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Entry version 154 (18 Sep 2019)
Sequence version 3 (20 Apr 2010)
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Protein

SET-binding protein

Gene

SETBP1

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi584 – 596A.T hook 1Add BLAST13
DNA bindingi1016 – 1028A.T hook 2Add BLAST13
DNA bindingi1451 – 1463A.T hook 3Add BLAST13

<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

<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 functionDNA-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9Y6X0

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q9Y6X0 Predicted

<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_and_taxonomy_section">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:
SET-binding protein
Short name:
SEB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SETBP1
Synonyms:KIAA0437
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 18

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:15573 SETBP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611060 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y6X0

<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

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

Schinzel-Giedion midface retraction syndrome (SGMFS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.
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_063806868D → A in SGMFS. 1 PublicationCorresponds to variant dbSNP:rs267607041EnsemblClinVar.1
Natural variantiVAR_063807868D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs267607042EnsemblClinVar.1
Natural variantiVAR_063808870G → D in SGMFS. 2 PublicationsCorresponds to variant dbSNP:rs267607039EnsemblClinVar.1
Natural variantiVAR_063809870G → S in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other myeloid malignancies; results in higher protein levels; cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. 4 PublicationsCorresponds to variant dbSNP:rs267607040EnsemblClinVar.1
Natural variantiVAR_063810871I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 PublicationsCorresponds to variant dbSNP:rs267607038EnsemblClinVar.1
SETBP1 somatic mutations are frequently found in myeloid malignancies. They cause gain of function associated with myeloid leukemic transformation (PubMed:23832012). Myeloid malignancies are separated into three main categories: myeloproliferative neoplasms (MPN) characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, myelodysplastic syndromes (MDS) and MDS/MPN. The MDS/MPN category shows overlapping characteristics of both MDS and MPN and includes chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia (ACML) and unclassified MDS/MPN (PubMed:23628959).2 Publications
Myelodysplastic syndrome (MDS)2 Publications
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063807868D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs267607042EnsemblClinVar.1
Natural variantiVAR_069852869S → N in MDS and myeloid malignancies. 2 Publications1
Natural variantiVAR_069857873T → R in MDS and myeloid malignancies. 2 Publications1
Mental retardation, autosomal dominant 29 (MRD29)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.
Related information in OMIM
Leukemia, acute myelogenous (AML)2 Publications
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069848854S → A in AML. 1 Publication1
Natural variantiVAR_069854870G → R in AML. 1 Publication1
Natural variantiVAR_063809870G → S in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other myeloid malignancies; results in higher protein levels; cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. 4 PublicationsCorresponds to variant dbSNP:rs267607040EnsemblClinVar.1
Natural variantiVAR_069856871I → S in AML. 1 Publication1
Leukemia, chronic myeloid, atypical (ACML)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069849858E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 PublicationsCorresponds to variant dbSNP:rs1178702025EnsemblClinVar.1
Natural variantiVAR_063810871I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 PublicationsCorresponds to variant dbSNP:rs267607038EnsemblClinVar.1
Leukemia, juvenile myelomonocytic (JMML)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionAn aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
26040

MalaCards human disease database

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MalaCardsi
SETBP1
MIMi269150 phenotype
601626 phenotype
607785 phenotype
608232 phenotype
614286 phenotype
616078 phenotype

Open Targets

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OpenTargetsi
ENSG00000152217

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

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Orphaneti
436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome
798 Schinzel-Giedion syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37982

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SETBP1

Domain mapping of disease mutations (DMDM)

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DMDMi
294862494

<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 ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000976981 – 1596SET-binding proteinAdd BLAST1596

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 residuei817N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y6X0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y6X0

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

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PaxDbi
Q9Y6X0

PeptideAtlas

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PeptideAtlasi
Q9Y6X0

PRoteomics IDEntifications database

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PRIDEi
Q9Y6X0

ProteomicsDB human proteome resource

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ProteomicsDBi
86807 [Q9Y6X0-1]
86808 [Q9Y6X0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y6X0

