Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	92552
Gene name	Ataxin 3 like
Gene symbol	ATXN3L
Synonyms (NCBI Gene)	MJDL
Chromosome	X
Chromosome location	Xp22.2
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 associa

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miRTarBase ID	miRNA	Experiments	Reference
MIRT644946	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT644945	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT644944	hsa-miR-6072	HITS-CLIP	23824327
MIRT644943	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644942	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT644941	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT644940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT644939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT644938	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT644937	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT644946	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT644945	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT644944	hsa-miR-6072	HITS-CLIP	23824327
MIRT644943	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644942	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT644941	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT644940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT644939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT644938	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT644937	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT644946	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT644945	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT644944	hsa-miR-6072	HITS-CLIP	23824327
MIRT644943	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644942	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT644941	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT644940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT644939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT644938	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT644937	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT644946	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT644945	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT644944	hsa-miR-6072	HITS-CLIP	23824327
MIRT644943	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644942	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT644941	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT644940	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT644939	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT644938	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT644937	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT811309	hsa-miR-101	CLIP-seq
MIRT811310	hsa-miR-139-5p	CLIP-seq
MIRT811311	hsa-miR-144	CLIP-seq
MIRT811312	hsa-miR-34b	CLIP-seq
MIRT811313	hsa-miR-377	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	21118805
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016579	Process	Protein deubiquitination	IDA	21118805
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:1904262	Process	Negative regulation of TORC1 signaling	IBA
GO:1904294	Process	Positive regulation of ERAD pathway	IBA

MIM	HGNC	e!Ensembl
300920	24173	ENSG00000123594

Q9H3M9

Protein name

Ataxin-3-like protein (EC 3.4.19.12) (Machado-Joseph disease protein 1-like)

Protein function

Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro) (PubMed:21118805). Acts as a deubiquitinating enzyme for the transcription factor KLF5, playing a role in the regulation of KLF5 stabi

PDB

3O65

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02099	Josephin	9 → 166	Josephin	Family
PF02809	UIM	224 → 239	Ubiquitin interaction motif	Motif
PF02809	UIM	242 → 258	Ubiquitin interaction motif	Motif
PF16619	SUIM_assoc	261 → 324		Disordered

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11450850}.

Sequence

MDFIFHEKQEGFLCAQHCLNNLLQGEYFSPVELASIAHQLDEEERMRMAEGGVTSEEYLA
FLQQPSENMDDTGFFSIQVISNALKFWGLEIIHFNNPEYQKLGIDPINERSFICNYKQHW
FTIRKFGKHWFNLNSLLAGPELISDTCLANFLARLQQQAYSVFVVKGDLPDCEADQLLQI
ISVEEMDTPKLNGKKLVKQKEHRVYKTVLEKVSEESDESGTSDQDEEDFQRALELSRQET
NREDEHLRSTIELSMQGSSGNTSQDLPKTSCVTPASEQPKKIKEDYFEKHQQEQKQQQQQ
SDLPGHSSYLHERPTTSSRAIESDLSDDISEGTVQAAVDTILEIMRKNLKIKGEK

Sequence length

355

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Protein processing in endoplasmic reticulum	Josephin domain DUBs
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Intellectual disability	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	26079537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26079537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26079537		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATXN3L (ataxin 3 like)

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