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FLASH GENE

Symbol

THAP1

contributors: mct - updated : 16-01-2014

HGNC name	THAP domain containing, apoptosis associated protein 1
HGNC id	20856

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYT6 dystonia 6, idiopathic torsion
Location	8p11.21      Physical location : 42.691.817 - 42.698.474
Synonym name	nuclear proapoptotic factor
	Thanathos associated protein 1
Synonym symbol(s)	FLJ10477, MGC33014, 4833431A01Rik

DNA

TYPE	functioning gene
STRUCTURE	6.66 kb     3 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_018105 3 - 2189 NP_060575 24 213 - 2003 12575992 isoform 1 NM_199003 2 - 1993 NP_945354 - 53 - 2006 16713569 a frameshift resulting in a distinct and shorter C-terminus, compared to isoform 1 isoform 2

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 salivary gland       highly Lymphoid/Immune lymph node       highly Nervous brain hindbrain cerebellum     Rattus norvegicus Fetal   brain         Rattus norvegicus   ganglia sensory ganglia dorsal root     Rattus norvegicus   spinal cord         Rattus norvegicus

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell not specific fibroblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a THAP domain, with demonstrated sequence-specific DNA binding activity, exhibiting similarities to the site-specific DNA-binding domain of Drosophila P element transposase, including a putative metal-coordinating C2CH signature (CX(2-4)CX(35-53)CX(2)H)
	C-terminal coiled-coil domain may enhance the affinity of the full-length protein for DNA by allowing dimerization or multimerization,
	which may facilitate future analyses of DYT6 mutations in this region

HOMOLOGY

interspecies	homolog to murine Thap1 (93.8pc)
	homolog to rattus Thap1 (93.3pc)

Homologene

FAMILY

THAP family

CATEGORY

tumor suppressor , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,PML
text	colocalizes with PAWR in promyelocytic leukemia nuclear bodies

basic FUNCTION	proapototic factor that links PAWR to promyelocytic leukemia (PML) nuclear bodies
	potentiates both serum withdrawal- and TNF alpha-induced apoptosis
	functioning as zinc-dependent sequence-specific DNA-binding factors with roles in proliferation, apoptosis, cell cycle, chromosome segregation, chromatin modification, and transcriptional regulation
	having an important function in cell proliferation and cell cycle control
	endogenous physiological regulator of endothelial cell proliferation and G1/S cell cycle progression
	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
	transcription factor that represses the expression of DYT1
	plays a critical role in G(1)-S cell cycle control
	may function as part of a cell surface-nucleus signaling cascade involved in terminal neural differentiation

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (binds DNA as a monomer with a relatively low affinity as previously observed for isolated domains such as the lac repressor)

RNA

small molecule

protein	colocalized with PAWR in PML nuclear bodies
	associating with HCFC1 and OGT to the RRM1 promoter during endothelial cell proliferation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYT6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS