Q9Y6X0 (SETBP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SET-binding protein
Short name=SEB

Gene names

Name:	SETBP1
Synonyms:	KIAA0437

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1596 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with SET. Ref.5
Subcellular location	Nucleus Ref.5.
Tissue specificity	Expressed in numerous tissues. Ref.5
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
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 component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1596	1596	SET-binding protein		PRO_0000097698
Regions
	Repeat	1520 – 1527	8	1
	Repeat	1528 – 1535	8	2
	Repeat	1536 – 1543	8	3
	DNA binding	584 – 596	13	A.T hook 1
	DNA binding	1016 – 1028	13	A.T hook 2
	DNA binding	1451 – 1463	13	A.T hook 3
	Region	1520 – 1543	24	3 X 8 AA tandem repeats of P-P-L-P-P-P-P-P
Amino acid modifications
	Modified residue	1266	1	Phosphoserine Ref.6
	Modified residue	1272	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	181 – 242	62	AYERP…SPESG → IKDSSKEEVWKRRGGQGIPF KKQFLSQERAMCFSCPRNPF PAKPGSLTLPFHSEPAVWAQ EV in isoform 2.		VSP_039060
	Alternative sequence	243 – 1596	1354	Missing in isoform 2.		VSP_039061
	Natural variant	231	1	V → L. Corresponds to variant rs11082414 [ dbSNP | Ensembl ].		VAR_024347
	Natural variant	868	1	D → A in SGMFS. Ref.8		VAR_063806
	Natural variant	868	1	D → N in SGMFS. Ref.8		VAR_063807
	Natural variant	870	1	G → D in SGMFS. Ref.8		VAR_063808
	Natural variant	870	1	G → S in SGMFS. Ref.8		VAR_063809
	Natural variant	871	1	I → T in SGMFS. Ref.8		VAR_063810
	Natural variant	1101	1	V → I. Ref.1 Ref.4 Ref.5 Corresponds to variant rs3744825 [ dbSNP | Ensembl ].		VAR_054646
	Natural variant	1130	1	P → T. Corresponds to variant rs1064204 [ dbSNP | Ensembl ].		VAR_020317
	Natural variant	1162	1	R → W in a colorectal cancer sample; somatic mutation. Ref.7		VAR_035987

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 20, 2010. Version 3. Checksum: 466A6E0A1A8EEF41	FASTA	1,596	175,008
	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
	Isoform 2 [UniParc]. Checksum: 185162E51CFF9310	FASTA	242	26,397
	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 IKDSSKEEVW KRRGGQGIPF KKQFLSQERA MCFSCPRNPF PAKPGSLTLP FHSEPAVWAQ EV

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. 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. , 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. , 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.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
IPI	IPI00159049. IPI00441195.
PIR	T00063.
RefSeq	NP_001123582.1. NM_001130110.1. NP_056374.2. NM_015559.2.
UniGene	Hs.435458.
3D structure databases
ProteinModelPortal	Q9Y6X0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y6X0. 2 interactions.
STRING	9606.ENSP00000282030.
PTM databases
PhosphoSite	Q9Y6X0.
Polymorphism databases
DMDM	294862494.
Proteomic databases
PaxDb	Q9Y6X0.
PRIDE	Q9Y6X0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282030; ENSP00000282030; ENSG00000152217. ENST00000426838; ENSP00000390687; ENSG00000152217.
GeneID	26040.
KEGG	hsa:26040.
UCSC	uc002lay.3. human. uc010dni.3. human.
Organism-specific databases
CTD	26040.
GeneCards	GC18P042260.
HGNC	HGNC:15573. SETBP1.
MIM	269150. phenotype. 611060. gene.
neXtProt	NX_Q9Y6X0.
Orphanet	798. Schinzel-Giedion syndrome.
PharmGKB	PA37982.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG317891.
HOGENOM	HOG000154293.
HOVERGEN	HBG060433.
InParanoid	Q9Y6X0.
OMA	AVIHMAR.
OrthoDB	EOG44TP74.
Gene expression databases
ArrayExpress	Q9Y6X0.
Bgee	Q9Y6X0.
CleanEx	HS_SETBP1.
Genevestigator	Q9Y6X0.
GermOnline	ENSG00000152217. Homo sapiens.
Family and domain databases
InterPro	IPR017956. AT_hook_DNA-bd_motif. [Graphical view]
SMART	SM00384. AT_hook. 3 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SETBP1. human.
GenomeRNAi	26040.
NextBio	47871.
SOURCE	Search...

Entry information

Entry name

SETBP_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 102 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.