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ATXN3L - ataxin 3 like Gene

Also Known as MJDL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92552

About ATXN3L

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,318,647-13,320,053 (from NCBI)

This gene has 1 transcript (splice variant), 149 orthologues and 1 paralogue.

Summary

This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]

ATXN3L Products (2)

mRNA	Protein	Name
NM_001135995.2	NP_001129467.1	ataxin-3-like protein isoform 1
NM_001387036.1	NP_001373965.1	ataxin-3-like protein isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	21118805	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein deubiquitination	IDA IDA: Inferred from direct assay	21118805	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATXN3L Protein Structure

Josephin

UIM

0
100
200
300
355 a.a.

Protein Preferred Names	Protein Names
ataxin-3-like protein	machado-Joseph disease protein 1-like

Related Diseases

Diseases	Alias
Machado-Joseph Disease	SCA3 MJD Spinocerebellar Ataxia 3 Azorean Disease Spinocerebellar Ataxia Type 3 Spinocerebellar Atrophy Azorean Neurologic Disease Spinopontine Atrophy Nigrospinodentatal Degeneration Spinocerebellar Atrophy Iii Spinocerebellar Atrophy Type 3 Azorean Ataxia Azorean Disease Of The Nervous System Machado Disease Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia Disease, Machado-Joseph Ataxia, Spinocerebellar
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01259	ATXN3L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown