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Q9Y6X0 (SETBP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SET-binding protein

Short name=SEB
Gene names
Name:SETBP1
Synonyms:KIAA0437
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1596 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with SET. Ref.5

Subcellular location

Nucleus Ref.5.

Tissue specificity

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. Ref.5 Ref.14

Involvement in disease

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. Ref.8

SETBP1 somatic mutations are frequently found in myeloid malignancies. They cause gain of function associated with myeloid leukemic transformation (Ref.14). 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 (Ref.10).

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. Ref.9 Ref.11

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. Ref.9 Ref.11

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. Ref.12

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. Ref.13

Sequence similarities

Contains 3 A.T hook DNA-binding domains.

Sequence caution

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.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
   LigandDNA-binding
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y6X0-1)

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.
Isoform 2 (identifier: Q9Y6X0-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15961596SET-binding protein
PRO_0000097698

Regions

Repeat1520 – 152781
Repeat1528 – 153582
Repeat1536 – 154383
DNA binding584 – 59613A.T hook 1
DNA binding1016 – 102813A.T hook 2
DNA binding1451 – 146313A.T hook 3
Region1520 – 1543243 X 8 AA tandem repeats of P-P-L-P-P-P-P-P

Amino acid modifications

Modified residue8171N6-acetyllysine By similarity
Modified residue12661Phosphoserine Ref.6
Modified residue12721Phosphoserine Ref.6

Natural variations

Alternative sequence181 – 24262AYERP…SPESG → IKDSSKEEVWKRRGGQGIPF KKQFLSQERAMCFSCPRNPF PAKPGSLTLPFHSEPAVWAQ EV in isoform 2.
VSP_039060
Alternative sequence243 – 15961354Missing in isoform 2.
VSP_039061
Natural variant2311V → L.
Corresponds to variant rs11082414 [ dbSNP | Ensembl ].
VAR_024347
Natural variant8541S → A in AML. Ref.11
VAR_069848
Natural variant8581E → K in ACML; somatic mutation in ACML and other myeloid malignancies. Ref.10 Ref.12
VAR_069849
Natural variant8681D → A in SGMFS. Ref.8
VAR_063806
Natural variant8681D → G in myeloid malignancies. Ref.10
VAR_069850
Natural variant8681D → N in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation. Ref.8 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14
VAR_063807
Natural variant8681D → Y in myeloid malignancies. Ref.10 Ref.14
VAR_069851
Natural variant8691S → N in MDS and myeloid malignancies. Ref.11 Ref.14
VAR_069852
Natural variant8691S → R in myeloid malignancies. Ref.10
VAR_069853
Natural variant8701G → D in SGMFS. Ref.8 Ref.10
VAR_063808
Natural variant8701G → R in AML. Ref.9
VAR_069854
Natural variant8701G → 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. Ref.8 Ref.10 Ref.11 Ref.12
VAR_063809
Natural variant8701G → V in myeloid malignancies. Ref.10
VAR_069855
Natural variant8711I → S in AML. Ref.9
VAR_069856
Natural variant8711I → T in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. Ref.8 Ref.10 Ref.12
VAR_063810
Natural variant8731T → R in MDS and myeloid malignancies. Ref.9 Ref.10
VAR_069857
Natural variant8741D → N in myeloid malignancies. Ref.10
VAR_069858
Natural variant8801D → A in myeloid malignancies. Ref.14
VAR_069859
Natural variant8801D → E in myeloid malignancies. Ref.14
VAR_069860
Natural variant8801D → N in myeloid malignancies.
VAR_069861
Natural variant9081D → N in myeloid malignancies. Ref.10
VAR_069862
Natural variant11011V → I. Ref.1 Ref.4 Ref.5
Corresponds to variant rs3744825 [ dbSNP | Ensembl ].
VAR_054646
Natural variant11301P → T.
Corresponds to variant rs1064204 [ dbSNP | Ensembl ].
VAR_020317
Natural variant11621R → W in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035987
Natural variant13211R → H. Ref.12
Corresponds to variant rs149638556 [ dbSNP | Ensembl ].
VAR_069863
Natural variant13771V → L. Ref.12
Corresponds to variant rs77518617 [ dbSNP | Ensembl ].
VAR_069864

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 20, 2010. Version 3.
Checksum: 466A6E0A1A8EEF41

FASTA1,596175,008
        10         20         30         40         50         60 
MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV GGERMEPEEE 

        70         80         90        100        110        120 
DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE GSLKLKIQTT KRAKKPPKNL 

       130        140        150        160        170        180 
ENYICPPEIK ITIKQSGDQK VSRAGKNSKA TKEEERSHSK KKLLTASDLA ASDLKGFQPQ 

       190        200        210        220        230        240 
AYERPQKHST LHYDTGLPQD FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE 

       250        260        270        280        290        300 
SGRETASTSK IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA 

       310        320        330        340        350        360 
PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP DLDWVKNAQK 

       370        380        390        400        410        420 
AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV RITIPIKAPS LDPTNHKRKK 

       430        440        450        460        470        480 
RQSIKAVVEK IMPEKALASG ITMSSEVVNR ILSNSEGNKK DPRVPKLSKM IENESPSVGL 

       490        500        510        520        530        540 
ETGGNAEKVI PGGVSKPRKP PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS 

       550        560        570        580        590        600 
TMLREAVMAT SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET 

       610        620        630        640        650        660 
IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK KVGKLGVLDK 

       670        680        690        700        710        720 
KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP GAAAIESKLG KQINVSKRGT 

       730        740        750        760        770        780 
IYIGKKRGRK PRAELPPPSE EPKTAIKHPR PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS 

       790        800        810        820        830        840 
TQLGGSNGNL SPASTETNFS ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS 

       850        860        870        880        890        900 
HLCEIGSLKE ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD 

       910        920        930        940        950        960 
NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD LQFLADLEEL 

       970        980        990       1000       1010       1020 
ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ YDPLLYLRRT SDLKSKKKRG 

      1030       1040       1050       1060       1070       1080 
RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP YGMPYTSMPM MNLGYYGQYP APLYLSHTLG 

      1090       1100       1110       1120       1130       1140 
AASPFMRPTV PPPQFHTNSH VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA 

      1150       1160       1170       1180       1190       1200 
SLSSGRLHKR KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV 

      1210       1220       1230       1240       1250       1260 
SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD LSSEPVDSCT 

      1270       1280       1290       1300       1310       1320 
KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR RSYEGFGTYR EKDIQAFKMN 

      1330       1340       1350       1360       1370       1380 
RKERSSYDSS MSPGMPSPHL KVDQTAVHSK NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL 

      1390       1400       1410       1420       1430       1440 
LAASAATSDA VGSSLKKRFK RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ 

      1450       1460       1470       1480       1490       1500 
RQSKTGNNFV KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA 

      1510       1520       1530       1540       1550       1560 
SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG GKRKHKPQAP 

      1570       1580       1590 
AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP 

« Hide

Isoform 2 [UniParc].

Checksum: 185162E51CFF9310
Show »

FASTA24226,397

References

« Hide 'large scale' references
[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]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-1162.
[8]"De novo mutations of SETBP1 cause Schinzel-Giedion syndrome."
Hoischen A., van Bon B.W., Gilissen C., Arts P., van Lier B., Steehouwer M., de Vries P., de Reuver R., Wieskamp N., Mortier G., Devriendt K., Amorim M.Z., Revencu N., Kidd A., Barbosa M., Turner A., Smith J., Oley C. expand/collapse author list , Henderson A., Hayes I.M., Thompson E.M., Brunner H.G., de Vries B.B., Veltman J.A.
Nat. Genet. 42:483-485(2010) [PubMed] [Europe PMC] [Abstract]
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]"SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany."
Thol F., Suchanek K.J., Koenecke C., Stadler M., Platzbecker U., Thiede C., Schroeder T., Kobbe G., Kade S., Loffeld P., Banihosseini S., Bug G., Ottmann O., Hofmann W.K., Krauter J., Kroger N., Ganser A., Heuser M.
Leukemia 27:2072-2075(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870.
[12]"Recurrent SETBP1 mutations in atypical chronic myeloid leukemia."
Piazza R., Valletta S., Winkelmann N., Redaelli S., Spinelli R., Pirola A., Antolini L., Mologni L., Donadoni C., Papaemmanuil E., Schnittger S., Kim D.W., Boultwood J., Rossi F., Gaipa G., De Martini G.P., di Celle P.F., Jang H.G. expand/collapse author list , Fantin V., Bignell G.R., Magistroni V., Haferlach T., Pogliani E.M., Campbell P.J., Chase A.J., Tapper W.J., Cross N.C., Gambacorti-Passerini C.
Nat. Genet. 45:18-24(2013) [PubMed] [Europe PMC] [Abstract]
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]"Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia."
Sakaguchi H., Okuno Y., Muramatsu H., Yoshida K., Shiraishi Y., Takahashi M., Kon A., Sanada M., Chiba K., Tanaka H., Makishima H., Wang X., Xu Y., Doisaki S., Hama A., Nakanishi K., Takahashi Y., Yoshida N. expand/collapse author list , Maciejewski J.P., Miyano S., Ogawa S., Kojima S.
Nat. Genet. 45:937-941(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JMML ASN-868.
[14]"Somatic SETBP1 mutations in myeloid malignancies."
Makishima H., Yoshida K., Nguyen N., Przychodzen B., Sanada M., Okuno Y., Ng K.P., Gudmundsson K.O., Vishwakarma B.A., Jerez A., Gomez-Segui I., Takahashi M., Shiraishi Y., Nagata Y., Guinta K., Mori H., Sekeres M.A., Chiba K. expand/collapse author list , Tanaka H., Muramatsu H., Sakaguchi H., Paquette R.L., McDevitt M.A., Kojima S., Saunthararajah Y., Miyano S., Shih L.Y., Du Y., Ogawa S., Maciejewski J.P.
Nat. Genet. 45:942-946(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT00063.
RefSeqNP_001123582.1. NM_001130110.1.
NP_056374.2. NM_015559.2.
XP_005258300.1. XM_005258243.2.
UniGeneHs.435458.

3D structure databases

ProteinModelPortalQ9Y6X0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117506. 3 interactions.
IntActQ9Y6X0. 2 interactions.
STRING9606.ENSP00000282030.

PTM databases

PhosphoSiteQ9Y6X0.

Polymorphism databases

DMDM294862494.

Proteomic databases

PaxDbQ9Y6X0.
PRIDEQ9Y6X0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282030; ENSP00000282030; ENSG00000152217. [Q9Y6X0-1]
ENST00000426838; ENSP00000390687; ENSG00000152217. [Q9Y6X0-2]
GeneID26040.
KEGGhsa:26040.
UCSCuc002lay.3. human. [Q9Y6X0-2]
uc010dni.3. human. [Q9Y6X0-1]

Organism-specific databases

CTD26040.
GeneCardsGC18P042260.
HGNCHGNC:15573. SETBP1.
HPAHPA049022.
HPA057259.
MIM269150. phenotype.
601626. phenotype.
607785. phenotype.
608232. phenotype.
611060. gene.
614286. phenotype.
neXtProtNX_Q9Y6X0.
Orphanet798. Schinzel-Giedion syndrome.
PharmGKBPA37982.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG317891.
HOGENOMHOG000154293.
HOVERGENHBG060433.
InParanoidQ9Y6X0.
OMAAVIHMAR.
OrthoDBEOG7ZPNJ4.
PhylomeDBQ9Y6X0.
TreeFamTF106416.

Gene expression databases

ArrayExpressQ9Y6X0.
BgeeQ9Y6X0.
CleanExHS_SETBP1.
GenevestigatorQ9Y6X0.

Family and domain databases

InterProIPR017956. AT_hook_DNA-bd_motif.
[Graphical view]
SMARTSM00384. AT_hook. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSETBP1. human.
GenomeRNAi26040.
NextBio47871.
PROQ9Y6X0.
SOURCESearch...

Entry information

Entry nameSETBP_HUMAN
AccessionPrimary (citable) accession number: Q9Y6X0
Secondary accession number(s): A6H8W5, Q6P6C3, Q9UEF3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 20, 2010
Last modified: April 16, 2014
This is version 110 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM