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UniProtKB - Q9Y6X0 (SETBP_HUMAN)
Protein
SET-binding protein
Gene
SETBP1
Organism
Homo sapiens (Human)
Status
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 584 – 596 | A.T hook 1Add BLAST | 13 | |
DNA bindingi | 1016 – 1028 | A.T hook 2Add BLAST | 13 | |
DNA bindingi | 1451 – 1463 | A.T hook 3Add BLAST | 13 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
Keywordsi
Molecular function | DNA-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6X0 |
SignaLinki | Q9Y6X0 |
SIGNORi | Q9Y6X0 |
Protein family/group databases
MoonDBi | Q9Y6X0, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: SET-binding proteinShort name: SEB |
Gene namesi | Name:SETBP1 Synonyms:KIAA0437 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15573, SETBP1 |
MIMi | 611060, gene |
neXtProti | NX_Q9Y6X0 |
VEuPathDBi | HostDB:ENSG00000152217 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Schinzel-Giedion midface retraction syndrome (SGMFS)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063806 | 868 | D → A in SGMFS. 1 PublicationCorresponds to variant dbSNP:rs267607041EnsemblClinVar. | 1 | |
Natural variantiVAR_063807 | 868 | D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs267607042EnsemblClinVar. | 1 | |
Natural variantiVAR_063808 | 870 | G → D in SGMFS. 2 PublicationsCorresponds to variant dbSNP:rs267607039EnsemblClinVar. | 1 | |
Natural variantiVAR_063809 | 870 | G → 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 PublicationsCorresponds to variant dbSNP:rs267607040EnsemblClinVar. | 1 | |
Natural variantiVAR_063810 | 871 | I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 PublicationsCorresponds to variant dbSNP:rs267607038EnsemblClinVar. | 1 |
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)2 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).
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063807 | 868 | D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs267607042EnsemblClinVar. | 1 | |
Natural variantiVAR_069852 | 869 | S → N in MDS and myeloid malignancies. 2 Publications | 1 | |
Natural variantiVAR_069857 | 873 | T → R in MDS and myeloid malignancies. 2 Publications | 1 |
Mental retardation, autosomal dominant 29 (MRD29)1 Publication
The disease is caused by variants 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.
Related information in OMIMLeukemia, acute myelogenous (AML)2 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069848 | 854 | S → A in AML. 1 Publication | 1 | |
Natural variantiVAR_069854 | 870 | G → R in AML. 1 Publication | 1 | |
Natural variantiVAR_063809 | 870 | G → 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 PublicationsCorresponds to variant dbSNP:rs267607040EnsemblClinVar. | 1 | |
Natural variantiVAR_069856 | 871 | I → S in AML. 1 PublicationCorresponds to variant dbSNP:rs267607038EnsemblClinVar. | 1 |
Leukemia, chronic myeloid, atypical (ACML)1 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069849 | 858 | E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 PublicationsCorresponds to variant dbSNP:rs1178702025EnsemblClinVar. | 1 | |
Natural variantiVAR_063810 | 871 | I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 PublicationsCorresponds to variant dbSNP:rs267607038EnsemblClinVar. | 1 |
Leukemia, juvenile myelomonocytic (JMML)1 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.
Related information in OMIMKeywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 26040 |
GeneReviewsi | SETBP1 |
MalaCardsi | SETBP1 |
MIMi | 269150, phenotype 601626, phenotype 607785, phenotype 608232, phenotype 614286, phenotype 616078, phenotype |
OpenTargetsi | ENSG00000152217 |
Orphaneti | 436151, Intellectual disability-expressive aphasia-facial dysmorphism syndrome 798, Schinzel-Giedion syndrome |
PharmGKBi | PA37982 |
Miscellaneous databases
Pharosi | Q9Y6X0, Tbio |
Genetic variation databases
BioMutai | SETBP1 |
DMDMi | 294862494 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097698 | 1 – 1596 | SET-binding proteinAdd BLAST | 1596 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 817 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
jPOSTi | Q9Y6X0 |
MassIVEi | Q9Y6X0 |
PaxDbi | Q9Y6X0 |
PeptideAtlasi | Q9Y6X0 |
PRIDEi | Q9Y6X0 |
ProteomicsDBi | 86807 [Q9Y6X0-1] 86808 [Q9Y6X0-2] |
PTM databases
iPTMneti | Q9Y6X0 |
PhosphoSitePlusi | Q9Y6X0 |
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
Bgeei | ENSG00000152217, Expressed in cerebral cortex and 236 other tissues |
ExpressionAtlasi | Q9Y6X0, baseline and differential |
Genevisiblei | Q9Y6X0, HS |
Organism-specific databases
HPAi | ENSG00000152217, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with SET.
1 PublicationBinary interactionsi
Q9Y6X0
Isoform 2 [Q9Y6X0-2]
With | #Exp. | IntAct |
---|---|---|
PLEKHF2 [Q9H8W4] | 6 | EBI-12235818,EBI-742388 |
SPANXA2 [Q9NS26] | 3 | EBI-12235818,EBI-10313181 |
SPANXD [Q9BXN6] | 3 | EBI-12235818,EBI-10301202 |
UBE2I [Q7KZS0] | 3 | EBI-12235818,EBI-10180829 |
Protein-protein interaction databases
BioGRIDi | 117506, 20 interactors |
IntActi | Q9Y6X0, 15 interactors |
MINTi | Q9Y6X0 |
STRINGi | 9606.ENSP00000282030 |
Miscellaneous databases
RNActi | Q9Y6X0, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9Y6X0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 1520 – 1527 | 1 | 8 | |
Repeati | 1528 – 1535 | 2 | 8 | |
Repeati | 1536 – 1543 | 3 | 8 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 83 | DisorderedSequence analysisAdd BLAST | 83 | |
Regioni | 134 – 426 | DisorderedSequence analysisAdd BLAST | 293 | |
Regioni | 475 – 518 | DisorderedSequence analysisAdd BLAST | 44 | |
Regioni | 604 – 624 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 722 – 763 | DisorderedSequence analysisAdd BLAST | 42 | |
Regioni | 777 – 796 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 854 – 889 | DisorderedSequence analysisAdd BLAST | 36 | |
Regioni | 1134 – 1164 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 1202 – 1225 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 1245 – 1300 | DisorderedSequence analysisAdd BLAST | 56 | |
Regioni | 1325 – 1344 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 1440 – 1473 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 1518 – 1596 | DisorderedSequence analysisAdd BLAST | 79 | |
Regioni | 1520 – 1543 | 3 X 8 AA tandem repeats of P-P-L-P-P-P-P-PAdd BLAST | 24 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 145 – 163 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 208 – 248 | Polar residuesSequence analysisAdd BLAST | 41 | |
Compositional biasi | 266 – 311 | Polar residuesSequence analysisAdd BLAST | 46 | |
Compositional biasi | 378 – 399 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 727 – 747 | Basic and acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 854 – 882 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 1145 – 1160 | Basic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 1202 – 1223 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 1257 – 1292 | Polar residuesSequence analysisAdd BLAST | 36 | |
Compositional biasi | 1459 – 1473 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1518 – 1547 | Pro residuesSequence analysisAdd BLAST | 30 | |
Compositional biasi | 1576 – 1596 | Basic and acidic residuesSequence analysisAdd BLAST | 21 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG1083, Eukaryota |
GeneTreei | ENSGT00940000158784 |
HOGENOMi | CLU_005903_0_0_1 |
InParanoidi | Q9Y6X0 |
OMAi | CDNLPGR |
OrthoDBi | 208374at2759 |
PhylomeDBi | Q9Y6X0 |
TreeFami | TF106416 |
Family and domain databases
InterProi | View protein in InterPro IPR017956, AT_hook_DNA-bd_motif |
SMARTi | View protein in SMART SM00384, AT_hook, 3 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y6X0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A7I2V4X1 | A0A7I2V4X1_HUMAN | SET-binding protein | SETBP1 | 1,539 | Annotation score: |
Sequence cautioni
The sequence AAI46777 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA24826 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA82444 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_024347 | 231 | V → L. Corresponds to variant dbSNP:rs11082414EnsemblClinVar. | 1 | |
Natural variantiVAR_069848 | 854 | S → A in AML. 1 Publication | 1 | |
Natural variantiVAR_069849 | 858 | E → K in ACML; somatic mutation in ACML and other myeloid malignancies. 2 PublicationsCorresponds to variant dbSNP:rs1178702025EnsemblClinVar. | 1 | |
Natural variantiVAR_063806 | 868 | D → A in SGMFS. 1 PublicationCorresponds to variant dbSNP:rs267607041EnsemblClinVar. | 1 | |
Natural variantiVAR_069850 | 868 | D → G in myeloid malignancies. 1 Publication | 1 | |
Natural variantiVAR_063807 | 868 | D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs267607042EnsemblClinVar. | 1 | |
Natural variantiVAR_069851 | 868 | D → Y in myeloid malignancies. 2 Publications | 1 | |
Natural variantiVAR_069852 | 869 | S → N in MDS and myeloid malignancies. 2 Publications | 1 | |
Natural variantiVAR_069853 | 869 | S → R in myeloid malignancies. 1 Publication | 1 | |
Natural variantiVAR_063808 | 870 | G → D in SGMFS. 2 PublicationsCorresponds to variant dbSNP:rs267607039EnsemblClinVar. | 1 | |
Natural variantiVAR_069854 | 870 | G → R in AML. 1 Publication | 1 | |
Natural variantiVAR_063809 | 870 | G → 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 PublicationsCorresponds to variant dbSNP:rs267607040EnsemblClinVar. | 1 | |
Natural variantiVAR_069855 | 870 | G → V in myeloid malignancies. 1 Publication | 1 | |
Natural variantiVAR_069856 | 871 | I → S in AML. 1 PublicationCorresponds to variant dbSNP:rs267607038EnsemblClinVar. | 1 | |
Natural variantiVAR_063810 | 871 | I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. 3 PublicationsCorresponds to variant dbSNP:rs267607038EnsemblClinVar. | 1 | |
Natural variantiVAR_069857 | 873 | T → R in MDS and myeloid malignancies. 2 Publications | 1 | |
Natural variantiVAR_069858 | 874 | D → N in myeloid malignancies. 1 Publication | 1 | |
Natural variantiVAR_069859 | 880 | D → A in myeloid malignancies. 1 Publication | 1 | |
Natural variantiVAR_069860 | 880 | D → E in myeloid malignancies. 1 Publication | 1 | |
Natural variantiVAR_069861 | 880 | D → N in myeloid malignancies. | 1 | |
Natural variantiVAR_069862 | 908 | D → N in myeloid malignancies. 1 PublicationCorresponds to variant dbSNP:rs559186877Ensembl. | 1 | |
Natural variantiVAR_054646 | 1101 | V → I3 PublicationsCorresponds to variant dbSNP:rs3744825EnsemblClinVar. | 1 | |
Natural variantiVAR_020317 | 1130 | P → T. Corresponds to variant dbSNP:rs1064204EnsemblClinVar. | 1 | |
Natural variantiVAR_035987 | 1162 | R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs778181199Ensembl. | 1 | |
Natural variantiVAR_069863 | 1321 | R → H1 PublicationCorresponds to variant dbSNP:rs149638556EnsemblClinVar. | 1 | |
Natural variantiVAR_069864 | 1377 | V → L1 PublicationCorresponds to variant dbSNP:rs77518617EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039060 | 181 – 242 | AYERP…SPESG → IKDSSKEEVWKRRGGQGIPF KKQFLSQERAMCFSCPRNPF PAKPGSLTLPFHSEPAVWAQ EV in isoform 2. 1 PublicationAdd BLAST | 62 | |
Alternative sequenceiVSP_039061 | 243 – 1596 | Missing in isoform 2. 1 PublicationAdd BLAST | 1354 |
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. |
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] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
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] |
3D structure databases
AlphaFoldDBi | Q9Y6X0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117506, 20 interactors |
IntActi | Q9Y6X0, 15 interactors |
MINTi | Q9Y6X0 |
STRINGi | 9606.ENSP00000282030 |
Protein family/group databases
MoonDBi | Q9Y6X0, Predicted |
PTM databases
iPTMneti | Q9Y6X0 |
PhosphoSitePlusi | Q9Y6X0 |
Genetic variation databases
BioMutai | SETBP1 |
DMDMi | 294862494 |
Proteomic databases
jPOSTi | Q9Y6X0 |
MassIVEi | Q9Y6X0 |
PaxDbi | Q9Y6X0 |
PeptideAtlasi | Q9Y6X0 |
PRIDEi | Q9Y6X0 |
ProteomicsDBi | 86807 [Q9Y6X0-1] 86808 [Q9Y6X0-2] |
Protocols and materials databases
Antibodypediai | 22406, 174 antibodies from 25 providers |
DNASUi | 26040 |
Genome annotation databases
Organism-specific databases
CTDi | 26040 |
DisGeNETi | 26040 |
GeneCardsi | SETBP1 |
GeneReviewsi | SETBP1 |
HGNCi | HGNC:15573, SETBP1 |
HPAi | ENSG00000152217, Low tissue specificity |
MalaCardsi | SETBP1 |
MIMi | 269150, phenotype 601626, phenotype 607785, phenotype 608232, phenotype 611060, gene 614286, phenotype 616078, phenotype |
neXtProti | NX_Q9Y6X0 |
OpenTargetsi | ENSG00000152217 |
Orphaneti | 436151, Intellectual disability-expressive aphasia-facial dysmorphism syndrome 798, Schinzel-Giedion syndrome |
PharmGKBi | PA37982 |
VEuPathDBi | HostDB:ENSG00000152217 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1083, Eukaryota |
GeneTreei | ENSGT00940000158784 |
HOGENOMi | CLU_005903_0_0_1 |
InParanoidi | Q9Y6X0 |
OMAi | CDNLPGR |
OrthoDBi | 208374at2759 |
PhylomeDBi | Q9Y6X0 |
TreeFami | TF106416 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6X0 |
SignaLinki | Q9Y6X0 |
SIGNORi | Q9Y6X0 |
Miscellaneous databases
BioGRID-ORCSi | 26040, 9 hits in 1076 CRISPR screens |
ChiTaRSi | SETBP1, human |
GenomeRNAii | 26040 |
Pharosi | Q9Y6X0, Tbio |
PROi | PR:Q9Y6X0 |
RNActi | Q9Y6X0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000152217, Expressed in cerebral cortex and 236 other tissues |
ExpressionAtlasi | Q9Y6X0, baseline and differential |
Genevisiblei | Q9Y6X0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017956, AT_hook_DNA-bd_motif |
SMARTi | View protein in SMART SM00384, AT_hook, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | SETBP_HUMAN | |
Accessioni | Q9Y6X0Primary (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: | May 25, 2022 | |
This is version 169 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot