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ATXN3L ataxin 3 like [ Homo sapiens (human) ]

Gene ID: 92552, updated on 17-Sep-2022

Summary

Official Symbol
ATXN3Lprovided by HGNC
Official Full Name
ataxin 3 likeprovided by HGNC
Primary source
HGNC:HGNC:24173
See related
Ensembl:ENSG00000123594 MIM:300920; AllianceGenome:HGNC:24173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MJDL
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]
Orthologs
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Genomic context

See ATXN3L in Genome Data Viewer
Location:
Xp22.2
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13318647..13320053, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (12900086..12901492, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13336766..13338172, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373134 Neighboring gene long intergenic non-protein coding RNA 2154 Neighboring gene unknown transcript Neighboring gene long intergenic non-protein coding RNA 1203 Neighboring gene glutathione peroxidase pseudogene 1

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ59638, MGC168806, MGC168807

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cysteine-type deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cysteine-type deubiquitinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein deubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ataxin-3-like protein
Names
machado-Joseph disease protein 1-like
putative ataxin-3-like protein
NP_001129467.1
NP_001373965.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021356.1 RefSeqGene

    Range
    5347..6753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135995.2NP_001129467.1  ataxin-3-like protein isoform 1

    See identical proteins and their annotated locations for NP_001129467.1

    Status: REVIEWED

    Source sequence(s)
    AC004674
    Consensus CDS
    CCDS48080.1
    UniProtKB/Swiss-Prot
    B2RNY8, Q9H3M9
    UniProtKB/TrEMBL
    B4DYC7
    Related
    ENSP00000369996.2, ENST00000380622.5
    Conserved Domains (2) summary
    pfam02099
    Location:9163
    Josephin; Josephin
    pfam16619
    Location:262323
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
  2. NM_001387036.1NP_001373965.1  ataxin-3-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004674
    Conserved Domains (2) summary
    pfam02099
    Location:978
    Josephin
    pfam16619
    Location:173236
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    13318647..13320053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    12900086..12901492 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)