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FLASH GENE

Symbol

ATN1

contributors: mct - updated : 15-05-2019

HGNC name	atrophin 1
HGNC id	3033

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHEDDA congenital hypotonia, epilepsy, developmental delay, digit abnormalities DRPLA dentatorubral-pallidoluysian atrophy
Location	12p13.31      Physical location : 7.033.625 - 7.051.482
Synonym name	dentatorubral-pallidoluysian atrophy (atrophin-1)
Synonym symbol(s)	DRPLA1, B37, D12S755E, NOD, HRS

DNA

TYPE	functioning gene
STRUCTURE	17.86 kb     10 Exon(s)

motif	repetitive sequence   triplet
text structure	an amplified CAG repeat

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001007026 10 - 4367 NP_001007027 125 1190 - 2005 16091834 NM_001940 10 - 4360 NP_001931 125 1190 - 2005 16091834 differs in the 5' UTR

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 Cardiovascular heart         Homo sapiens Nervous brain limbic system hippocampus   highly Homo sapiens Adult   brain basal nuclei corpus callosum     Homo sapiens Adult   brain diencephalon hypothalamus     Homo sapiens Adult   brain hindbrain cerebellum   highly Homo sapiens Adult   brain       predominantly Homo sapiens Fetal Reproductive male system testis     highly   male system prostate     highly Respiratory lung         Homo sapiens Urinary kidney         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum skeletal     Homo sapiens Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five PY motifs
	one at the end of the proline repeat
	two between the proline and glutamine repeats
	two between glutamine repeats
	the region of alternating acidic and basic residues with several truncated forms
	a repeat of a polyglutamine stretch encoded by CAG repeat
	an Atro-box
	C-terminal fragment playing a principal role in the pathological accumulation of ATN1 in dentatorubral-pallidoluysian atrophy , C-terminal part of ATN1, conserved 16-amino-acid "HX repeat" motif (residues 1049–1065)

HOMOLOGY

interspecies	homolog to murine Drpla
	homolog to Drosophila atrophin

Homologene

FAMILY

Atrophin family proteins

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nuclear envelope,matrix attachement regions

basic FUNCTION	ATN1 and the short form of RERE, can act as potent and evolutionarily conserved transcriptional activators
	FAT1 and ATRS (ATN1 and RERE), act in concert after vascular injury but show further that distinct Atr isoforms have disparate effects on vascular smooth muscle cells directional migration
	expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization
	critical role of the ATN1 HX repeat motif in the control of human embryonic development

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	central nervous system development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	SH3 domain of BAIAP2 binding, RERE
	FAT1 interacted with both ATN1 and ATN2 (these interactions required FAT1 AAs 4300-4400 and an intact Atro-box in the ATNs)
	interactions between FAT1 and Atrophins (ATN1, RERE) might contribute to FAT1 effects on vascular smooth muscle cells
	involvement of KDM1A in ATN1 expression and neuronal progenitor cell (NPC) maintenance

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DRPLA , CHEDDA

Susceptibility

Variant & Polymorphism repeat	disorder related to the expansion of a trinucleotide CAG repeats (7 to 23 in normal population and 49 to 75 patients)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice