Q9Y6X0

※ Protein Information

Tag	Content
UniProt Accession	SETBP_HUMAN; Q9Y6X0;
Entrez ID	26040
GenBank Protein ID	NM_001130110.1; NM_015559.2;
GenBank Nucleotide ID	NP_001123582.1; NP_056374.2;
Protein Name	SET-binding protein (SEB)
Gene Name	SETBP1; KIAA0437
Organism	Homo sapiens
NCBI Taxa ID	9606
Sequence (Fasta)	MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV GGERMEPEEE 60 DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE GSLKLKIQTT KRAKKPPKNL 120 ENYICPPEIK ITIKQSGDQK VSRAGKNSKA TKEEERSHSK KKLLTASDLA ASDLKGFQPQ 180 AYERPQKHST LHYDTGLPQD FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE 240 SGRETASTSK IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA 300 PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP DLDWVKNAQK 360 AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV RITIPIKAPS LDPTNHKRKK 420 RQSIKAVVEK IMPEKALASG ITMSSEVVNR ILSNSEGNKK DPRVPKLSKM IENESPSVGL 480 ETGGNAEKVI PGGVSKPRKP PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS 540 TMLREAVMAT SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET 600 IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK KVGKLGVLDK 660 KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP GAAAIESKLG KQINVSKRGT 720 IYIGKKRGRK PRAELPPPSE EPKTAIKHPR PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS 780 TQLGGSNGNL SPASTETNFS ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS 840 HLCEIGSLKE ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD 900 NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD LQFLADLEEL 960 ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ YDPLLYLRRT SDLKSKKKRG 1020 RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP YGMPYTSMPM MNLGYYGQYP APLYLSHTLG 1080 AASPFMRPTV PPPQFHTNSH VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA 1140 SLSSGRLHKR KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV 1200 SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD LSSEPVDSCT 1260 KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR RSYEGFGTYR EKDIQAFKMN 1320 RKERSSYDSS MSPGMPSPHL KVDQTAVHSK NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL 1380 LAASAATSDA VGSSLKKRFK RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ 1440 RQSKTGNNFV KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA 1500 SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG GKRKHKPQAP 1560 AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP 1597 Fasta Sequence >Q9Y6X0\|SETBP1; KIAA0437\|Homo sapiens (Human) MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEEDELGSGRDVDSNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNLENYICPPEIKITIKQSGDQKVSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQAYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVTQNCFISPESGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNNNKDLLLGGVAPSPSSHSSPAPPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNPDLDWVKNAQKAFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKKRQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGLETGGNAEKVIPGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPSTMLREAVMATSDKLMLEPPSAYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVETIHEGTSTSPVSPISREFPGTKKRKRRRNLAKLAQLVPGEDKPMSEMKFHKKVGKLGVLDKKTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSPGAAAIESKLGKQINVSKRGTIYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVASSPAAMHPLSTQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPSHLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLDNPEAIPSDTSTKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEELITKFQVFRISHRSYTFYHENPYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRGRPAKTNDTMTKVPFLQGFSYPIPSGSYYAPYGMPYTSMPMMNLGYYGQYPAPLYLSHTLGAASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGPVSMGLGDMQPSLNPPKVGSASLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERLSSADKELPLVSEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCTKRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMNRKERSSYDSSMSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSLLAASAATSDAVGSSLKKRFKRREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQRQSKTGNNFVKKRRGRPRKQPTQFDEDSRDQMPVLEKCIDLPSKRGQKPSLSPLVLEPAASQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPPPPPLPKTPRGGKRKHKPQAPAQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Ubiquitination	Atypical chronic myeloid leukemia		N		23222956
1	[Reference]: The p.Gly870Ser alteration abrogated a site for ubiquitination, and cells exogenously expressing this mutant exhibited higher amounts of SETBP1 and SET protein, lower PP2A activity and higher proliferation rates relative to those expressing the wild-type protein

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	aCML, sAML, MDS/MPN-U, CMML, JMML neuroepithelial tumours Schinzel-Giedion syndrome
CTD (Curated) (count: 12) (view all)	MESH:D000015 ; Abnormalities, Multiple MESH:D001943 ; Breast Neoplasms MESH:D019465 ; Craniofacial Abnormalities MESH:D008607 ; Intellectual Disability MESH:D007805 ; Language Development Disorders MESH:D007951 ; Leukemia, Myeloid MESH:D054438 ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative MESH:D054429 ; Leukemia, Myelomonocytic, Juvenile OMIM:616078 ; MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 MESH:D065886 ; Neurodevelopmental Disorders MESH:C536632 ; Schinzel-Giedion syndrome MESH:D015430 ; Weight Gain
DisGeNet (Curated) (count: 113) (view all)	C0005745; Blepharoptosis C0009081; Congenital clubfoot C0014544; Epilepsy C0018817; Atrial Septal Defects C0020295; Hydronephrosis C0020534; Orbital separation excessive C0020555; Hypertrichosis C0023014; Language Development Disorders C0023467; Leukemia, Myelocytic, Acute C0023470; Myeloid Leukemia C0023473; Myeloid Leukemia, Chronic C0024421; Macroglossia C0025362; Mental Retardation C0036572; Seizures C0039538; Teratoma C0040433; Tooth Crowding C0043094; Weight Gain C0151818; Opisthotonus C0154671; Degenerative brain disorder C0206624; Hepatoblastoma C0221356; Brachycephaly C0222716; Structure of wormian bone C0231246; Failure to gain weight C0235946; Cerebral atrophy C0239234; Low set ears C0239676; High forehead C0240635; Byzanthine arch palate C0265227; Schinzel-Giedion syndrome C0266387; Bicornuate uterus C0266435; Congenital hypoplasia of penis C0344482; Hypoplasia of corpus callosum C0349639; Juvenile Myelomonocytic Leukemia C0376634; Craniofacial Abnormalities C0423110; Downward slant of palpebral fissure C0423807; Overcurvature of nail C0423903; Low intelligence C0424731; Single transverse palmar crease C0426414; Small nose C0426808; Long clavicle C0431447; Synophrys C0431659; Hypoplasia of scrotum C0431904; Ulnar polydactyly of fingers C0432355; Hypoplasia of nipple C0521525; Short neck C0521618; Stenosis of ureter C0521620; Dilatation of ureter C0566899; Small labia majora C0575497; Short sternum C0584837; Choanal stenosis C0684276; Hypsarrhythmia C0746940; nonverbal C0917816; Mental deficiency C1263846; Attention deficit hyperactivity disorder C1292772; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative C1317785; Tooth size discrepancy C1398312; Narrow palate C1458155; Mammary Neoplasms C1691215; Penile hypospadias C1834386; Hypoplasia of first ribs C1836047; Long face C1836542; Depressed nasal bridge C1837081; Tibial bowing C1837260; Prominent forehead C1839829; Short distal phalanges C1840077; Anteverted nostril C1840418; Thickened cortex of long bones C1843367; Poor school performance C1844505; Pointed chin C1845847; Coarse facial features C1848654; Broad ribs C1849295; Hypoplastic labia minora C1849300; Widely patent fontanels and sutures C1849305; Hypoplastic/aplastic pubic bones C1849307; Increased density of long bones C1849309; Wide distal metaphysis of femur C1849311; Short first metacarpals C1851714; Sclerosis of skull base C1853242; Midface retrusion C1854114; Short nose C1854301; Motor delay C1854882; Absent speech C1857679; Sloping forehead C1858085; Malar flattening C1859778; Postnatal growth retardation C1861443; Facial hemangioma C1865017; Thin upper lip vermilion C1865244; Shallow orbits C1867446; Bulging forehead C2315100; Pediatric failure to thrive C2673410; Small midface C2677762; Tall forehead C3278923; Dilated ventricles (finding) C3463824; MYELODYSPLASTIC SYNDROME C3550546; Depressed nasal root/bridge C3714756; Intellectual Disability C4020860; Supratentorial atrophy C4020874; No development of motor milestones C4020876; Dull intelligence C4020883; Hypoplastic sternum C4020897; Uroureter C4025189; Metopic suture patent to nasal root C4025750; Abnormality of the nasopharynx C4072823; Broad cranium shape C4072824; Wide skull shape C4072825; Thickened facial skin with coarse facial features C4072847; HyperCalcification of skull base C4072848; HyperMineralization of skull base C4280320; Hypotrophic midface C4280321; Decreased projection of midface C4280495; Concave bridge of nose C4280617; Tooth mass arch size discrepancy C4280618; Inadequate arch length for tooth size C4280651; Hypotrophic malar bone
GWASdb (count: 29) (view all)	rs12958322; Multiple complex diseases; Null rs17782904; IgE levels; selective IgE deficiency disease rs17710169; IgE levels; selective IgE deficiency disease rs11082403; Triglycerides; coronary artery disease\|lipid metabolism disorder\|arteriosclerosis rs11082403; Polyunsaturated fatty acid levels, in plasma; diabetes mellitus\|cardiovascular system disease\|dementia\|mental depression rs11082403; IgE levels; selective IgE deficiency disease rs17710446; Type 2 diabetes; type 2 diabetes mellitus rs17783459; Platelet thrombus as measured by PFA-100ColA closure time upon shear stress; Null rs16978185; Multiple complex diseases; Null rs6507588; Diabetes Mellitus; diabetes mellitus rs9956543; Multiple complex diseases; Null rs12965289; White matter hyperintensity burden; brain disease\|brain ischemia\|cerebral arterial disease rs665997; White matter hyperintensity burden; brain disease\|brain ischemia\|cerebral arterial disease rs622759; White matter hyperintensity burden; brain disease\|brain ischemia\|cerebral arterial disease rs991014; Ventricular conduction; heart conduction disease rs678726; White matter hyperintensity burden; brain disease\|brain ischemia\|cerebral arterial disease rs654269; White matter hyperintensity burden; brain disease\|brain ischemia\|cerebral arterial disease rs11660213; Prion diseases; prion disease rs616444; Type 2 diabetes; type 2 diabetes mellitus rs3744825; White matter integrity; bipolar disorder\|brain disease rs9783858; Urinary metabolites; kidney disease rs17726928; Urinary metabolites; kidney disease rs9962988; Multiple complex diseases; Null rs11082417; Serum metabolites; Null rs716152; Lung adenocarcinoma; lung adenocarcinoma rs9967367; Lung adenocarcinoma; lung adenocarcinoma rs10502849; Alzheimer's disease (late onset); Alzheimer's disease rs10502849; Sensory disturbances after bilateral sagittal split ramus osteotomy; corneal anesthesia and hypoesthesia\|sensory system disease rs7228266; Sensory disturbances after bilateral sagittal split ramus osteotomy; corneal anesthesia and hypoesthesia\|sensory system disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 21) (view all)	10 SRETLSSSRQRGGES dbPAF 1039 VPFLQGFSYPIPSGS dbPAF 1040 PFLQGFSYPIPSGSY dbPAF 1263 VDSCTKRYSGSGGDG dbPAF 1264 DSCTKRYSGSGGDGG dbPAF 1266 CTKRYSGSGGDGGST dbPAF 1272 GSGGDGGSTRSENLD dbPAF 1273 SGGDGGSTRSENLDV dbPAF 1298 WDSDVSGSKRRSYEG dbPAF 1379 IPPAPVLSLLAASAA dbPAF 1394 TSDAVGSSLKKRFKR dbPAF 1417 EVRKMCNYTKILSTK dbPAF 1418 VRKMCNYTKILSTKK dbPAF 1445 RLQRQSKTGNNFVKK dbPAF 172 TASDLAASDLKGFQP dbPAF 273 KKGSAGNTWSQLSNN dbPAF 439 MPEKALASGITMSSE dbPAF 611 GTSTSPVSPISREFP dbPAF 687 QILSCSSSVALKAKA dbPAF 720 INVSKRGTIYIGKKR dbPAF 8 MESRETLSSSRQRGG dbPAF
Methylation (count: 2)	1024 KKRGRPAKTNDTMTK PLMD 725 RGTIYIGKKRGRKPR PLMD

PTM

Modification Sites

Phosphorylation
(count: 21)
(view all)

10        SRETLSSSRQRGGES     dbPAF
1039      VPFLQGFSYPIPSGS     dbPAF
1040      PFLQGFSYPIPSGSY     dbPAF
1263      VDSCTKRYSGSGGDG     dbPAF
1264      DSCTKRYSGSGGDGG     dbPAF
1266      CTKRYSGSGGDGGST     dbPAF

Methylation
(count: 2)

1024 KKRGRPAKTNDTMTK PLMD
725 RGTIYIGKKRGRKPR PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

Q01105

Q9Y6X0

HPRD

PTMD Annotation Information

※ Protein Information

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction