UniProtKB - Q9Y6X0 (SETBP_HUMAN)

>sp|Q9Y6X0|SETBP_HUMAN SET-binding protein OS=Homo sapiens OX=9606 GN=SETBP1 PE=1 SV=3
MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEE
DELGSGRDVDSNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNL
ENYICPPEIKITIKQSGDQKVSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQ
AYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVTQNCFISPE
SGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNNNKDLLLGGVAPSPSSHSSPA
PPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNPDLDWVKNAQK
AFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK
RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGL
ETGGNAEKVIPGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPS
TMLREAVMATSDKLMLEPPSAYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVET
IHEGTSTSPVSPISREFPGTKKRKRRRNLAKLAQLVPGEDKPMSEMKFHKKVGKLGVLDK
KTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSPGAAAIESKLGKQINVSKRGT
IYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVASSPAAMHPLS
TQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS
HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLD
NPEAIPSDTSTKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEEL
ITKFQVFRISHRSYTFYHENPYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRG
RPAKTNDTMTKVPFLQGFSYPIPSGSYYAPYGMPYTSMPMMNLGYYGQYPAPLYLSHTLG
AASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGPVSMGLGDMQPSLNPPKVGSA
SLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERLSSADKELPLV
SEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT
KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMN
RKERSSYDSSMSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSL
LAASAATSDAVGSSLKKRFKRREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQ
RQSKTGNNFVKKRRGRPRKQPTQFDEDSRDQMPVLEKCIDLPSKRGQKPSLSPLVLEPAA
SQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPPPPPLPKTPRGGKRKHKPQAP
AQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP

Entry version 154 (18 Sep 2019)
Sequence version 3 (20 Apr 2010)
Previous versions | rss

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Protein

SET-binding protein

Gene

SETBP1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Regions

Feature key	Position(s)	DescriptionActions	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

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding

Molecular function

DNA-binding

Enzyme and pathway databases

SIGNORⁱ	Q9Y6X0

SIGNORⁱ

Q9Y6X0

Protein family/group databases

MoonDBⁱ	Q9Y6X0 Predicted

MoonDBⁱ

Q9Y6X0 Predicted

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: SET-binding protein Short name: SEB
Gene namesⁱ	Name:SETBP1 Synonyms:KIAA0437
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 18

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:15573 SETBP1
MIMⁱ	611060 gene
neXtProtⁱ	NX_Q9Y6X0

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Schinzel-Giedion midface retraction syndrome (SGMFS)1 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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 OMIM

Feature key	Position(s)	DescriptionActions	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 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.

Related information in OMIM

Leukemia, 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 OMIM

Feature key	Position(s)	DescriptionActions	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 Publication	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 OMIM

Feature 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 OMIM

Keywords - Diseaseⁱ

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	26040
MalaCards human disease database More...MalaCardsⁱ	SETBP1
MIMⁱ	269150 phenotype 601626 phenotype 607785 phenotype 608232 phenotype 614286 phenotype 616078 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000152217
Orphanetⁱ	436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome 798 Schinzel-Giedion syndrome
PharmGKBⁱ	PA37982

Polymorphism and mutation 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

Acetylation

Proteomic databases

jPOSTⁱ	Q9Y6X0
MassIVEⁱ	Q9Y6X0
PaxDbⁱ	Q9Y6X0
PeptideAtlas More...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 227 organ(s), highest expression level in cerebral cortex
ExpressionAtlasⁱ	Q9Y6X0 baseline and differential
Genevisibleⁱ	Q9Y6X0 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA049022 HPA057259

HPAⁱ

HPA049022
HPA057259

Interactionⁱ

Subunit structureⁱ

Interacts with SET.

1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
KIAA1147	Q9P1C9	3	EBI-2548259,EBI-10318388
PLEKHF2	Q9H8W4	4	EBI-12235818,EBI-742388
SPANXA2	Q9NS26	3	EBI-2548259,EBI-10313181
SPANXC	A0FGX0	4	EBI-12235818,EBI-14796704
SPANXC	Q9NY87	3	EBI-2548259,EBI-10316585
SPANXD	Q9BXN6	3	EBI-2548259,EBI-10301202
SUMO1P1	G2XKQ0	3	EBI-2548259,EBI-10175576
UBE2I	Q7KZS0	3	EBI-2548259,EBI-10180829
XAGE1E	Q9HD64	3	EBI-2548259,EBI-2340004
YAF2	Q8IY57	3	EBI-2548259,EBI-2842031

Protein-protein interaction databases

BioGridⁱ	117506, 17 interactors
IntActⁱ	Q9Y6X0, 15 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y6X0
STRINGⁱ	9606.ENSP00000282030

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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	1520 – 1543	3 X 8 AA tandem repeats of P-P-L-P-P-P-P-PAdd BLAST		24

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG1083 Eukaryota COG2940 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000158784
HOGENOMⁱ	HOG000154293
InParanoidⁱ	Q9Y6X0
KEGG Orthology (KO) More...KOⁱ	K23217
OMAⁱ	HQHSEAS
Database of Orthologous Groups More...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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q9Y6X0-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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

Isoform 2 (identifier: Q9Y6X0-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
181-242: AYERPQKHST...QNCFISPESG → IKDSSKEEVW...SEPAVWAQEV
243-1596: Missing.

« 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 IKDSSKEEVW KRRGGQGIPF 
       210        220        230        240 
KKQFLSQERA MCFSCPRNPF PAKPGSLTLP FHSEPAVWAQ EV

Note: No experimental confirmation available.

Show »

Length:242

Mass (Da):26,397

Checksum:ⁱ185162E51CFF9310

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A2R8YH59	A0A2R8YH59_HUMAN	SET-binding protein SET-binding protein	SETBP1	194	Annotation score:
K7ES17	K7ES17_HUMAN	SET-binding protein SET-binding protein	SETBP1	137	Annotation score:

Sequence cautionⁱ

The sequence AAI46777 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence BAA24826 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence BAA82444 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	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 Publication	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:rs149638556Ensembl.	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11923.2 [Q9Y6X0-1] CCDS45859.1 [Q9Y6X0-2]
PIRⁱ	T00063
NCBI Reference Sequences More...RefSeqⁱ	NP_001123582.1, NM_001130110.1 [Q9Y6X0-2] NP_056374.2, NM_015559.2 [Q9Y6X0-1]

Genome annotation databases

Ensemblⁱ	ENST00000426838; ENSP00000390687; ENSG00000152217 [Q9Y6X0-2] ENST00000649279; ENSP00000497406; ENSG00000152217 [Q9Y6X0-1]
GeneIDⁱ	26040
KEGGⁱ	hsa:26040
UCSC genome browser More...UCSCⁱ	uc002lay.3 human [Q9Y6X0-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6X0	SET-binding protein isoform a (Fragment)		MACMU		199	UniRef100_Q9Y6X0

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6X0	SET-binding protein isoform a (Fragment)		MACMU		199	UniRef90_Q9Y6X0
SET binding protein 1		SAIBB		1634
SET binding protein 1 (Fragment)		PANTR		223
SET-binding protein isoform X1		PHYMC		1627
Uncharacterized protein		SHEEP		1613
+151
Q9Y6X0-2	SETBP1 isoform 2		PONAB		250	UniRef90_Q9Y6X0-2
Uncharacterized protein		CERAT		242
SET binding protein 1		PANTR		242
SET binding protein 1		GORGO		242
Uncharacterized protein		PANPA		242

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6X0	SET-binding protein		MOUSE		1582	UniRef50_Q9Y6X0
SET-binding protein isoform a (Fragment)		MACMU		199
SET binding protein 1		SAIBB		1634
SET binding protein 1 (Fragment)		PANTR		223
SET-binding protein isoform X1		PHYMC		1627
+424
Q9Y6X0-2	SETBP1 isoform 2		PONAB		250	UniRef50_Q9Y6X0-2
Uncharacterized protein		CERAT		242
Uncharacterized protein		PANPA		242
SET binding protein 1		PANTR		242
SET binding protein 1		GORGO		242
+8

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

ModBaseⁱ	Search...
SWISS-MODEL-Workspaceⁱ	Submit a new modelling project...

Protein-protein interaction databases

BioGridⁱ	117506, 17 interactors
IntActⁱ	Q9Y6X0, 15 interactors
MINTⁱ	Q9Y6X0
STRINGⁱ	9606.ENSP00000282030

Protein family/group databases

MoonDBⁱ	Q9Y6X0 Predicted

MoonDBⁱ

Q9Y6X0 Predicted

PTM databases

iPTMnetⁱ	Q9Y6X0
PhosphoSitePlusⁱ	Q9Y6X0

Polymorphism and mutation 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

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000426838; ENSP00000390687; ENSG00000152217 [Q9Y6X0-2] ENST00000649279; ENSP00000497406; ENSG00000152217 [Q9Y6X0-1]
GeneIDⁱ	26040
KEGGⁱ	hsa:26040
UCSCⁱ	uc002lay.3 human [Q9Y6X0-1]

Organism-specific databases

CTDⁱ	26040
DisGeNETⁱ	26040
GeneCardsⁱ	SETBP1
HGNCⁱ	HGNC:15573 SETBP1
HPAⁱ	HPA049022 HPA057259
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
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1083 Eukaryota COG2940 LUCA
GeneTreeⁱ	ENSGT00940000158784
HOGENOMⁱ	HOG000154293
InParanoidⁱ	Q9Y6X0
KOⁱ	K23217
OMAⁱ	HQHSEAS
OrthoDBⁱ	208374at2759
PhylomeDBⁱ	Q9Y6X0
TreeFamⁱ	TF106416

Enzyme and pathway databases

SIGNORⁱ	Q9Y6X0

SIGNORⁱ

Q9Y6X0

Miscellaneous databases

ChiTaRSⁱ	SETBP1 human
GenomeRNAiⁱ	26040
Pharos More...Pharosⁱ	Q9Y6X0
Protein Ontology More...PROⁱ	PR:Q9Y6X0
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000152217 Expressed in 227 organ(s), highest expression level in cerebral cortex
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
ProtoNetⁱ	Search...
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:	September 18, 2019
	This is version 154 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

Complete proteome, Reference proteome

Documents

Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations

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UniProtKB - Q9Y6X0 (SETBP_HUMAN)

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SET-binding protein

SETBP1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