ATXN1L
Ataxin-1-like
Also known as: ATX1L_HUMAN, BOAT1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P0C7T5
- Gene
- ATXN1L
- Ensembl
- ENSG00000224470
- Chromosome
- 16
- Canonical length
- 689 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Predicted to enable RNA binding activity and chromatin binding activity. Predicted to be involved in several processes, including learning or memory; negative regulation of transcription by RNA polymerase II; and social behavior. Predicted to act upstream of or within extracellular matrix organization; lung alveolus development; and positive regulation of hematopoietic stem cell proliferation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
689 residues, UniProt reviewed canonical sequence.
>P0C7T5|ATXN1L
1 MKPVHERSQE CLPPKKRDLP VTSEDMGRTT SCSTNHTPSS DASEWSRGVV VAGQSQAGAR
61 VSLGGDGAEA ITGLTVDQYG MLYKVAVPPA TFSPTGLPSV VNMSPLPPTF NVASSLIQHP
121 GIHYPPLHYA QLPSTSLQFI GSPYSLPYAV PPNFLPSPLL SPSANLATSH LPHFVPYASL
181 LAEGATPPPQ APSPAHSFNK APSATSPSGQ LPHHSSTQPL DLAPGRMPIY YQMSRLPAGY
241 TLHETPPAGA SPVLTPQESQ SALEAAAANG GQRPRERNLV RRESEALDSP NSKGEGQGLV
301 PVVECVVDGQ LFSGSQTPRV EVAAPAHRGT PDTDLEVQRV VGALASQDYR VVAAQRKEEP
361 SPLNLSHHTP DHQGEGRGSA RNPAELAEKS QARGFYPQSH QEPVKHRPLP KAMVVANGNL
421 VPTGTDSGLL PVGSEILVAS SLDVQARATF PDKEPTPPPI TSSHLPSHFM KGAIIQLATG
481 ELKRVEDLQT QDFVRSAEVS GGLKIDSSTV VDIQESQWPG FVMLHFVVGE QQSKVSIEVP
541 PEHPFFVYGQ GWSSCSPGRT TQLFSLPCHR LQVGDVCISI SLQSLNSNSV SQASCAPPSQ
601 LGPPRERPER TVLGSRELCD SEGKSQPAGE GSRVVEPSQP ESGAQACWPA PSFQRYSMQG
661 EEARAALLRP SFIPQEVKLS IEGRSNAGKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ATXN1L 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)
- 0.64
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 37 nTPM
- kidney: 18 nTPM
- parathyroid gland: 16 nTPM
- adipose tissue: 13 nTPM
- tongue: 13 nTPM
- blood vessel: 13 nTPM
Single-cell type
- epicardial cells: 109 nCPM
- sertoli cells: 97 nCPM
- cardiomyocytes: 95 nCPM
- cone photoreceptor cells: 93 nCPM
- somatotrophs: 69 nCPM
- adipocytes: 62 nCPM
Immune cell
- T-reg: 0.7 nTPM
- basophil: 0.6 nTPM
- naive CD4 T-cell: 0.5 nTPM
- naive CD8 T-cell: 0.5 nTPM
- gdT-cell: 0.4 nTPM
- intermediate monocyte: 0.4 nTPM
Brain region
- thalamus: 28 nTPM
- basal ganglia: 27 nTPM
- midbrain: 26 nTPM
- white matter: 26 nTPM
- amygdala: 25 nTPM
- medulla oblongata: 24 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 LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 1.08
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- extracellular matrix organization
- learning
- lung alveolus development
- memory
- negative regulation of transcription by RNA polymerase II
- positive regulation of hematopoietic stem cell proliferation
- social behavior
- transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ATXN1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ATXN1L as an antibody target. Whether an autoantibody or antibody against ATXN1L could matter depends on whether native ATXN1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ATXN1L 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 ATXN1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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