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

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PhosphoSitePlusi
Q9Y6X0

<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

Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000152217 Expressed in 227 organ(s), highest expression level in cerebral cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y6X0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y6X0 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA049022
HPA057259

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SET.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117506, 17 interactors

Protein interaction database and analysis system

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IntActi
Q9Y6X0, 15 interactors

Molecular INTeraction database

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MINTi
Q9Y6X0

STRING: functional protein association networks

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STRINGi
9606.ENSP00000282030

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1520 – 152718
Repeati1528 – 153528
Repeati1536 – 154338

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>Regioni1520 – 15433 X 8 AA tandem repeats of P-P-L-P-P-P-P-PAdd BLAST24

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1083 Eukaryota
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158784

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000154293

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y6X0

KEGG Orthology (KO)

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KOi
K23217

Identification of Orthologs from Complete Genome Data

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OMAi
HQHSEAS

Database of Orthologous Groups

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OrthoDBi
208374at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y6X0

TreeFam database of animal gene trees

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TreeFami
TF106416

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017956 AT_hook_DNA-bd_motif

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00384 AT_hook, 3 hits

<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_length">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q9Y6X0-1) [UniParc]FASTAAdd to basket

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
MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV
60 70 80 90 100
GGERMEPEEE DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE
110 120 130 140 150
GSLKLKIQTT KRAKKPPKNL ENYICPPEIK ITIKQSGDQK VSRAGKNSKA
160 170 180 190 200
TKEEERSHSK KKLLTASDLA ASDLKGFQPQ AYERPQKHST LHYDTGLPQD
210 220 230 240 250
FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE SGRETASTSK
260 270 280 290 300
IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA
310 320 330 340 350
PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP
360 370 380 390 400
DLDWVKNAQK AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV
410 420 430 440 450
RITIPIKAPS LDPTNHKRKK RQSIKAVVEK IMPEKALASG ITMSSEVVNR
460 470 480 490 500
ILSNSEGNKK DPRVPKLSKM IENESPSVGL ETGGNAEKVI PGGVSKPRKP
510 520 530 540 550
PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS TMLREAVMAT
560 570 580 590 600
SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET
610 620 630 640 650
IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK
660 670 680 690 700
KVGKLGVLDK KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP
710 720 730 740 750
GAAAIESKLG KQINVSKRGT IYIGKKRGRK PRAELPPPSE EPKTAIKHPR
760 770 780 790 800
PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS TQLGGSNGNL SPASTETNFS
810 820 830 840 850
ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS HLCEIGSLKE
860 870 880 890 900
ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD
910 920 930 940 950
NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD
960 970 980 990 1000
LQFLADLEEL ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ
1010 1020 1030 1040 1050
YDPLLYLRRT SDLKSKKKRG RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP
1060 1070 1080 1090 1100
YGMPYTSMPM MNLGYYGQYP APLYLSHTLG AASPFMRPTV PPPQFHTNSH
1110 1120 1130 1140 1150
VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA SLSSGRLHKR
1160 1170 1180 1190 1200
KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV
1210 1220 1230 1240 1250
SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD
1260 1270 1280 1290 1300
LSSEPVDSCT KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR
1310 1320 1330 1340 1350
RSYEGFGTYR EKDIQAFKMN RKERSSYDSS MSPGMPSPHL KVDQTAVHSK
1360 1370 1380 1390 1400
NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL LAASAATSDA VGSSLKKRFK
1410 1420 1430 1440 1450
RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ RQSKTGNNFV
1460 1470 1480 1490 1500
KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA
1510 1520 1530 1540 1550
SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG
1560 1570 1580 1590
GKRKHKPQAP AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP
Length:1,596
Mass (Da):175,008
Last modified:April 20, 2010 - 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:i466A6E0A1A8EEF41
GO
Isoform 2 (identifier: Q9Y6X0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     181-242: AYERPQKHST...QNCFISPESG → IKDSSKEEVW...SEPAVWAQEV
     243-1596: Missing.

Note: No experimental confirmation available.
Show »
Length:242
Mass (Da):26,397
Checksum:i185162E51CFF9310
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
A0A2R8YH59A0A2R8YH59_HUMAN
SET-binding protein
SETBP1
194Annotation 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>
K7ES17K7ES17_HUMAN
SET-binding protein
SETBP1
137Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI46777 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA24826 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA82444 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024347231V → L. Corresponds to variant dbSNP:rs11082414EnsemblClinVar.1
Natural variantiVAR_069848854S → A in AML. 1 Publication1
Natural variantiVAR_069849858E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 PublicationsCorresponds to variant dbSNP:rs1178702025EnsemblClinVar.1
Natural variantiVAR_063806868D → A in SGMFS. 1 PublicationCorresponds to variant dbSNP:rs267607041EnsemblClinVar.1
Natural variantiVAR_069850868D → G in myeloid malignancies. 1 Publication1
Natural variantiVAR_063807868D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs267607042EnsemblClinVar.1
Natural variantiVAR_069851868D → Y in myeloid malignancies. 2 Publications1
Natural variantiVAR_069852869S → N in MDS and myeloid malignancies. 2 Publications1
Natural variantiVAR_069853869S → R in myeloid malignancies. 1 Publication1
Natural variantiVAR_063808870G → D in SGMFS. 2 PublicationsCorresponds to variant dbSNP:rs267607039EnsemblClinVar.1
Natural variantiVAR_069854870G → R in AML. 1 Publication1
Natural variantiVAR_063809870G → S in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other myeloid malignancies; results in higher protein levels; cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. 4 PublicationsCorresponds to variant dbSNP:rs267607040EnsemblClinVar.1
Natural variantiVAR_069855870G → V in myeloid malignancies. 1 Publication1
Natural variantiVAR_069856871I → S in AML. 1 Publication1
Natural variantiVAR_063810871I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 PublicationsCorresponds to variant dbSNP:rs267607038EnsemblClinVar.1
Natural variantiVAR_069857873T → R in MDS and myeloid malignancies. 2 Publications1
Natural variantiVAR_069858874D → N in myeloid malignancies. 1 Publication1
Natural variantiVAR_069859880D → A in myeloid malignancies. 1 Publication1
Natural variantiVAR_069860880D → E in myeloid malignancies. 1 Publication1
Natural variantiVAR_069861880D → N in myeloid malignancies. 1
Natural variantiVAR_069862908D → N in myeloid malignancies. 1 PublicationCorresponds to variant dbSNP:rs559186877Ensembl.1
Natural variantiVAR_0546461101V → I3 PublicationsCorresponds to variant dbSNP:rs3744825EnsemblClinVar.1
Natural variantiVAR_0203171130P → T. Corresponds to variant dbSNP:rs1064204EnsemblClinVar.1
Natural variantiVAR_0359871162R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs778181199Ensembl.1
Natural variantiVAR_0698631321R → H1 PublicationCorresponds to variant dbSNP:rs149638556Ensembl.1
Natural variantiVAR_0698641377V → L1 PublicationCorresponds to variant dbSNP:rs77518617EnsemblClinVar.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_039060181 – 242AYERP…SPESG → IKDSSKEEVWKRRGGQGIPF KKQFLSQERAMCFSCPRNPF PAKPGSLTLPFHSEPAVWAQ EV in isoform 2. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_039061243 – 1596Missing in isoform 2. 1 PublicationAdd BLAST1354

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB007897 mRNA Translation: BAA24826.2 Different initiation.
AC015954 Genomic DNA No translation available.
AC021766 Genomic DNA No translation available.
AC090376 Genomic DNA No translation available.
AC105074 Genomic DNA No translation available.
AC120049 Genomic DNA No translation available.
BC062338 mRNA Translation: AAH62338.1
BC146776 mRNA Translation: AAI46777.1 Different initiation.
AB022660 mRNA Translation: BAA82444.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11923.2 [Q9Y6X0-1]
CCDS45859.1 [Q9Y6X0-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00063

NCBI Reference Sequences

More...
RefSeqi
NP_001123582.1, NM_001130110.1 [Q9Y6X0-2]
NP_056374.2, NM_015559.2 [Q9Y6X0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000426838; ENSP00000390687; ENSG00000152217 [Q9Y6X0-2]
ENST00000649279; ENSP00000497406; ENSG00000152217 [Q9Y6X0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26040

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26040

UCSC genome browser

More...
UCSCi
uc002lay.3 human [Q9Y6X0-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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_references_section">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
AB007897 mRNA Translation: BAA24826.2 Different initiation.
AC015954 Genomic DNA No translation available.
AC021766 Genomic DNA No translation available.
AC090376 Genomic DNA No translation available.
AC105074 Genomic DNA No translation available.
AC120049 Genomic DNA No translation available.
BC062338 mRNA Translation: AAH62338.1
BC146776 mRNA Translation: AAI46777.1 Different initiation.
AB022660 mRNA Translation: BAA82444.1 Different initiation.
CCDSiCCDS11923.2 [Q9Y6X0-1]
CCDS45859.1 [Q9Y6X0-2]
PIRiT00063
RefSeqiNP_001123582.1, NM_001130110.1 [Q9Y6X0-2]
NP_056374.2, NM_015559.2 [Q9Y6X0-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117506, 17 interactors
IntActiQ9Y6X0, 15 interactors
MINTiQ9Y6X0
STRINGi9606.ENSP00000282030

Protein family/group databases

MoonDBiQ9Y6X0 Predicted

PTM databases

iPTMnetiQ9Y6X0
PhosphoSitePlusiQ9Y6X0

Polymorphism and mutation databases

BioMutaiSETBP1
DMDMi294862494

Proteomic databases

jPOSTiQ9Y6X0
MassIVEiQ9Y6X0
PaxDbiQ9Y6X0
PeptideAtlasiQ9Y6X0
PRIDEiQ9Y6X0
ProteomicsDBi86807 [Q9Y6X0-1]
86808 [Q9Y6X0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000426838; ENSP00000390687; ENSG00000152217 [Q9Y6X0-2]
ENST00000649279; ENSP00000497406; ENSG00000152217 [Q9Y6X0-1]
GeneIDi26040
KEGGihsa:26040
UCSCiuc002lay.3 human [Q9Y6X0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26040
DisGeNETi26040

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SETBP1
HGNCiHGNC:15573 SETBP1
HPAiHPA049022
HPA057259
MalaCardsiSETBP1
MIMi269150 phenotype
601626 phenotype
607785 phenotype
608232 phenotype
611060 gene
614286 phenotype
616078 phenotype
neXtProtiNX_Q9Y6X0
OpenTargetsiENSG00000152217
Orphaneti436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome
798 Schinzel-Giedion syndrome
PharmGKBiPA37982

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1083 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000158784
HOGENOMiHOG000154293
InParanoidiQ9Y6X0
KOiK23217
OMAiHQHSEAS
OrthoDBi208374at2759
PhylomeDBiQ9Y6X0
TreeFamiTF106416

Enzyme and pathway databases

SIGNORiQ9Y6X0

Miscellaneous databases

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

More...
ChiTaRSi
SETBP1 human

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

More...
GenomeRNAii
26040

Pharos

More...
Pharosi
Q9Y6X0

Protein Ontology

More...
PROi
PR:Q9Y6X0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152217 Expressed in 227 organ(s), highest expression level in cerebral cortex
ExpressionAtlasiQ9Y6X0 baseline and differential
GenevisibleiQ9Y6X0 HS

Family and domain databases

InterProiView protein in InterPro
IPR017956 AT_hook_DNA-bd_motif
SMARTiView protein in SMART
SM00384 AT_hook, 3 hits

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 nameiSETBP_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: Q9Y6X0
Secondary accession number(s): A6H8W5, Q6P6C3, Q9UEF3
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 20, 2010
Last modified: September 18, 2019
This is version 154 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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