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Q9Y6X0

- SETBP_HUMAN

UniProt

Q9Y6X0 - SETBP_HUMAN

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Protein
SET-binding protein
Gene
SETBP1, KIAA0437
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Regions

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

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 (1 Publication). 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 (1 Publication).
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).
Note: The gene represented in this entry is involved in disease pathogenesis.2 Publications
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.
Note: The gene represented in this entry is involved in disease pathogenesis.2 Publications
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.
Note: The gene represented in this entry is involved in disease pathogenesis.1 Publication
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.
Note: The gene represented in this entry is involved in disease pathogenesis.1 Publication
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 protein
PRO_0000097698Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei817 – 8171N6-acetyllysine By 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.

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-P
Add
BLAST

Sequence similaritiesi

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.
VSP_039060Add
BLAST
Alternative sequencei243 – 15961354Missing in isoform 2.
VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 112 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

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