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FLASH GENE

Symbol

ANKRD11

contributors: mct - updated : 16-01-2014

HGNC name	ankyrin repeat domain 11
HGNC id	21316

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	222.93 kb     13 Exon(s)

regulatory sequence	Binding site
text structure	RNA binding site

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_013275 13 - 9326 NP_037407 - 2663 - 2008 18840648 NM_001256183 13 - 9307 NP_001243112 - 2663 - 2008 18840648 NM_001256182 14 - 9381 NP_001243111 - 2663 - 2008 18840648

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal signaling motif (NLS1 and NLS2) that is essential for both nuclear/subnuclear localization and transcription corepressor function (Zhang 2007)
	five ankyrin repeats
	a leucine-rich nuclear export signal (NES) at residues 2415-2424 (both the NLSs and NES sequences are capable of mediating nuclear import and export of heterologous protein, respectively)

HOMOLOGY

Homologene

FAMILY

ankyrin repeats containing cofactors (ANCOs)family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	subnuclear localization is regulated by both nuclear import and export signals, and that proper subcellular localization is essential for its corepressor function (Zhang 2007)

basic FUNCTION	nuclear receptor corepressor that regulates receptor-mediated transcription through interactions with p160 coactivators and histone deacetylases (Zhang 2007)
	may recruit histone deacetylases to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (Zhang 2004)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

protein	TP53-interacting protein that enhanced the transcriptional activity of TP53 (Neilsen 2008)
	binds to the conserved Per-Arnt-Sim (PAS) region of the p160 coactivators (Zhang 2004)
	colocalizes and interacts with histone deacetylases (Zhang 2004)
	also interact with the co-activator TADA3L (repress TADA3L-mediated transcriptional co-activation on nuclear receptors, whereas ANKRD11 stimulated TP53-mediated transactivation) (Li 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

KBG , DEL16Q24

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia (Willemsen 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS