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Protein

SET-binding protein

Gene

SETBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
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 syndrome1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.

See also OMIM:269150
Feature keyPosition(s)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).

Myelodysplastic syndrome2 Publications

The gene represented in this entry is involved in disease pathogenesis.

Disease descriptionA heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).

See also OMIM:614286
Feature keyPosition(s)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
Mental retardation, autosomal dominant 291 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.

See also OMIM:616078
Leukemia, acute myelogenous2 Publications

The gene represented in this entry is involved in disease pathogenesis.

Disease descriptionA subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.

See also OMIM:601626
Feature keyPosition(s)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, atypical1 Publication

The gene represented in this entry is involved in disease pathogenesis.

Disease descriptionA myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss.

See also OMIM:608232
Feature keyPosition(s)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 myelomonocytic1 Publication

The gene represented in this entry is involved in disease pathogenesis.

Disease descriptionAn aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.

See also OMIM:607785
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, Mental retardation

Organism-specific databases

MIMi269150. phenotype.
601626. phenotype.
607785. phenotype.
608232. phenotype.
614286. phenotype.
616078. 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

BgeeiQ9Y6X0.
CleanExiHS_SETBP1.
ExpressionAtlasiQ9Y6X0. baseline and differential.
GenevestigatoriQ9Y6X0.

Organism-specific databases

HPAiHPA049022.
HPA057259.

Interactioni

Subunit structurei

Interacts with SET.1 Publication

Protein-protein interaction databases

BioGridi117506. 15 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.
GeneTreeiENSGT00780000121845.
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

        10         20         30         40         50
MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV
60 70 80 90 100
GGERMEPEEE DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE
110 120 130 140 150
GSLKLKIQTT KRAKKPPKNL ENYICPPEIK ITIKQSGDQK VSRAGKNSKA
160 170 180 190 200
TKEEERSHSK KKLLTASDLA ASDLKGFQPQ AYERPQKHST LHYDTGLPQD
210 220 230 240 250
FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE SGRETASTSK
260 270 280 290 300
IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA
310 320 330 340 350
PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP
360 370 380 390 400
DLDWVKNAQK AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV
410 420 430 440 450
RITIPIKAPS LDPTNHKRKK RQSIKAVVEK IMPEKALASG ITMSSEVVNR
460 470 480 490 500
ILSNSEGNKK DPRVPKLSKM IENESPSVGL ETGGNAEKVI PGGVSKPRKP
510 520 530 540 550
PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS TMLREAVMAT
560 570 580 590 600
SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET
610 620 630 640 650
IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK
660 670 680 690 700
KVGKLGVLDK KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP
710 720 730 740 750
GAAAIESKLG KQINVSKRGT IYIGKKRGRK PRAELPPPSE EPKTAIKHPR
760 770 780 790 800
PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS TQLGGSNGNL SPASTETNFS
810 820 830 840 850
ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS HLCEIGSLKE
860 870 880 890 900
ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD
910 920 930 940 950
NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD
960 970 980 990 1000
LQFLADLEEL ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ
1010 1020 1030 1040 1050
YDPLLYLRRT SDLKSKKKRG RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP
1060 1070 1080 1090 1100
YGMPYTSMPM MNLGYYGQYP APLYLSHTLG AASPFMRPTV PPPQFHTNSH
1110 1120 1130 1140 1150
VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA SLSSGRLHKR
1160 1170 1180 1190 1200
KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV
1210 1220 1230 1240 1250
SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD
1260 1270 1280 1290 1300
LSSEPVDSCT KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR
1310 1320 1330 1340 1350
RSYEGFGTYR EKDIQAFKMN RKERSSYDSS MSPGMPSPHL KVDQTAVHSK
1360 1370 1380 1390 1400
NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL LAASAATSDA VGSSLKKRFK
1410 1420 1430 1440 1450
RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ RQSKTGNNFV
1460 1470 1480 1490 1500
KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA
1510 1520 1530 1540 1550
SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG
1560 1570 1580 1590
GKRKHKPQAP AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP
Length:1,596
Mass (Da):175,008
Last modified:April 20, 2010 - v3
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.Curated
The sequence BAA24826.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA82444.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
Links Updated
AB007897 mRNA. Translation: BAA24826.2. Different initiation.
AC015954 Genomic DNA. No translation available.
AC021766 Genomic DNA. No translation available.
AC090376 Genomic DNA. No translation available.
AC105074 Genomic DNA. No translation available.
AC120049 Genomic DNA. No translation available.
BC062338 mRNA. Translation: AAH62338.1.
BC146776 mRNA. Translation: AAI46777.1. Different initiation.
AB022660 mRNA. Translation: BAA82444.1. Different initiation.
CCDSiCCDS11923.2. [Q9Y6X0-1]
CCDS45859.1. [Q9Y6X0-2]
PIRiT00063.
RefSeqiNP_001123582.1. NM_001130110.1. [Q9Y6X0-2]
NP_056374.2. NM_015559.2. [Q9Y6X0-1]
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:
EMBLi
GenBanki
DDBJi
Links Updated
AB007897 mRNA. Translation: BAA24826.2. Different initiation.
AC015954 Genomic DNA. No translation available.
AC021766 Genomic DNA. No translation available.
AC090376 Genomic DNA. No translation available.
AC105074 Genomic DNA. No translation available.
AC120049 Genomic DNA. No translation available.
BC062338 mRNA. Translation: AAH62338.1.
BC146776 mRNA. Translation: AAI46777.1. Different initiation.
AB022660 mRNA. Translation: BAA82444.1. Different initiation.
CCDSiCCDS11923.2. [Q9Y6X0-1]
CCDS45859.1. [Q9Y6X0-2]
PIRiT00063.
RefSeqiNP_001123582.1. NM_001130110.1. [Q9Y6X0-2]
NP_056374.2. NM_015559.2. [Q9Y6X0-1]
XP_005258300.1. XM_005258243.2. [Q9Y6X0-1]
UniGeneiHs.435458.

3D structure databases

ProteinModelPortaliQ9Y6X0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117506. 15 interactions.
IntActiQ9Y6X0. 2 interactions.
STRINGi9606.ENSP00000282030.

PTM databases

PhosphoSiteiQ9Y6X0.

Polymorphism databases

DMDMi294862494.

Proteomic databases

PaxDbiQ9Y6X0.
PRIDEiQ9Y6X0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi26040.
GeneCardsiGC18P042260.
HGNCiHGNC:15573. SETBP1.
HPAiHPA049022.
HPA057259.
MIMi269150. phenotype.
601626. phenotype.
607785. phenotype.
608232. phenotype.
611060. gene.
614286. phenotype.
616078. phenotype.
neXtProtiNX_Q9Y6X0.
Orphaneti798. Schinzel-Giedion syndrome.
PharmGKBiPA37982.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG317891.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000154293.
HOVERGENiHBG060433.
InParanoidiQ9Y6X0.
OMAiAVIHMAR.
OrthoDBiEOG7ZPNJ4.
PhylomeDBiQ9Y6X0.
TreeFamiTF106416.

Miscellaneous databases

ChiTaRSiSETBP1. human.
GenomeRNAii26040.
NextBioi47871.
PROiQ9Y6X0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y6X0.
CleanExiHS_SETBP1.
ExpressionAtlasiQ9Y6X0. baseline and differential.
GenevestigatoriQ9Y6X0.

Family and domain databases

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

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: INVOLVEMENT IN MRD29.
  8. Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-1162.
  9. Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871.
  10. "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.
  11. "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.
  12. Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870.
  13. 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.
  14. Cited for: VARIANT JMML ASN-868.
  15. 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: February 4, 2015
This is version 117 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.