ATXN7L3B
Ataxin-7-like protein 3B
Also known as: A7L3B_HUMAN, lnc-SCA7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96GX2
- Gene
- ATXN7L3B
- Ensembl
- ENSG00000253719
- Chromosome
- 12
- Canonical length
- 97 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
Involved in regulation of gene expression. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
97 residues, UniProt reviewed canonical sequence.
>Q96GX2|ATXN7L3B
1 MEEISLANLD TNKLEAIAQE IYVDLIEDSC LGFCFEVHRA VKCGYFYLEF AETGSVKDFG
61 IQPVEDKGAC RLPLCSLPGE PGNGPDQQLQ RSPPEFQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ATXN7L3B 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)
- 0.6
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- retina: 43 nTPM
- stomach: 36 nTPM
- cerebral cortex: 35 nTPM
- cerebellum: 34 nTPM
- fallopian tube: 31 nTPM
- thymus: 28 nTPM
Single-cell type
- fallopian tube ciliated cells: 163 nCPM
- respiratory ciliated cells: 137 nCPM
- hematopoietic stem cells: 107 nCPM
- megakaryocyte-erythroid progenitors: 94 nCPM
- müller glia: 88 nCPM
- endometrial ciliated cells: 87 nCPM
Immune cell
- basophil: 17 nTPM
- naive CD4 T-cell: 13 nTPM
- eosinophil: 13 nTPM
- non-classical monocyte: 12 nTPM
- classical monocyte: 9.5 nTPM
- total PBMC: 9.1 nTPM
Brain region
- hypothalamus: 56 nTPM
- pons: 50 nTPM
- cerebral cortex: 48 nTPM
- midbrain: 47 nTPM
- basal ganglia: 47 nTPM
- white matter: 46 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)
- 1.74
- gnomAD pLI
- 0.15
- gnomAD missense Z
- 0.6
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ataxin-7-like protein 3B
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ATXN7L3B 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 ATXN7L3B as an antibody target. Whether an autoantibody or antibody against ATXN7L3B could matter depends on whether native ATXN7L3B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ATXN7L3B 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 ATXN7L3B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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