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FLASH GENE

Symbol

THAP11

contributors: mct/pgu - updated : 09-12-2014

HGNC name	THAP domain containing 11
HGNC id	23194

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16q22.1      Physical location : 67.876.212 - 67.878.097
Synonym name	RONIN
Synonym symbol(s)	HRIHFB2206, CTG-B45d, CTG-B43a, RONIN

DNA

TYPE	functioning gene
STRUCTURE	1.89 kb     1 Exon(s)

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_020457 1 - 1903 NP_065190 - 314 - 2008 18585351

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart       highly Endocrine parathyroid       highly Nervous brain         Reproductive female system uterus         female system ovary     highly Respiratory lung       highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a THAP domain associated with sequence-specific DNA binding and epigenetic silencing of gene expression
	two poly-Ala domains
	a poly-Gln domain

HOMOLOGY

interspecies	ortholog to murine Thap11
	ortholog to rattus thap11_predicted

Homologene

FAMILY

THAP11 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	essential factor underlying embryogenesis and embryonic stem cell pluripotency
	may be an endogenous physiologic regulator of cell proliferation
	functions as a cell growth suppressor by negatively regulating the expression of MYC
	with others THAP proteins could play a major role in targeting genes to promote transcription regulation through interactions with protein complexes associated to chromatin remodelling
	essential role for the self-renewal of embryonic stem cells
	novel role of THAP11 in CD44 alternative splicing and hepatoma invasion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	complex THAP11/HCFC1 controls a genetic program that contributes to the unimpeded growth of embryonic stem cells
	THAP11/ZNF143/HCFC1 complex is a critical component of the transcriptional regulatory network governing cell proliferation

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	binds directly to HCFC1, a key transcriptional regulator (association with HCFC1 suggests an epigenetic mechanism of gene repression in pluripotent cells)
	interacts with host cell factor-1 HCFC1, a key transcriptional regulator associated to chromatin remodelling
	is a novel physiological binding partner of PCBP1
	HCFC1 serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	for neuropsychiatric disease, due to triplet repeats
Marker
Therapy target

ANIMAL & CELL MODELS