Seroatlas · Human Serome Atlas

ATXN3L

Ataxin-3-like protein

Also known as: ATX3L_HUMAN, MJDL

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H3M9
Gene: ATXN3L
Ensembl: ENSG00000123594
Chromosome: X
Canonical length: 355 aa
Protein class: Enzymes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

355 residues, UniProt reviewed canonical sequence.

>Q9H3M9|ATXN3L
     1  MDFIFHEKQE GFLCAQHCLN NLLQGEYFSP VELASIAHQL DEEERMRMAE GGVTSEEYLA
    61  FLQQPSENMD DTGFFSIQVI SNALKFWGLE IIHFNNPEYQ KLGIDPINER SFICNYKQHW
   121  FTIRKFGKHW FNLNSLLAGP ELISDTCLAN FLARLQQQAY SVFVVKGDLP DCEADQLLQI
   181  ISVEEMDTPK LNGKKLVKQK EHRVYKTVLE KVSEESDESG TSDQDEEDFQ RALELSRQET
   241  NREDEHLRST IELSMQGSSG NTSQDLPKTS CVTPASEQPK KIKEDYFEKH QQEQKQQQQQ
   301  SDLPGHSSYL HERPTTSSRA IESDLSDDIS EGTVQAAVDT ILEIMRKNLK IKGEK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATXN3L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 4.4 nTPM

Expression across tissuesHPA

Tissue

testis: 4.4 nTPM
placenta: 0.1 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM
amygdala: 0 nTPM
appendix: 0 nTPM

Single-cell type

late spermatids: 364 nCPM
early spermatids: 79 nCPM
late primary spermatocytes: 16 nCPM
peritubular myoid cells: 0.7 nCPM
leydig cells: 0.6 nCPM
early primary spermatocytes: 0.4 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hippocampal formation: 0.5 nTPM
cerebral cortex: 0.4 nTPM
white matter: 0.3 nTPM
basal ganglia: 0.2 nTPM
amygdala: 0.1 nTPM
cerebellum: 0 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD missense Z: -0.02
DepMap mean gene effect: 0.23
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

cysteine-type deubiquitinase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATXN3L as an antibody target. Whether an autoantibody or antibody against ATXN3L could matter depends on whether native ATXN3L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATXN3L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATXN3L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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