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FLASH GENE

Symbol

SYMPK

contributors: mct/npt - updated : 19-01-2016

HGNC name	symplekin
HGNC id	22935

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19q13.32      Physical location : 46.318.700 - 46.366.548
Synonym name	Huntingtin interacting protein I
Synonym symbol(s)	5C2C, SYPLK, SYM, HYPI, SPK, FLJ27092

DNA

TYPE	functioning gene
STRUCTURE	47.85 kb     27 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_004819 27 - 4188 NP_004810 - 1274 - -

EXPRESSION

Type

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 intestine small intestine duodenum       liver           stomach         Endocrine pancreas         Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol   digestive Lymphoid/Immune lymphocyte

cell lineage
cell lines	lymphoma cell lines, erythroleukemia cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to C.elegans F25g6.2

Homologene

FAMILY

CATEGORY

adhesion , RNA associated

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	cytoplasmic face of adhesion plaques (major)
	localized at tight junctions (TJs) in epithelial cells (Buchert 2010)
	during mitosis, distributed diffusely throughout the nucleoplasm
	co-localized with TJP1 at tight junctions

basic FUNCTION	with multiple other polyadenylation factors participate in 3prime-end maturation of histone mRNAs (Kolev 2005)
	can associate with tight junctions, and functions in the regulation of polyadenylation and thereby promotes gene expression (Kavanagh 2006)
	functionally interacts with CSDA, indicating that it can also promote transcriptional repression (Kavanagh 2006)
	involved in RNA polyadenylation and transcriptional regulation that localizes at tight junctions in epithelial cells (Buchert 2009)
	multifunctional protein implicated in transcription and translation as well as signaling at tight junctions
	involved in the nuclear pre-mRNA cleavage and polyadenylation machinery (Buchert 2010)
	supports faithful mitosis by contributing to the formation of a bipolar spindle apparatus
	required to support bipolar spindle formation in multiple non-small-cell lung cancer-derived tumor
	required for high-fidelity mitosis, and modulates microtubule polymerization
	is a multifunctional protein localized to both the tight junction and the nucleus with known roles in mRNA polyadenylation, proliferation, differentiation and tumorigenesis
	SYMPK expression regulates the assembly of tight junctions, thus helps to maintain the integrity of the epithelial monolayer and cellular polarity
	role of Symplekin in transcription repression involving a regulatory network between KAT6A, KMT2A and Symplekin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	constituent of tight junction plaque protein
	core component of the polyadenylation machinery, which has recently been implicated in regulating mitotic progression through phase-specific changes in poly(A) tail length

INTERACTION

DNA

RNA

small molecule

protein	Huntingtin
	association between symplekin and the Y-box transcription factor CSDA activates proliferation in intestinal and kidney cells (Buchert 2009)
	cooperates with CSDA to negatively regulate intestinal goblet cell differentiation, acting by repression of AML1 and KLF4 (Buchert 2009)
	interaction of CSTF2 with SYMPK is limiting for histone RNA 3 prime processing but relatively unimportant for cleavage/polyadenylation
	interacts and co-localizes with both KAT6A and KMT2A in immature hematopoietic cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   may be an early step in the transformation of hepatocytes, whereas alteration of the expression of adherens junctions and desmosomes may indicate more serious changes (Cao 2007) tumoral     --over   nuclear overexpression promotes tumorigenesis in the colon and the regulation of CLDN2 expression is instrumental in this effect (Buchert 2010) tumoral     --over   in lung and colon cancer cells

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     therapeutic regimens that combine antimitotics with polyadenylation inhibitors may have an enhanced effectiveness for cytotoxicity in tumor cells while decreasing adverse events in normal tissues

ANIMAL & CELL MODELS