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UniProtKB - Q9Y6X0 (SETBP_HUMAN)

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 ‘Function’ 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

View the 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 functionDNA-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9Y6X0

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...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 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_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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000152217.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:15573 SETBP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611060 gene

neXtProt; the human protein knowledge platform

More...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; 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.
See also OMIM:269150
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).
See also OMIM:614286
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.
See also OMIM:616078
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.
See also OMIM:601626
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.
See also OMIM:608232
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069849858E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 PublicationsCorresponds to variant dbSNP:rs1178702025Ensembl.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.
See also OMIM:607785

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		26040

MalaCards human disease database

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

Open Targets

More...OpenTargetsi		ENSG00000152217

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

More...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

More...BioMutai		SETBP1

Domain mapping of disease mutations (DMDM)

More...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

More...jPOSTi		Q9Y6X0

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

More...PaxDbi		Q9Y6X0

PeptideAtlas

More...PeptideAtlasi		Q9Y6X0

PRoteomics IDEntifications database

More...PRIDEi		Q9Y6X0

ProteomicsDB human proteome resource

More...ProteomicsDBi		86807
86808 [Q9Y6X0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y6X0

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

More...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

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

CleanEx database of gene expression profiles

More...CleanExi		HS_SETBP1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y6X0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y6X0 HS

Organism-specific databases

Human Protein Atlas

More...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)

More...BioGridi		117506, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y6X0, 13 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000282030

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9Y6X0

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

More...eggNOGi		KOG1083 Eukaryota
COG2940 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158784

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000154293

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG060433

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y6X0

Identification of Orthologs from Complete Genome Data

More...OMAi		HQHSEAS

Database of Orthologous Groups

More...OrthoDBi		208374at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y6X0

TreeFam database of animal gene trees

More...TreeFami		TF106416

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017956 AT_hook_DNA-bd_motif

Simple Modular Architecture Research Tool; a protein domain database

More...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>.<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 'canonical' 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
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>
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>

<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:rs1178702025Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

More...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]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.435458

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000282030; ENSP00000282030; ENSG00000152217 [Q9Y6X0-1]
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]
UniGeneiHs.435458

3D structure databases

ProteinModelPortaliQ9Y6X0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117506, 15 interactors
IntActiQ9Y6X0, 13 interactors
STRINGi9606.ENSP00000282030

Protein family/group databases

MoonDBiQ9Y6X0 Predicted

PTM databases

iPTMnetiQ9Y6X0
PhosphoSitePlusiQ9Y6X0

Polymorphism and mutation databases

BioMutaiSETBP1
DMDMi294862494

Proteomic databases

jPOSTiQ9Y6X0
PaxDbiQ9Y6X0
PeptideAtlasiQ9Y6X0
PRIDEiQ9Y6X0
ProteomicsDBi86807
86808 [Q9Y6X0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282030; ENSP00000282030; ENSG00000152217 [Q9Y6X0-1]
ENST00000426838; 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
EuPathDBiHostDB:ENSG00000152217.16

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
HOVERGENiHBG060433
InParanoidiQ9Y6X0
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

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
CleanExiHS_SETBP1
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...

<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: January 16, 2019
This is version 149 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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