Home

SETBP1 (human)

Overview SETBP1 Defects in SETBP1 are the cause of Schinzel-Giedion midface retraction syndrome (SGMFS). It is 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. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Protein type: Unknown function Cellular Component: nucleus Molecular Function: DNA binding Reference #:  Q9Y6X0 (UniProtKB) Alt. Names/Synonyms: DKFZp666J1210; KIAA0437; SEB; SET binding protein 1; SET-binding protein; SETBP; SETBP1 Gene Symbols: SETBP1 Molecular weight: 175,008 Da Basal Isoelectric point: 9.76  Predict pI for various phosphorylation states

Select Structure to View Below SETBP1

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE  |  InnateDB  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		S8-p	MESRETLsSsRQRGG
0	1		S10-p	SRETLsSsRQRGGES
0	1		K140-a	IKQSGDQkVSRAGkN
0	1		K146-a	QkVSRAGkNSKATKE
0	1		S172-p	TASDLAAsDLKGFQP
0	1		T273-p	KKGSAGNtWSQLSNN
0	1		N357	PDLDWVKNAQKAFDN
0	2		S439-p	MPEKALAsGITMSSE
0	1		T550	LREAVMATSDKLMLE
0	1		S687-p	QILSCSSsVALKAKA
0	1		T720-p	INVSKRGtIYIGkKR
0	1		K725-m1	RGtIYIGkKRGRKPR
0	1		K1024-m2	KKRGRPAkTNDTMTK
0	1		S1039-p	VPFLQGFsyPIPSGS
0	1		Y1040-p	PFLQGFsyPIPSGSY
0	1		S1379-p	IPPAPVLsLLAASAA
0	1		S1394-p	TSDAVGSsLKKRFKR
0	1		T1445-p	RLQRQSKtGNNFVkk
0	1		K1451-a	KtGNNFVkkRRGRPR
0	1		K1452-a	tGNNFVkkRRGRPRK
0	3		K1484-a	KCIDLPSkRGQKPSL

	mouse
S8	MEPREMLSSCRQRGS
C10	PREMLSSCRQRGSES
K133	IKQSGDQKVSRTGKN
K139	QKVSRTGKNSKATKE
S165	TAGDPTASDLKAFQT
A266	KKGSTGGAWSQLSSS
S350-p	SDLDWVKsAQKAFET
S432	VPEKALASGISMSSE
T541-p	LREAVLAtAEKLMVE
S678	QILSCSSSVALKAKA
T711	INVSKRGTIYIGKKR
K716	RGTIYIGKKRGRKPR
K1015	KKRGRPAKTNDTMTK
S1030	VPFLQGFSYPIPSGS
Y1031	PFLQGFSYPIPSGSY
S1368	IPSAPVLSLLAASAA
S1383	TSDAASSSLKKRFKR
T1434	RLQRQSKTGNNFVKK
K1440	KTGNNFVKKRRGRPR
K1441	TGNNFVKKRRGRPRK
K1473-a	KCIDLPSkRGQKPSL

Home  |  Curator Login With enhanced literature mining using Linguamatics I2E Produced by 3rd Millennium  |  Design by Digizyme ©2003-2013 Cell Signaling Technology, Inc.