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UniProtKB - Q01105 (SET_HUMAN)

Entry version 209 (07 Oct 2020)
Sequence version 3 (13 Apr 2004)
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Protein

Protein SET

Gene

SET

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone, DNA-binding
Biological processHost-virus interaction

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q01105

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2299718, Condensation of Prophase Chromosomes
R-HSA-450520, HuR (ELAVL1) binds and stabilizes mRNA

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q01105

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein SET
Alternative 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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SET
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000119335.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:10760, SET

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600960, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q01105

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving SET is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with NUP214/CAN.
Mental retardation, autosomal dominant 58 (MRD58)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD58 is characterized by delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08114795W → G in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1554776500Ensembl.1
Natural variantiVAR_081148118H → Y in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1564360978Ensembl.1
Natural variantiVAR_078653233 – 290Missing in MRD58. 1 PublicationAdd BLAST58

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei283 – 284Breakpoint for translocation to form SET-CAN oncogene2

Keywords - Diseasei

Disease mutation, Mental retardation, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		6418

MalaCards human disease database

More...MalaCardsi		SET
MIMi618106, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119335

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		178469, Autosomal dominant non-syndromic intellectual disability
99861, Precursor T-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35678

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q01105, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4295798

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SET

Domain mapping of disease mutations (DMDM)

More...DMDMi		46397790

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001856622 – 290Protein SETAdd BLAST289

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N,N,N-trimethylalanineBy similarity1
Modified residuei7PhosphoserineCombined sources1
Modified residuei28PhosphoserineCombined sources1
Modified residuei63PhosphoserineCombined sources1
Modified residuei68N6-acetyllysineBy similarity1
Modified residuei146PhosphotyrosineBy similarity1
Modified residuei150N6-acetyllysineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki154Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Modified residuei172N6-acetyllysineCombined sources1
Isoform 2 (identifier: Q01105-2)
Modified residuei11N6-acetyllysineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei24PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Isoform 2 is phosphorylated on Ser-15 and Ser-24.
Isoform 2 is acetylated on Lys-11.
Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity).By similarity
N-terminus of isoform 1 is methylated by METTL11A/NTM1. Mainly trimethylated (By similarity).By similarity
Cleaved after Lys-176 by GZMA. The cleavage inhibits its nucleosome assembly activity and disrupts the inhibition on NME1.3 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q01105

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q01105

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q01105

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q01105

PeptideAtlas

More...PeptideAtlasi		Q01105

PRoteomics IDEntifications database

More...PRIDEi		Q01105

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		1156
57917 [Q01105-1]
57918 [Q01105-2]
65617

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q01105-1 [Q01105-1]
Q01105-2 [Q01105-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q01105

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q01105

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q01105

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Low levels in quiescent cells during serum starvation, contact inhibition or differentiation. Highly expressed in Wilms' tumor.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119335, Expressed in substantia nigra and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q01105, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q01105, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119335, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112316, 170 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q01105

Database of interacting proteins

More...DIPi		DIP-33561N

Protein interaction database and analysis system

More...IntActi		Q01105, 124 interactors

Molecular INTeraction database

More...MINTi		Q01105

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361777

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q01105, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1290
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q01105

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q01105

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni31 – 78DimerizationAdd BLAST48
Regioni79 – 225Earmuff domainAdd BLAST147

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi239 – 290Asp/Glu-rich (highly acidic)Add BLAST52

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A long alpha helix in the N-terminus mediates dimerization, while the earmuff domain is responsible for core histone and dsDNA binding. The C-terminal acidic domain mediates the inhibition of histone acetyltransferases and is required for the DNA replication stimulatory activity.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the nucleosome assembly protein (NAP) family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1508, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154891

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_051687_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q01105

KEGG Orthology (KO)

More...KOi		K11290

Identification of Orthologs from Complete Genome Data

More...OMAi		LWPGAIK

Database of Orthologous Groups

More...OrthoDBi		1191764at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q01105

TreeFam database of animal gene trees

More...TreeFami		TF313386

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037231, NAP-like_sf
IPR002164, NAP_family

The PANTHER Classification System

More...PANTHERi		PTHR11875, PTHR11875, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00956, NAP, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF143113, SSF143113, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q01105-1) [UniParc]FASTAAdd to basket
Also known as: TAF-I alpha

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:290
Mass (Da):33,489
Last modified:April 13, 2004 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF4664118171EF230
GO
Isoform 2 (identifier: Q01105-2) [UniParc]FASTAAdd to basket
Also known as: TAF-I beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MAPKRQSPLPPQKKKPRPPPALGPEETSASAGLPKKG → MSAPAAKVSKKELNSNHDGADETS

Show »
Length:277
Mass (Da):32,103
Checksum:i52A6F516686010CE
GO
Isoform 3 (identifier: Q01105-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MAPKRQSPLPPQKKKPRPPPALGPEETSASAGLPKKG → MPRSHQPPPPPH

Show »
Length:265
Mass (Da):30,993
Checksum:iA9B69B63736E06F4
GO
Isoform 4 (identifier: Q01105-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MAPKRQSPLPPQKKKPRPPPALGPEETSASAGLPKKG → MGCRDLLPSLKPTLL

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Length:268
Mass (Da):31,272
Checksum:i6A34101DDEDA4B02
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFV9A0A0C4DFV9_HUMAN
Protein SET
SET
266Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B2REB7B2REB7_HUMAN
Protein SET
SET
32Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08114795W → G in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1554776500Ensembl.1
Natural variantiVAR_081148118H → Y in MRD58. 1 PublicationCorresponds to variant dbSNP:rs1564360978Ensembl.1
Natural variantiVAR_078653233 – 290Missing in MRD58. 1 PublicationAdd BLAST58
Isoform 2 (identifier: Q01105-2)
Natural variantiVAR_0828654P → QCuratedCorresponds to variant dbSNP:rs1141138Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0098681 – 37MAPKR…LPKKG → MSAPAAKVSKKELNSNHDGA DETS in isoform 2. 9 PublicationsAdd BLAST37
Alternative sequenceiVSP_0451751 – 37MAPKR…LPKKG → MPRSHQPPPPPH in isoform 3. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_0467411 – 37MAPKR…LPKKG → MGCRDLLPSLKPTLL in isoform 4. CuratedAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS48037.1 [Q01105-1]
CCDS59149.1 [Q01105-4]
CCDS6907.1 [Q01105-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A57984, A45018
I59377

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000322030; ENSP00000318012; ENSG00000119335 [Q01105-2]
ENST00000372686; ENSP00000361771; ENSG00000119335 [Q01105-3]
ENST00000372692; ENSP00000361777; ENSG00000119335 [Q01105-1]
ENST00000409104; ENSP00000387321; ENSG00000119335 [Q01105-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6418

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6418

UCSC genome browser

More...UCSCi		uc004bvu.5, human [Q01105-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS48037.1 [Q01105-1]
CCDS59149.1 [Q01105-4]
CCDS6907.1 [Q01105-2]
PIRiA57984, A45018
I59377
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E50X-ray2.30A/B/P/Q38-238[»]
SMRiQ01105
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112316, 170 interactors
CORUMiQ01105
DIPiDIP-33561N
IntActiQ01105, 124 interactors
MINTiQ01105
STRINGi9606.ENSP00000361777

Chemistry databases

ChEMBLiCHEMBL4295798

PTM databases

iPTMnetiQ01105
PhosphoSitePlusiQ01105
SwissPalmiQ01105

Polymorphism and mutation databases

BioMutaiSET
DMDMi46397790

Proteomic databases

EPDiQ01105
jPOSTiQ01105
MassIVEiQ01105
PaxDbiQ01105
PeptideAtlasiQ01105
PRIDEiQ01105
ProteomicsDBi1156
57917 [Q01105-1]
57918 [Q01105-2]
65617
TopDownProteomicsiQ01105-1 [Q01105-1]
Q01105-2 [Q01105-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3931, 359 antibodies

The DNASU plasmid repository

More...DNASUi		6418

Genome annotation databases

EnsembliENST00000322030; ENSP00000318012; ENSG00000119335 [Q01105-2]
ENST00000372686; ENSP00000361771; ENSG00000119335 [Q01105-3]
ENST00000372692; ENSP00000361777; ENSG00000119335 [Q01105-1]
ENST00000409104; ENSP00000387321; ENSG00000119335 [Q01105-4]
GeneIDi6418
KEGGihsa:6418
UCSCiuc004bvu.5, human [Q01105-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6418
DisGeNETi6418
EuPathDBiHostDB:ENSG00000119335.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		SET
HGNCiHGNC:10760, SET
HPAiENSG00000119335, Low tissue specificity
MalaCardsiSET
MIMi600960, gene
618106, phenotype
neXtProtiNX_Q01105
OpenTargetsiENSG00000119335
Orphaneti178469, Autosomal dominant non-syndromic intellectual disability
99861, Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA35678

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1508, Eukaryota
GeneTreeiENSGT00940000154891
HOGENOMiCLU_051687_4_0_1
InParanoidiQ01105
KOiK11290
OMAiLWPGAIK
OrthoDBi1191764at2759
PhylomeDBiQ01105
TreeFamiTF313386

Enzyme and pathway databases

PathwayCommonsiQ01105
ReactomeiR-HSA-2299718, Condensation of Prophase Chromosomes
R-HSA-450520, HuR (ELAVL1) binds and stabilizes mRNA
SIGNORiQ01105

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6418, 147 hits in 876 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SET, human
EvolutionaryTraceiQ01105

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Protein_SET

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6418
PharosiQ01105, Tbio

Protein Ontology

More...PROi		PR:Q01105
RNActiQ01105, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119335, Expressed in substantia nigra and 250 other tissues
ExpressionAtlasiQ01105, baseline and differential
GenevisibleiQ01105, HS

Family and domain databases

InterProiView protein in InterPro
IPR037231, NAP-like_sf
IPR002164, NAP_family
PANTHERiPTHR11875, PTHR11875, 1 hit
PfamiView protein in Pfam
PF00956, NAP, 1 hit
SUPFAMiSSF143113, SSF143113, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSET_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01105
Secondary accession number(s): A5A5H4
, A6NGV1, B4DUE2, Q15541, Q5VXV1, Q5VXV2, Q6FHZ5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 13, 2004
Last modified: October 7, 2020
This is version 209 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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