SETBP_HUMAN
ID SETBP_HUMAN Reviewed; 1596 AA.
AC Q9Y6X0; A6H8W5; Q6P6C3; Q9UEF3;
DT 13-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 3.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=SET-binding protein;
DE Short=SEB;
GN Name=SETBP1; Synonyms=KIAA0437;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-1101.
RC TISSUE=Brain;
RX PubMed=9455477; DOI=10.1093/dnares/4.5.307;
RA Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VIII. 78
RT new cDNA clones from brain which code for large proteins in vitro.";
RL DNA Res. 4:307-313(1997).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ILE-1101.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 54-1596 (ISOFORM 1), INTERACTION WITH SET,
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND VARIANT ILE-1101.
RC TISSUE=Cervix carcinoma;
RX PubMed=11231286; DOI=10.1046/j.1432-1327.2001.02000.x;
RA Minakuchi M., Kakazu N., Gorrin-Rivas M.J., Abe T., Copeland T.D., Ueda K.,
RA Adachi Y.;
RT "Identification and characterization of SEB, a novel protein that binds to
RT the acute undifferentiated leukemia-associated protein SET.";
RL Eur. J. Biochem. 268:1340-1351(2001).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [7]
RP INVOLVEMENT IN MRD29.
RX PubMed=25217958; DOI=10.1038/ng.3092;
RA Coe B.P., Witherspoon K., Rosenfeld J.A., van Bon B.W.,
RA Vulto-van Silfhout A.T., Bosco P., Friend K.L., Baker C., Buono S.,
RA Vissers L.E., Schuurs-Hoeijmakers J.H., Hoischen A., Pfundt R., Krumm N.,
RA Carvill G.L., Li D., Amaral D., Brown N., Lockhart P.J., Scheffer I.E.,
RA Alberti A., Shaw M., Pettinato R., Tervo R., de Leeuw N., Reijnders M.R.,
RA Torchia B.S., Peeters H., O'Roak B.J., Fichera M., Hehir-Kwa J.Y.,
RA Shendure J., Mefford H.C., Haan E., Gecz J., de Vries B.B., Romano C.,
RA Eichler E.E.;
RT "Refining analyses of copy number variation identifies specific genes
RT associated with developmental delay.";
RL Nat. Genet. 46:1063-1071(2014).
RN [8]
RP VARIANT [LARGE SCALE ANALYSIS] TRP-1162.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [9]
RP VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871.
RX PubMed=20436468; DOI=10.1038/ng.581;
RA Hoischen A., van Bon B.W., Gilissen C., Arts P., van Lier B.,
RA Steehouwer M., de Vries P., de Reuver R., Wieskamp N., Mortier G.,
RA Devriendt K., Amorim M.Z., Revencu N., Kidd A., Barbosa M., Turner A.,
RA Smith J., Oley C., Henderson A., Hayes I.M., Thompson E.M., Brunner H.G.,
RA de Vries B.B., Veltman J.A.;
RT "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.";
RL Nat. Genet. 42:483-485(2010).
RN [10]
RP VARIANT MDS ARG-873, AND VARIANTS AML ARG-870 AND SER-871.
RX PubMed=23889083; DOI=10.1111/bjh.12491;
RA Fernandez-Mercado M., Pellagatti A., Di Genua C., Larrayoz M.J.,
RA Winkelmann N., Aranaz P., Burns A., Schuh A., Calasanz M.J., Cross N.C.,
RA Boultwood J.;
RT "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often
RT coexist with cytogenetic markers associated with disease progression.";
RL Br. J. Haematol. 163:235-239(2013).
RN [11]
RP VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869;
RP SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908.
RX PubMed=23628959; DOI=10.1038/leu.2013.133;
RA Meggendorfer M., Bacher U., Alpermann T., Haferlach C., Kern W.,
RA Gambacorti-Passerini C., Haferlach T., Schnittger S.;
RT "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are
RT strongly associated with atypical CML, monosomy 7, isochromosome
RT i(17)(q10), ASXL1 and CBL mutations.";
RL Leukemia 27:1852-1860(2013).
RN [12]
RP VARIANTS AML ALA-854 AND SER-870, AND VARIANTS MDS ASN-868; ASN-869 AND
RP SER-870.
RX PubMed=23648668; DOI=10.1038/leu.2013.145;
RA Thol F., Suchanek K.J., Koenecke C., Stadler M., Platzbecker U., Thiede C.,
RA Schroeder T., Kobbe G., Kade S., Loffeld P., Banihosseini S., Bug G.,
RA Ottmann O., Hofmann W.K., Krauter J., Kroger N., Ganser A., Heuser M.;
RT "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover,
RT Germany.";
RL Leukemia 27:2072-2075(2013).
RN [13]
RP VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND
RP LEU-1377, AND CHARACTERIZATION OF VARIANT ACML SER-870.
RX PubMed=23222956; DOI=10.1038/ng.2495;
RA Piazza R., Valletta S., Winkelmann N., Redaelli S., Spinelli R., Pirola A.,
RA Antolini L., Mologni L., Donadoni C., Papaemmanuil E., Schnittger S.,
RA Kim D.W., Boultwood J., Rossi F., Gaipa G., De Martini G.P., di Celle P.F.,
RA Jang H.G., Fantin V., Bignell G.R., Magistroni V., Haferlach T.,
RA Pogliani E.M., Campbell P.J., Chase A.J., Tapper W.J., Cross N.C.,
RA Gambacorti-Passerini C.;
RT "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.";
RL Nat. Genet. 45:18-24(2013).
RN [14]
RP VARIANT JMML ASN-868.
RX PubMed=23832011; DOI=10.1038/ng.2698;
RA Sakaguchi H., Okuno Y., Muramatsu H., Yoshida K., Shiraishi Y.,
RA Takahashi M., Kon A., Sanada M., Chiba K., Tanaka H., Makishima H.,
RA Wang X., Xu Y., Doisaki S., Hama A., Nakanishi K., Takahashi Y.,
RA Yoshida N., Maciejewski J.P., Miyano S., Ogawa S., Kojima S.;
RT "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in
RT juvenile myelomonocytic leukemia.";
RL Nat. Genet. 45:937-941(2013).
RN [15]
RP VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND
RP GLU-880, AND TISSUE SPECIFICITY.
RX PubMed=23832012; DOI=10.1038/ng.2696;
RA Makishima H., Yoshida K., Nguyen N., Przychodzen B., Sanada M., Okuno Y.,
RA Ng K.P., Gudmundsson K.O., Vishwakarma B.A., Jerez A., Gomez-Segui I.,
RA Takahashi M., Shiraishi Y., Nagata Y., Guinta K., Mori H., Sekeres M.A.,
RA Chiba K., Tanaka H., Muramatsu H., Sakaguchi H., Paquette R.L.,
RA McDevitt M.A., Kojima S., Saunthararajah Y., Miyano S., Shih L.Y., Du Y.,
RA Ogawa S., Maciejewski J.P.;
RT "Somatic SETBP1 mutations in myeloid malignancies.";
RL Nat. Genet. 45:942-946(2013).
CC -!- SUBUNIT: Interacts with SET. {ECO:0000269|PubMed:11231286}.
CC -!- INTERACTION:
CC Q9Y6X0; Q9P1C9: KIAA1147; NbExp=3; IntAct=EBI-2548259, EBI-10318388;
CC Q9Y6X0; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-2548259, EBI-742388;
CC Q9Y6X0; Q9NS26: SPANXA2; NbExp=3; IntAct=EBI-2548259, EBI-10313181;
CC Q9Y6X0; Q9NY87: SPANXC; NbExp=3; IntAct=EBI-2548259, EBI-10316585;
CC Q9Y6X0; Q9BXN6: SPANXD; NbExp=3; IntAct=EBI-2548259, EBI-10301202;
CC Q9Y6X0; G2XKQ0: SUMO1P1; NbExp=3; IntAct=EBI-2548259, EBI-10175576;
CC Q9Y6X0; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-2548259, EBI-10180829;
CC Q9Y6X0; Q9HD64: XAGE1B; NbExp=3; IntAct=EBI-2548259, EBI-2340004;
CC Q9Y6X0; Q8IY57: YAF2; NbExp=3; IntAct=EBI-2548259, EBI-2842031;
CC Q9Y6X0; Q15326: ZMYND11; NbExp=2; IntAct=EBI-2548259, EBI-2623509;
CC Q9Y6X0-2; Q9H8W4: PLEKHF2; NbExp=6; IntAct=EBI-12235818, EBI-742388;
CC Q9Y6X0-2; Q9NS26: SPANXA2; NbExp=3; IntAct=EBI-12235818, EBI-10313181;
CC Q9Y6X0-2; Q9BXN6: SPANXD; NbExp=3; IntAct=EBI-12235818, EBI-10301202;
CC Q9Y6X0-2; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-12235818, EBI-10180829;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11231286}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y6X0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y6X0-2; Sequence=VSP_039060, VSP_039061;
CC -!- TISSUE SPECIFICITY: Expressed in numerous tissues. Expressed at low
CC levels in myeloid and monocytic cells as well as in CD34+ cells;
CC expression levels are higher in myeloid malignancies.
CC {ECO:0000269|PubMed:11231286, ECO:0000269|PubMed:23832012}.
CC -!- DISEASE: Schinzel-Giedion midface retraction syndrome (SGMFS)
CC [MIM:269150]: A disorder characterized by severe intellectual
CC disability, distinctive facial features, and multiple congenital
CC malformations including skeletal abnormalities, genitourinary and renal
CC malformations, cardiac defects, as well as a higher-than-normal
CC prevalence of tumors, notably neuroepithelial neoplasia.
CC {ECO:0000269|PubMed:20436468}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=SETBP1 somatic mutations are frequently found in myeloid
CC malignancies. They cause gain of function associated with myeloid
CC leukemic transformation (PubMed:23832012). Myeloid malignancies are
CC separated into three main categories: myeloproliferative neoplasms
CC (MPN) characterized by cellular proliferation of one or more
CC hematologic cell lines in the peripheral blood, myelodysplastic
CC syndromes (MDS) and MDS/MPN. The MDS/MPN category shows overlapping
CC characteristics of both MDS and MPN and includes chronic myelomonocytic
CC leukemia (CMML), juvenile myelomonocytic leukemia, atypical chronic
CC myeloid leukemia (ACML) and unclassified MDS/MPN (PubMed:23628959).
CC {ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23832012}.
CC -!- DISEASE: Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous
CC group of closely related clonal hematopoietic disorders. All are
CC characterized by a hypercellular or hypocellular bone marrow with
CC impaired morphology and maturation, dysplasia of the myeloid,
CC megakaryocytic and/or erythroid lineages, and peripheral blood
CC cytopenias resulting from ineffective blood cell production. Included
CC diseases are: refractory anemia (RA), refractory anemia with ringed
CC sideroblasts (RARS), refractory anemia with excess blasts (RAEB),
CC refractory cytopenia with multilineage dysplasia and ringed
CC sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a
CC myelodysplastic/myeloproliferative disease. MDS is considered a
CC premalignant condition in a subgroup of patients that often progresses
CC to acute myeloid leukemia (AML). {ECO:0000269|PubMed:23648668,
CC ECO:0000269|PubMed:23889083}. Note=The gene represented in this entry
CC is involved in disease pathogenesis.
CC -!- DISEASE: Intellectual developmental disorder, autosomal dominant 29
CC (MRD29) [MIM:616078]: A disorder characterized by significantly below
CC average general intellectual functioning associated with impairments in
CC adaptive behavior and manifested during the developmental period. MRD29
CC patients manifest severe intellectual disability, behavioral
CC difficulties, speech and motor delays, and dysmorphic facial features.
CC {ECO:0000269|PubMed:25217958}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of
CC acute leukemia, a cancer of the white blood cells. AML is a malignant
CC disease of bone marrow characterized by maturational arrest of
CC hematopoietic precursors at an early stage of development. Clonal
CC expansion of myeloid blasts occurs in bone marrow, blood, and other
CC tissue. Myelogenous leukemias develop from changes in cells that
CC normally produce neutrophils, basophils, eosinophils and monocytes.
CC {ECO:0000269|PubMed:23648668, ECO:0000269|PubMed:23889083}. Note=The
CC gene represented in this entry is involved in disease pathogenesis.
CC -!- DISEASE: Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]: A
CC myeloproliferative disorder that shares clinical and laboratory
CC features with chronic myeloid leukemia but lacks the pathognomonic
CC Philadelphia chromosome and the corresponding BCR/ABL1 fusion
CC transcript. Features include myeloid predominance in the bone marrow,
CC myeloid proliferation and low leukocyte alkaline phosphatase value,
CC splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged
CC spleen may also be associated with a hypermetabolic state, fever,
CC weight loss, and chronic fatigue. The enlarged liver may contribute to
CC the patient's weight loss. {ECO:0000269|PubMed:23222956}. Note=The gene
CC represented in this entry is involved in disease pathogenesis.
CC -!- DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An
CC aggressive pediatric myelodysplastic syndrome/myeloproliferative
CC disorder characterized by malignant transformation in the hematopoietic
CC stem cell compartment with proliferation of differentiated progeny.
CC Patients have splenomegaly, enlarged lymph nodes, rashes, and
CC hemorrhages. {ECO:0000269|PubMed:23832011}. Note=The gene represented
CC in this entry is involved in disease pathogenesis.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI46777.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA24826.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA82444.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/SETBP1ID44031ch18q12.html";
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DR EMBL; AB007897; BAA24826.2; ALT_INIT; mRNA.
DR EMBL; AC015954; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC021766; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090376; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105074; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC120049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062338; AAH62338.1; -; mRNA.
DR EMBL; BC146776; AAI46777.1; ALT_INIT; mRNA.
DR EMBL; AB022660; BAA82444.1; ALT_INIT; mRNA.
DR CCDS; CCDS11923.2; -. [Q9Y6X0-1]
DR CCDS; CCDS45859.1; -. [Q9Y6X0-2]
DR PIR; T00063; T00063.
DR RefSeq; NP_001123582.1; NM_001130110.1. [Q9Y6X0-2]
DR RefSeq; NP_056374.2; NM_015559.2. [Q9Y6X0-1]
DR AlphaFoldDB; Q9Y6X0; -.
DR BioGRID; 117506; 20.
DR IntAct; Q9Y6X0; 15.
DR MINT; Q9Y6X0; -.
DR STRING; 9606.ENSP00000282030; -.
DR MoonDB; Q9Y6X0; Predicted.
DR iPTMnet; Q9Y6X0; -.
DR PhosphoSitePlus; Q9Y6X0; -.
DR BioMuta; SETBP1; -.
DR DMDM; 294862494; -.
DR jPOST; Q9Y6X0; -.
DR MassIVE; Q9Y6X0; -.
DR PaxDb; Q9Y6X0; -.
DR PeptideAtlas; Q9Y6X0; -.
DR PRIDE; Q9Y6X0; -.
DR ProteomicsDB; 86807; -. [Q9Y6X0-1]
DR ProteomicsDB; 86808; -. [Q9Y6X0-2]
DR Antibodypedia; 22406; 176 antibodies from 25 providers.
DR DNASU; 26040; -.
DR Ensembl; ENST00000426838.8; ENSP00000390687.3; ENSG00000152217.20. [Q9Y6X0-2]
DR Ensembl; ENST00000649279.2; ENSP00000497406.1; ENSG00000152217.20. [Q9Y6X0-1]
DR Ensembl; ENST00000677068.1; ENSP00000504398.1; ENSG00000152217.20. [Q9Y6X0-1]
DR Ensembl; ENST00000677077.1; ENSP00000503656.1; ENSG00000152217.20. [Q9Y6X0-1]
DR Ensembl; ENST00000677130.1; ENSP00000503094.1; ENSG00000152217.20. [Q9Y6X0-1]
DR Ensembl; ENST00000678152.1; ENSP00000502995.1; ENSG00000152217.20. [Q9Y6X0-1]
DR GeneID; 26040; -.
DR KEGG; hsa:26040; -.
DR MANE-Select; ENST00000649279.2; ENSP00000497406.1; NM_015559.3; NP_056374.2.
DR UCSC; uc002lay.3; human. [Q9Y6X0-1]
DR CTD; 26040; -.
DR DisGeNET; 26040; -.
DR GeneCards; SETBP1; -.
DR GeneReviews; SETBP1; -.
DR HGNC; HGNC:15573; SETBP1.
DR HPA; ENSG00000152217; Low tissue specificity.
DR MalaCards; SETBP1; -.
DR MIM; 269150; phenotype.
DR MIM; 601626; phenotype.
DR MIM; 607785; phenotype.
DR MIM; 608232; phenotype.
DR MIM; 611060; gene.
DR MIM; 614286; phenotype.
DR MIM; 616078; phenotype.
DR neXtProt; NX_Q9Y6X0; -.
DR OpenTargets; ENSG00000152217; -.
DR Orphanet; 436151; Intellectual disability-expressive aphasia-facial dysmorphism syndrome.
DR Orphanet; 798; Schinzel-Giedion syndrome.
DR PharmGKB; PA37982; -.
DR VEuPathDB; HostDB:ENSG00000152217; -.
DR eggNOG; KOG1083; Eukaryota.
DR GeneTree; ENSGT00940000158784; -.
DR HOGENOM; CLU_005903_0_0_1; -.
DR InParanoid; Q9Y6X0; -.
DR OMA; CDNLPGR; -.
DR OrthoDB; 208374at2759; -.
DR PhylomeDB; Q9Y6X0; -.
DR TreeFam; TF106416; -.
DR PathwayCommons; Q9Y6X0; -.
DR SignaLink; Q9Y6X0; -.
DR SIGNOR; Q9Y6X0; -.
DR BioGRID-ORCS; 26040; 9 hits in 1076 CRISPR screens.
DR ChiTaRS; SETBP1; human.
DR GenomeRNAi; 26040; -.
DR Pharos; Q9Y6X0; Tbio.
DR PRO; PR:Q9Y6X0; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9Y6X0; protein.
DR Bgee; ENSG00000152217; Expressed in ventricular zone and 200 other tissues.
DR ExpressionAtlas; Q9Y6X0; baseline and differential.
DR Genevisible; Q9Y6X0; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0042800; F:histone methyltransferase activity (H3-K4 specific); IBA:GO_Central.
DR GO; GO:0097676; P:histone H3-K36 dimethylation; IBA:GO_Central.
DR GO; GO:0051568; P:histone H3-K4 methylation; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR InterPro; IPR017956; AT_hook_DNA-bd_motif.
DR SMART; SM00384; AT_hook; 3.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Disease variant; DNA-binding;
KW Intellectual disability; Nucleus; Reference proteome; Repeat.
FT CHAIN 1..1596
FT /note="SET-binding protein"
FT /id="PRO_0000097698"
FT REPEAT 1520..1527
FT /note="1"
FT REPEAT 1528..1535
FT /note="2"
FT REPEAT 1536..1543
FT /note="3"
FT DNA_BIND 584..596
FT /note="A.T hook 1"
FT DNA_BIND 1016..1028
FT /note="A.T hook 2"
FT DNA_BIND 1451..1463
FT /note="A.T hook 3"
FT REGION 1..83
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 134..426
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 475..518
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 604..624
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 722..763
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 777..796
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 854..889
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1134..1164
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1202..1225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1245..1300
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1325..1344
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1440..1473
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1518..1596
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1520..1543
FT /note="3 X 8 AA tandem repeats of P-P-L-P-P-P-P-P"
FT COMPBIAS 145..163
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 208..248
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 266..311
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 378..399
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 727..747
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 854..882
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1145..1160
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1202..1223
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1257..1292
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1459..1473
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1518..1547
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1576..1596
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 817
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9Z180"
FT VAR_SEQ 181..242
FT /note="AYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVT
FT QNCFISPESG -> IKDSSKEEVWKRRGGQGIPFKKQFLSQERAMCFSCPRNPFPAKPG
FT SLTLPFHSEPAVWAQEV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039060"
FT VAR_SEQ 243..1596
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039061"
FT VARIANT 231
FT /note="V -> L (in dbSNP:rs11082414)"
FT /id="VAR_024347"
FT VARIANT 854
FT /note="S -> A (in AML)"
FT /evidence="ECO:0000269|PubMed:23648668"
FT /id="VAR_069848"
FT VARIANT 858
FT /note="E -> K (in ACML; somatic mutation in ACML and other
FT myeloid malignancies; dbSNP:rs1178702025)"
FT /evidence="ECO:0000269|PubMed:23222956,
FT ECO:0000269|PubMed:23628959"
FT /id="VAR_069849"
FT VARIANT 868
FT /note="D -> A (in SGMFS; dbSNP:rs267607041)"
FT /evidence="ECO:0000269|PubMed:20436468"
FT /id="VAR_063806"
FT VARIANT 868
FT /note="D -> G (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23628959"
FT /id="VAR_069850"
FT VARIANT 868
FT /note="D -> N (in SGMFS, ACML, JMML and MDS; also found in
FT other myeloid malignancies; somatic mutation;
FT dbSNP:rs267607042)"
FT /evidence="ECO:0000269|PubMed:20436468,
FT ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959,
FT ECO:0000269|PubMed:23648668, ECO:0000269|PubMed:23832011,
FT ECO:0000269|PubMed:23832012"
FT /id="VAR_063807"
FT VARIANT 868
FT /note="D -> Y (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23628959,
FT ECO:0000269|PubMed:23832012"
FT /id="VAR_069851"
FT VARIANT 869
FT /note="S -> N (in MDS and myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23648668,
FT ECO:0000269|PubMed:23832012"
FT /id="VAR_069852"
FT VARIANT 869
FT /note="S -> R (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23628959"
FT /id="VAR_069853"
FT VARIANT 870
FT /note="G -> D (in SGMFS; dbSNP:rs267607039)"
FT /evidence="ECO:0000269|PubMed:20436468,
FT ECO:0000269|PubMed:23628959"
FT /id="VAR_063808"
FT VARIANT 870
FT /note="G -> R (in AML)"
FT /evidence="ECO:0000269|PubMed:23889083"
FT /id="VAR_069854"
FT VARIANT 870
FT /note="G -> S (in SGMFS, ACML, MDS and AML; somatic
FT mutation in ACML and other myeloid malignancies; results in
FT higher protein levels; cells expressing this mutant exhibit
FT higher proliferation rates than those expressing the wild-
FT type protein; dbSNP:rs267607040)"
FT /evidence="ECO:0000269|PubMed:20436468,
FT ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959,
FT ECO:0000269|PubMed:23648668"
FT /id="VAR_063809"
FT VARIANT 870
FT /note="G -> V (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23628959"
FT /id="VAR_069855"
FT VARIANT 871
FT /note="I -> S (in AML; dbSNP:rs267607038)"
FT /evidence="ECO:0000269|PubMed:23889083"
FT /id="VAR_069856"
FT VARIANT 871
FT /note="I -> T (in SGMFS and ACML; somatic mutation in ACML
FT and other myeloid malignancies; dbSNP:rs267607038)"
FT /evidence="ECO:0000269|PubMed:20436468,
FT ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959"
FT /id="VAR_063810"
FT VARIANT 873
FT /note="T -> R (in MDS and myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23628959,
FT ECO:0000269|PubMed:23889083"
FT /id="VAR_069857"
FT VARIANT 874
FT /note="D -> N (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23628959"
FT /id="VAR_069858"
FT VARIANT 880
FT /note="D -> A (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23832012"
FT /id="VAR_069859"
FT VARIANT 880
FT /note="D -> E (in myeloid malignancies)"
FT /evidence="ECO:0000269|PubMed:23832012"
FT /id="VAR_069860"
FT VARIANT 880
FT /note="D -> N (in myeloid malignancies)"
FT /id="VAR_069861"
FT VARIANT 908
FT /note="D -> N (in myeloid malignancies; dbSNP:rs559186877)"
FT /evidence="ECO:0000269|PubMed:23628959"
FT /id="VAR_069862"
FT VARIANT 1101
FT /note="V -> I (in dbSNP:rs3744825)"
FT /evidence="ECO:0000269|PubMed:11231286,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9455477"
FT /id="VAR_054646"
FT VARIANT 1130
FT /note="P -> T (in dbSNP:rs1064204)"
FT /id="VAR_020317"
FT VARIANT 1162
FT /note="R -> W (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs778181199)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035987"
FT VARIANT 1321
FT /note="R -> H (in dbSNP:rs149638556)"
FT /evidence="ECO:0000269|PubMed:23222956"
FT /id="VAR_069863"
FT VARIANT 1377
FT /note="V -> L (in dbSNP:rs77518617)"
FT /evidence="ECO:0000269|PubMed:23222956"
FT /id="VAR_069864"
SQ SEQUENCE 1596 AA; 175008 MW; 466A6E0A1A8EEF41 CRC64;
MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV GGERMEPEEE
DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE GSLKLKIQTT KRAKKPPKNL
ENYICPPEIK ITIKQSGDQK VSRAGKNSKA TKEEERSHSK KKLLTASDLA ASDLKGFQPQ
AYERPQKHST LHYDTGLPQD FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE
SGRETASTSK IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA
PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP DLDWVKNAQK
AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV RITIPIKAPS LDPTNHKRKK
RQSIKAVVEK IMPEKALASG ITMSSEVVNR ILSNSEGNKK DPRVPKLSKM IENESPSVGL
ETGGNAEKVI PGGVSKPRKP PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS
TMLREAVMAT SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET
IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK KVGKLGVLDK
KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP GAAAIESKLG KQINVSKRGT
IYIGKKRGRK PRAELPPPSE EPKTAIKHPR PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS
TQLGGSNGNL SPASTETNFS ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS
HLCEIGSLKE ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD
NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD LQFLADLEEL
ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ YDPLLYLRRT SDLKSKKKRG
RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP YGMPYTSMPM MNLGYYGQYP APLYLSHTLG
AASPFMRPTV PPPQFHTNSH VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA
SLSSGRLHKR KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV
SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD LSSEPVDSCT
KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR RSYEGFGTYR EKDIQAFKMN
RKERSSYDSS MSPGMPSPHL KVDQTAVHSK NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL
LAASAATSDA VGSSLKKRFK RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ
RQSKTGNNFV KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA
SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG GKRKHKPQAP
AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP
