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FLASH GENE

Symbol

SETBP1

contributors: mct - updated : 06-09-2014

HGNC name	SET binding protein 1
HGNC id	15573

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRD29 mental retardation, autosomal dominant 29 SGDS Schinzel-Giedion syndrome
Location	18q12.3      Physical location : 42.260.137 - 42.648.473
Synonym name	moraxella nascent polypeptide-associated complex alpha polypeptide homolog
Synonym symbol(s)	KIAA0437, NACAL, NACAR, SEB, DKFZp666J1210

DNA

TYPE	functioning gene
STRUCTURE	388.34 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015559 6 - 9899 NP_056374 169 1596 - 2001 11231286 isoform a NM_001130110 4 - 1804 NP_001123582 - 242 - 2001 11231286 isoform b

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Hearing/Equilibrium ear       highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	SKI oncoprotein homologous region
	six PEST sequences
	three AT hook DNA-binding domains

conjugated

PhosphoP

HOMOLOGY

interspecies

homolog to moraxella nascent polypeptide-associated complex alpha polypeptide

Homologene

FAMILY

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in the mechanism of SET related leukemogenesis and tumorigenesis
	SETBP1 activation represents a novel mechanism conferring self-renewal capability to myeloid progenitors in myeloid leukemia development
	pathogenetic roles for SETBP1 and ASXL1 mutations in disease evolution into blast phase disease and chronic myelomonocytic leukemia (CMML), respectively

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interacting with SET
	HOXA9, HOXA10 are direct transcriptional targets of SETBP1
	MYB expression is critical for myeloid leukemia development induced by SETBP1 activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SGDS , MRD29

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with NUP98 in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12) tumoral somatic mutation       cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML) tumoral somatic mutation       associated with CSF3R and/or ASXL1 mutation in chronic neutrophilic leukemia (CNL)

Susceptibility

Variant & Polymorphism

Candidate gene	mutation of SETBP1 cause Schinzel-Giedion syndrome (Hoischen 2010)
Marker
Therapy target

ANIMAL & CELL MODELS