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   28-JAN-2026, entry version 187.
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   -!- 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="https://atlasgeneticsoncology.org/gene/44031/SETBP1";
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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_001130110.2. [Q9Y6X0-2]
DR   RefSeq; NP_001366070.1; NM_001379141.1. [Q9Y6X0-1]
DR   RefSeq; NP_001366071.1; NM_001379142.1. [Q9Y6X0-1]
DR   RefSeq; NP_056374.2; NM_015559.3. [Q9Y6X0-1]
DR   RefSeq; XP_024306922.1; XM_024451154.2. [Q9Y6X0-1]
DR   RefSeq; XP_047293432.1; XM_047437476.1. [Q9Y6X0-1]
DR   RefSeq; XP_054174488.1; XM_054318513.1. [Q9Y6X0-1]
DR   RefSeq; XP_054174489.1; XM_054318514.1. [Q9Y6X0-1]
DR   AlphaFoldDB; Q9Y6X0; -.
DR   BioGRID; 117506; 30.
DR   FunCoup; Q9Y6X0; 1617.
DR   MINT; Q9Y6X0; -.
DR   STRING; 9606.ENSP00000497406; -.
DR   MoonDB; Q9Y6X0; Predicted.
DR   GlyGen; Q9Y6X0; 5 sites, 1 O-linked glycan (1 site).
DR   iPTMnet; Q9Y6X0; -.
DR   PhosphoSitePlus; Q9Y6X0; -.
DR   BioMuta; SETBP1; -.
DR   DMDM; 294862494; -.
DR   jPOST; Q9Y6X0; -.
DR   MassIVE; Q9Y6X0; -.
DR   PaxDb; 9606-ENSP00000282030; -.
DR   PeptideAtlas; Q9Y6X0; -.
DR   ProteomicsDB; 86807; -. [Q9Y6X0-1]
DR   ProteomicsDB; 86808; -. [Q9Y6X0-2]
DR   Antibodypedia; 22406; 169 antibodies from 25 providers.
DR   DNASU; 26040; -.
DR   Ensembl; ENST00000426838.8; ENSP00000390687.3; ENSG00000152217.21. [Q9Y6X0-2]
DR   Ensembl; ENST00000649279.2; ENSP00000497406.1; ENSG00000152217.21. [Q9Y6X0-1]
DR   Ensembl; ENST00000677068.1; ENSP00000504398.1; ENSG00000152217.21. [Q9Y6X0-1]
DR   Ensembl; ENST00000677077.1; ENSP00000503656.1; ENSG00000152217.21. [Q9Y6X0-1]
DR   Ensembl; ENST00000677130.1; ENSP00000503094.1; ENSG00000152217.21. [Q9Y6X0-1]
DR   Ensembl; ENST00000678152.1; ENSP00000502995.1; ENSG00000152217.21. [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   AGR; HGNC:15573; -.
DR   CIViC; 26040; 3 evidence items across 3 molecular profiles.
DR   ClinPGx; PA37982; -.
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   OpenTargets; ENSG00000152217; -.
DR   Orphanet; 436151; Intellectual disability-expressive aphasia-facial dysmorphism syndrome.
DR   Orphanet; 798; Schinzel-Giedion syndrome.
DR   VEuPathDB; HostDB:ENSG00000152217; -.
DR   eggNOG; KOG1083; Eukaryota.
DR   GeneTree; ENSGT00940000158784; -.
DR   HOGENOM; CLU_005903_0_0_1; -.
DR   InParanoid; Q9Y6X0; -.
DR   OMA; RHSHRPK; -.
DR   OrthoDB; 9937744at2759; -.
DR   PAN-GO; Q9Y6X0; 5 GO annotations based on evolutionary models.
DR   PhylomeDB; Q9Y6X0; -.
DR   PathwayCommons; Q9Y6X0; -.
DR   SignaLink; Q9Y6X0; -.
DR   SIGNOR; Q9Y6X0; -.
DR   Agora; ENSG00000152217; -.
DR   BioGRID-ORCS; 26040; 11 hits in 1154 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 202 other cell types or tissues.
DR   ExpressionAtlas; Q9Y6X0; baseline and differential.
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:0005634; C:nucleus; IDA:MGI.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0042800; F:histone H3K4 methyltransferase activity; IBA:GO_Central.
DR   GO; GO:0006355; P:regulation of DNA-templated transcription; IBA:GO_Central.
DR   InterPro; IPR017956; AT_hook_DNA-bd_motif.
DR   PANTHER; PTHR46147; HISTONE-LYSINE N-METHYLTRANSFERASE ASH1; 1.
DR   PANTHER; PTHR46147:SF2; SET-BINDING PROTEIN; 1.
DR   SMART; SM00384; AT_hook; 3.
PE   1: Evidence at protein level;
KW   Acetylation; Alternative splicing; Disease variant; DNA-binding;
KW   Intellectual disability; Nucleus; Proteomics identification;
KW   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        1..12
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        64..81
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        164..175
FT                   /note="Low complexity"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        213..236
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        270..282
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        290..306
FT                   /note="Low complexity"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        363..372
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        375..395
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        779..796
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        854..880
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1146..1159
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1450..1459
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1520..1546
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1560..1572
FT                   /note="Pro 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
//