EuRBPDB

Microtus_ochrogasterFamily: AXH Number of Genes: 3

Ensembl ID	Symbol	Entrez ID
ENSMOCG00000001527	Atxn1	101996890
ENSMOCG00000019227	Hbp1	101991968
ENSMOCG00000021726	Atxn1l	101997501

Introduction

Pfam

AXH is a protein-protein and RNA binding motif found in Ataxin-1 (ATX1). ATX1 is responsible for the autosomal-dominant neurodegenerative disorder Spinocerebellar ataxia type-1 (SCA1) in humans. The AXH module has also been identified in the apparently unrelated transcription factor HBP1 which is thought to be involved in the architectural regulation of chromatin and in specific gene expression [1].

InterPro

Spinocerebellar ataxia type 1 is late-onset neurodegenerative diseases caused by the expansion of a CAG triplet repeat in the SCA1 gene. This results in the lengthening of a polyglutamine tract in the gene product ataxin-1 producing a toxic gain of function that results in neuronal death.

Reference

de Chiara C, Giannini C, Adinolfi S, de Boer J, Guida S, Ramos A, Jodice C, Kioussis D, Pastore A; , FEBS Lett 2003;551:107-112.: The AXH module: an independently folded domain common to ataxin-1 and HBP1. PUBMED:12965213 EPMC:12965213.