335 [Q01105-2] ENST00000372686; ENSP00000361771; ENSG00000119335 [Q01105-3] ENST00000372692; ENSP00000361777; ENSG00000119335 [Q01105-1] ENST00000409104; ENSP00000387321; ENSG00000119335 [Q01105-4] |
GeneIDi | 6418 |
KEGGi | hsa:6418 |
UCSCi | uc004bvu.5, human [Q01105-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M93651 mRNA Translation: AAA60318.1 X75091 mRNA Translation: CAA52982.1 D45198 mRNA Translation: BAA08139.1 U51924 mRNA Translation: AAC50460.1 AY349172 mRNA Translation: AAQ79833.1 CR536543 mRNA Translation: CAG38780.1 CR542050 mRNA Translation: CAG46847.1 AK223556 mRNA Translation: BAD97276.1 AK300609 mRNA Translation: BAG62304.1 AL356481 Genomic DNA No translation available. AL359678 Genomic DNA No translation available. BC032749 mRNA Translation: AAH32749.1 EF534308 mRNA Translation: ABP96841.1 |
CCDSi | CCDS48037.1 [Q01105-1] CCDS59149.1 [Q01105-4] CCDS6907.1 [Q01105-2] |
PIRi | A57984, A45018 I59377 |
RefSeqi | NP_001116293.1, NM_001122821.1 [Q01105-1] NP_001234929.1, NM_001248000.1 [Q01105-4] NP_001234930.1, NM_001248001.1 NP_003002.2, NM_003011.3 [Q01105-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2E50 | X-ray | 2.30 | A/B/P/Q | 38-238 | [»] | |
SMRi | Q01105 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112316, 177 interactors |
CORUMi | Q01105 |
DIPi | DIP-33561N |
IntActi | Q01105, 151 interactors |
MINTi | Q01105 |
STRINGi | 9606.ENSP00000361777 |
Chemistry databases
ChEMBLi | CHEMBL4295798 |
PTM databases
iPTMneti | Q01105 |
PhosphoSitePlusi | Q01105 |
SwissPalmi | Q01105 |
Genetic variation databases
BioMutai | SET |
DMDMi | 46397790 |
Proteomic databases
EPDi | Q01105 |
jPOSTi | Q01105 |
MassIVEi | Q01105 |
PaxDbi | Q01105 |
PeptideAtlasi | Q01105 |
PRIDEi | Q01105 |
ProteomicsDBi | 1156 57917 [Q01105-1] 57918 [Q01105-2] 65617 |
TopDownProteomicsi | Q01105-1 [Q01105-1] Q01105-2 [Q01105-2] |
Protocols and materials databases
Antibodypediai | 3931, 359 antibodies |
DNASUi | 6418 |
Genome annotation databases
Ensembli | ENST00000322030; ENSP00000318012; ENSG00000119335 [Q01105-2] ENST00000372686; ENSP00000361771; ENSG00000119335 [Q01105-3] ENST00000372692; ENSP00000361777; ENSG00000119335 [Q01105-1] ENST00000409104; ENSP00000387321; ENSG00000119335 [Q01105-4] |
GeneIDi | 6418 |
KEGGi | hsa:6418 |
UCSCi | uc004bvu.5, human [Q01105-1] |
Organism-specific databases
CTDi | 6418 |
DisGeNETi | 6418 |
GeneCardsi | SET |
HGNCi | HGNC:10760, SET |
HPAi | ENSG00000119335, Low tissue specificity |
MalaCardsi | SET |
MIMi | 600960, gene 618106, phenotype |
neXtProti | NX_Q01105 |
OpenTargetsi | ENSG00000119335 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 99861, Precursor T-cell acute lymphoblastic leukemia |
PharmGKBi | PA35678 |
VEuPathDBi | HostDB:ENSG00000119335.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1508, Eukaryota |
GeneTreei | ENSGT00940000154891 |
HOGENOMi | CLU_051687_4_0_1 |
InParanoidi | Q01105 |
OMAi | LWPGAIK |
OrthoDBi | 1191764at2759 |
PhylomeDBi | Q01105 |
TreeFami | TF313386 |
Enzyme and pathway databases
PathwayCommonsi | Q01105 |
Reactomei | R-HSA-2299718, Condensation of Prophase Chromosomes R-HSA-450520, HuR (ELAVL1) binds and stabilizes mRNA |
SIGNORi | Q01105 |
Miscellaneous databases
BioGRID-ORCSi | 6418, 148 hits in 879 CRISPR screens |
ChiTaRSi | SET, human |
EvolutionaryTracei | Q01105 |
GeneWikii | Protein_SET |
GenomeRNAii | 6418 |
Pharosi | Q01105, Tbio |
PROi | PR:Q01105 |
RNActi | Q01105, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119335, Expressed in substantia nigra and 250 other tissues |
ExpressionAtlasi | Q01105, baseline and differential |
Genevisiblei | Q01105, HS |
Family and domain databases
InterProi | View protein in InterPro IPR037231, NAP-like_sf IPR002164, NAP_family |
PANTHERi | PTHR11875, PTHR11875, 1 hit |
Pfami | View protein in Pfam PF00956, NAP, 1 hit |
SUPFAMi | SSF143113, SSF143113, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SET_HUMAN | |
Accessioni | Q01105Primary (citable) accession number: Q01105 Secondary accession number(s): A5A5H4 Q6FHZ5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | April 13, 2004 | |
Last modified: | February 10, 2021 | |
This is version 211 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM