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Q9Y6X0

- SETBP_HUMAN

UniProt

Q9Y6X0 - SETBP_HUMAN

Protein

SET-binding protein

Gene

SETBP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 3 (20 Apr 2010)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi584 – 59613A.T hook 1Add
    BLAST
    DNA bindingi1016 – 102813A.T hook 2Add
    BLAST
    DNA bindingi1451 – 146313A.T hook 3Add
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SET-binding protein
    Short name:
    SEB
    Gene namesi
    Name:SETBP1
    Synonyms:KIAA0437
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:15573. SETBP1.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti868 – 8681D → A in SGMFS. 1 Publication
    VAR_063806
    Natural varianti868 – 8681D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 Publications
    VAR_063807
    Natural varianti870 – 8701G → D in SGMFS. 2 Publications
    VAR_063808
    Natural varianti870 – 8701G → 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 Publications
    VAR_063809
    Natural varianti871 – 8711I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 Publications
    VAR_063810
    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) [MIM:614286]: A 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).2 Publications
    Note: The gene represented in this entry is involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti868 – 8681D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 Publications
    VAR_063807
    Natural varianti869 – 8691S → N in MDS and myeloid malignancies. 2 Publications
    VAR_069852
    Natural varianti870 – 8701G → 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 Publications
    VAR_063809
    Natural varianti873 – 8731T → R in MDS and myeloid malignancies. 2 Publications
    VAR_069857
    Leukemia, acute myelogenous (AML) [MIM:601626]: A 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.2 Publications
    Note: The gene represented in this entry is involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti854 – 8541S → A in AML. 1 Publication
    VAR_069848
    Natural varianti870 – 8701G → R in AML. 1 Publication
    VAR_069854
    Natural varianti870 – 8701G → 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 Publications
    VAR_063809
    Natural varianti871 – 8711I → S in AML. 1 Publication
    VAR_069856
    Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]: A 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.1 Publication
    Note: The gene represented in this entry is involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti858 – 8581E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 Publications
    VAR_069849
    Natural varianti868 – 8681D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 Publications
    VAR_063807
    Natural varianti870 – 8701G → 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 Publications
    VAR_063809
    Natural varianti871 – 8711I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 Publications
    VAR_063810
    Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An 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.1 Publication
    Note: The gene represented in this entry is involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti868 – 8681D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 Publications
    VAR_063807

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi269150. phenotype.
    601626. phenotype.
    607785. phenotype.
    608232. phenotype.
    614286. phenotype.
    Orphaneti798. Schinzel-Giedion syndrome.
    PharmGKBiPA37982.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15961596SET-binding proteinPRO_0000097698Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei817 – 8171N6-acetyllysineBy similarity
    Modified residuei1266 – 12661Phosphoserine1 Publication
    Modified residuei1272 – 12721Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiQ9Y6X0.
    PRIDEiQ9Y6X0.

    PTM databases

    PhosphoSiteiQ9Y6X0.

    Expressioni

    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

    ArrayExpressiQ9Y6X0.
    BgeeiQ9Y6X0.
    CleanExiHS_SETBP1.
    GenevestigatoriQ9Y6X0.

    Organism-specific databases

    HPAiHPA049022.
    HPA057259.

    Interactioni

    Subunit structurei

    Interacts with SET.1 Publication

    Protein-protein interaction databases

    BioGridi117506. 3 interactions.
    IntActiQ9Y6X0. 2 interactions.
    STRINGi9606.ENSP00000282030.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y6X0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati1520 – 152781
    Repeati1528 – 153582
    Repeati1536 – 154383

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1520 – 1543243 X 8 AA tandem repeats of P-P-L-P-P-P-P-PAdd
    BLAST

    Sequence similaritiesi

    Contains 3 A.T hook DNA-binding domains.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG317891.
    HOGENOMiHOG000154293.
    HOVERGENiHBG060433.
    InParanoidiQ9Y6X0.
    OMAiAVIHMAR.
    OrthoDBiEOG7ZPNJ4.
    PhylomeDBiQ9Y6X0.
    TreeFamiTF106416.

    Family and domain databases

    InterProiIPR017956. AT_hook_DNA-bd_motif.
    [Graphical view]
    SMARTiSM00384. AT_hook. 3 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV     50
    GGERMEPEEE DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE 100
    GSLKLKIQTT KRAKKPPKNL ENYICPPEIK ITIKQSGDQK VSRAGKNSKA 150
    TKEEERSHSK KKLLTASDLA ASDLKGFQPQ AYERPQKHST LHYDTGLPQD 200
    FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE SGRETASTSK 250
    IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA 300
    PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP 350
    DLDWVKNAQK AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV 400
    RITIPIKAPS LDPTNHKRKK RQSIKAVVEK IMPEKALASG ITMSSEVVNR 450
    ILSNSEGNKK DPRVPKLSKM IENESPSVGL ETGGNAEKVI PGGVSKPRKP 500
    PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS TMLREAVMAT 550
    SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET 600
    IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK 650
    KVGKLGVLDK KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP 700
    GAAAIESKLG KQINVSKRGT IYIGKKRGRK PRAELPPPSE EPKTAIKHPR 750
    PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS TQLGGSNGNL SPASTETNFS 800
    ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS HLCEIGSLKE 850
    ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD 900
    NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD 950
    LQFLADLEEL ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ 1000
    YDPLLYLRRT SDLKSKKKRG RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP 1050
    YGMPYTSMPM MNLGYYGQYP APLYLSHTLG AASPFMRPTV PPPQFHTNSH 1100
    VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA SLSSGRLHKR 1150
    KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV 1200
    SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD 1250
    LSSEPVDSCT KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR 1300
    RSYEGFGTYR EKDIQAFKMN RKERSSYDSS MSPGMPSPHL KVDQTAVHSK 1350
    NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL LAASAATSDA VGSSLKKRFK 1400
    RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ RQSKTGNNFV 1450
    KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA 1500
    SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG 1550
    GKRKHKPQAP AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP 1596
    Length:1,596
    Mass (Da):175,008
    Last modified:April 20, 2010 - v3
    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

    Sequence cautioni

    The sequence AAI46777.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA24826.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAA82444.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti231 – 2311V → L.
    Corresponds to variant rs11082414 [ dbSNP | Ensembl ].
    VAR_024347
    Natural varianti854 – 8541S → A in AML. 1 Publication
    VAR_069848
    Natural varianti858 – 8581E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 Publications
    VAR_069849
    Natural varianti868 – 8681D → A in SGMFS. 1 Publication
    VAR_063806
    Natural varianti868 – 8681D → G in myeloid malignancies. 1 Publication
    VAR_069850
    Natural varianti868 – 8681D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 Publications
    VAR_063807
    Natural varianti868 – 8681D → Y in myeloid malignancies. 2 Publications
    VAR_069851
    Natural varianti869 – 8691S → N in MDS and myeloid malignancies. 2 Publications
    VAR_069852
    Natural varianti869 – 8691S → R in myeloid malignancies. 1 Publication
    VAR_069853
    Natural varianti870 – 8701G → D in SGMFS. 2 Publications
    VAR_063808
    Natural varianti870 – 8701G → R in AML. 1 Publication
    VAR_069854
    Natural varianti870 – 8701G → 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 Publications
    VAR_063809
    Natural varianti870 – 8701G → V in myeloid malignancies. 1 Publication
    VAR_069855
    Natural varianti871 – 8711I → S in AML. 1 Publication
    VAR_069856
    Natural varianti871 – 8711I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 Publications
    VAR_063810
    Natural varianti873 – 8731T → R in MDS and myeloid malignancies. 2 Publications
    VAR_069857
    Natural varianti874 – 8741D → N in myeloid malignancies. 1 Publication
    VAR_069858
    Natural varianti880 – 8801D → A in myeloid malignancies. 1 Publication
    VAR_069859
    Natural varianti880 – 8801D → E in myeloid malignancies. 1 Publication
    VAR_069860
    Natural varianti880 – 8801D → N in myeloid malignancies.
    VAR_069861
    Natural varianti908 – 9081D → N in myeloid malignancies. 1 Publication
    VAR_069862
    Natural varianti1101 – 11011V → I.3 Publications
    Corresponds to variant rs3744825 [ dbSNP | Ensembl ].
    VAR_054646
    Natural varianti1130 – 11301P → T.
    Corresponds to variant rs1064204 [ dbSNP | Ensembl ].
    VAR_020317
    Natural varianti1162 – 11621R → W in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035987
    Natural varianti1321 – 13211R → H.1 Publication
    Corresponds to variant rs149638556 [ dbSNP | Ensembl ].
    VAR_069863
    Natural varianti1377 – 13771V → L.1 Publication
    Corresponds to variant rs77518617 [ dbSNP | Ensembl ].
    VAR_069864

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei181 – 24262AYERP…SPESG → IKDSSKEEVWKRRGGQGIPF KKQFLSQERAMCFSCPRNPF PAKPGSLTLPFHSEPAVWAQ EV in isoform 2. 1 PublicationVSP_039060Add
    BLAST
    Alternative sequencei243 – 15961354Missing in isoform 2. 1 PublicationVSP_039061Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    XP_005258300.1. XM_005258243.2. [Q9Y6X0-1]
    UniGeneiHs.435458.

    Genome annotation databases

    EnsembliENST00000282030; ENSP00000282030; ENSG00000152217. [Q9Y6X0-1]
    ENST00000426838; ENSP00000390687; ENSG00000152217. [Q9Y6X0-2]
    GeneIDi26040.
    KEGGihsa:26040.
    UCSCiuc002lay.3. human. [Q9Y6X0-2]
    uc010dni.3. human. [Q9Y6X0-1]

    Polymorphism databases

    DMDMi294862494.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS11923.2. [Q9Y6X0-1 ]
    CCDS45859.1. [Q9Y6X0-2 ]
    PIRi T00063.
    RefSeqi NP_001123582.1. NM_001130110.1. [Q9Y6X0-2 ]
    NP_056374.2. NM_015559.2. [Q9Y6X0-1 ]
    XP_005258300.1. XM_005258243.2. [Q9Y6X0-1 ]
    UniGenei Hs.435458.

    3D structure databases

    ProteinModelPortali Q9Y6X0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117506. 3 interactions.
    IntActi Q9Y6X0. 2 interactions.
    STRINGi 9606.ENSP00000282030.

    PTM databases

    PhosphoSitei Q9Y6X0.

    Polymorphism databases

    DMDMi 294862494.

    Proteomic databases

    PaxDbi Q9Y6X0.
    PRIDEi Q9Y6X0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282030 ; ENSP00000282030 ; ENSG00000152217 . [Q9Y6X0-1 ]
    ENST00000426838 ; ENSP00000390687 ; ENSG00000152217 . [Q9Y6X0-2 ]
    GeneIDi 26040.
    KEGGi hsa:26040.
    UCSCi uc002lay.3. human. [Q9Y6X0-2 ]
    uc010dni.3. human. [Q9Y6X0-1 ]

    Organism-specific databases

    CTDi 26040.
    GeneCardsi GC18P042260.
    HGNCi HGNC:15573. SETBP1.
    HPAi HPA049022.
    HPA057259.
    MIMi 269150. phenotype.
    601626. phenotype.
    607785. phenotype.
    608232. phenotype.
    611060. gene.
    614286. phenotype.
    neXtProti NX_Q9Y6X0.
    Orphaneti 798. Schinzel-Giedion syndrome.
    PharmGKBi PA37982.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG317891.
    HOGENOMi HOG000154293.
    HOVERGENi HBG060433.
    InParanoidi Q9Y6X0.
    OMAi AVIHMAR.
    OrthoDBi EOG7ZPNJ4.
    PhylomeDBi Q9Y6X0.
    TreeFami TF106416.

    Miscellaneous databases

    ChiTaRSi SETBP1. human.
    GenomeRNAii 26040.
    NextBioi 47871.
    PROi Q9Y6X0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y6X0.
    Bgeei Q9Y6X0.
    CleanExi HS_SETBP1.
    Genevestigatori Q9Y6X0.

    Family and domain databases

    InterProi IPR017956. AT_hook_DNA-bd_motif.
    [Graphical view ]
    SMARTi SM00384. AT_hook. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
      Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-1101.
      Tissue: Brain.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-1101.
      Tissue: Brain.
    5. "Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET."
      Minakuchi M., Kakazu N., Gorrin-Rivas M.J., Abe T., Copeland T.D., Ueda K., Adachi Y.
      Eur. J. Biochem. 268:1340-1351(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 54-1596 (ISOFORM 1), INTERACTION WITH SET, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ILE-1101.
      Tissue: Cervix carcinoma.
    6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1266 AND SER-1272, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-1162.
    8. Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871.
    9. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression."
      Fernandez-Mercado M., Pellagatti A., Di Genua C., Larrayoz M.J., Winkelmann N., Aranaz P., Burns A., Schuh A., Calasanz M.J., Cross N.C., Boultwood J.
      Br. J. Haematol. 163:235-239(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871.
    10. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations."
      Meggendorfer M., Bacher U., Alpermann T., Haferlach C., Kern W., Gambacorti-Passerini C., Haferlach T., Schnittger S.
      Leukemia 27:1852-1860(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908.
    11. Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870.
    12. Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870.
    13. Cited for: VARIANT JMML ASN-868.
    14. Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiSETBP_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y6X0
    Secondary accession number(s): A6H8W5, Q6P6C3, Q9UEF3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: April 20, 2010
    Last modified: October 1, 2014
    This is version 113 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3