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FLASH GENE

Symbol

ATXN1

contributors: mct /shn - updated : 13-12-2016

HGNC name	ataxin 1
HGNC id	10548

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	462.38 kb     9 Exon(s)

motif	repetitive sequence   triplet
text structure	6 to 39 repeats in normal people

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - D6S1676 - D6S1605 - ATXN1 - D6S274 - D6S1667 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001128164 8 - 10587 NP_001121636 86.7 815 - Banfi (1994) NM_000332 9 - 10636 NP_000323 86.7 815 - Banfi (1994)

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 Endocrine neuroendocrine pituitary       Nervous brain hindbrain cerebellum   highly Homo sapiens Adult Reproductive female system breast mammary gland       female system uterus         male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Adult Nervous Purkinje cell

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

embryo

Text	umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a nuclear localization signal (NLS)
	a CAG repeat in the 5' coding end
	an AXH domain mediating neuronal integrity through its interaction with Gfi-1/Senseless proteins, altered in SCA1
	implicated in RNA binding and self-association
	a short stretch of AAs, residues 771–778, at the C terminus, of particular interest since the interaction of certain proteins with this region is impacted by length of the polyglutamine and/or phosphorylation of Ser-776

mono polymer

homomer , oligo

HOMOLOGY

interspecies	ortholog to Atxn1, Mus musculus
	ortholog to Atxn1, Rattus norvegicus
	ortholog to atxn1b, Danio rerio

Homologene

FAMILY

ATXN1 family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm,nuclear bodies
text	in the nucleus of cerebellar Purkinje cells, almost exclusively nuclear in neurons (small nuclear bodies)

basic FUNCTION	has a role at specific stages of both cerebellar and vertebral column development (
	putatively involved in RNA metabolism
	mediating transcriptional repression when tethered to DNA
	antagonizes the neuronal survival function of myocyte enhancer factor-2
	CTBP2 and ATXN1 were recruited to the CDH1 promoter in mammalian cells
	occupies the promoter region of CDH1 and activates the promoter in a CTBP2-mediated transcriptional regulation manner
	component of the Notch signalling pathway (
	might participate in several Notch-controlled developmental and pathological processes
	reduces histone acetylation, a post-translational modification of histones associated with enhanced transcription, and represses histone acetyl transferase-mediated transcription
	function of ATXN1 in the modulation of PPP2R4 activity and the regulation of its holoenzyme composition

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

nucleic

signaling

a component

complexing with HDAC3 and functioning as a transcriptional repressor

INTERACTION

DNA	promoter region of Hey1 (

RNA	binding (inversely affected by the length of its polyglutamine tract)

small molecule

protein	binding to cerebellar leucine-rich nuclear protein (PHAP1), A1UP
	YWHAB, YWHAE, YWHAH, YWHAZ mediated by AKT1 to modulate the neurotoxicity of SCA1
	NCOR2
	repressor Capicua(CIC) in its native complex to cause SCA1 neuropathology
	ANP32A (modulates repression induced by ANP32A)
	UBE2E1, through its AXH domain
	glyceraldehyde-3-phosphate dehydrogenase, GAPDH (
	cerebellar leucine-rich acidic nuclear protein, LANP (
	A1Up (
	polyglutamine binding protein 1, PQBP1 (
	ubiquitin specific peptidase 7, USP7 (
	14-3-3 protein (
	p80 coilin (
	ataxin 1-like, ATXN1L (
	C terminus of Hsc-70 interacting protein, CHIP (
	Capicua, CIC (
	histone deacetylase-4, HDAC4 and myocyte enhancer factor 2, MEF2 (
	ubiquitin-conjugating enzyme E2E 1, UBE2E1 (
	CBF1 (
	PPP2CA is the pS776-ATXN1 phosphatase in the mammalian cerebellum
	binding of 14-3-3 to cytoplasmic ATXN1 impeded its transport to the nucleus, suggesting that 14-3-3 must disassociate from ATXN1 for transport of ATXN1 to the nucleus
	CIC is an ATXN1 interactor
	activates the expression of DRD2 and the mutation within ATXN1 compromises this function
	ATXN1 binds to the transcriptional repressor Capicua (CIC), and the interaction plays a critical role in SCA1 pathogenesis
	RNA-binding protein PUMILIO1 (PUM1) not only directly regulates ATXN1 but also plays an unexpectedly important role in neuronal function

cell & other

REGULATION

Other	phosphorylated at Ser-776, in the cytoplasm, creating a binding site for members of a family of small acidic proteins collectively designated as the 14-3-3 proteins
	sumoylation is dependent on nuclear localization and phosphorylation
	SUMO modification of ATXN1 promotes the aggregation of ATXN1 (Ryu 2010)
	probably phosphoryalted by cAMP-dependent protein kinase in the cerebellum (Jorgensen 2009)
	self-association seems to be necessary for formation of nuclear aggregates which are associated with pathogenesis
	in the nucleus, dephosphorylation of pS776-ATXN1 by PPP2CA regulates the interaction of ATXN1 with the splicing factors RBM17 and U2AF2

ASSOCIATED DISORDERS

corresponding disease(s)

SCA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function partial loss of function of ATXN1 contributes to SCA1 pathogenesis (Crespo-Barreto 2010)

Susceptibility

Variant & Polymorphism other	increased number of CAG repeats in a subset of oligozoospermia patients (Lai 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS