Seroatlas · Human Serome Atlas

TOE1

Target of EGR1 protein 1

Also known as: hCaf1z, TOE-1, TOE1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96GM8
Gene: TOE1
Ensembl: ENSG00000132773
Chromosome: 1
Canonical length: 510 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

510 residues, UniProt reviewed canonical sequence.

>Q96GM8|TOE1
     1  MAADSDDGAV SAPAASDGGV SKSTTSGEEL VVQVPVVDVQ SNNFKEMWPS LLLAIKTANF
    61  VAVDTELSGL GDRKSLLNQC IEERYKAVCH AARTRSILSL GLACFKRQPD KGEHSYLAQV
   121  FNLTLLCMEE YVIEPKSVQF LIQHGFNFNQ QYAQGIPYHK GNDKGDESQS QSVRTLFLEL
   181  IRARRPLVLH NGLIDLVFLY QNFYAHLPES LGTFTADLCE MFPAGIYDTK YAAEFHARFV
   241  ASYLEYAFRK CERENGKQRA AGSPHLTLEF CNYPSSMRDH IDYRCCLPPA THRPHPTSIC
   301  DNFSAYGWCP LGPQCPQSHD IDLIIDTDEA AAEDKRRRRR RREKRKRALL NLPGTQTSGE
   361  AKDGPPKKQV CGDSIKPEET EQEVAADETR NLPHSKQGNK NDLEMGIKAA RPEIADRATS
   421  EVPGSQASPN PVPGDGLHRA GFDAFMTGYV MAYVEVSQGP QPCSSGPWLP ECHNKVYLSG
   481  KAVPLTVAKS QFSRSSKAHN QKMKLTWGSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TOE1 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): 0.36
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

testis: 13 nTPM
thymus: 8.4 nTPM
epididymis: 7.9 nTPM
spleen: 7.8 nTPM
tonsil: 7.8 nTPM
rectum: 7.7 nTPM

Single-cell type

late primary spermatocytes: 78 nCPM
megakaryocytes: 50 nCPM
cytotrophoblasts: 46 nCPM
migrating cytotrophoblasts: 31 nCPM
megakaryocyte progenitors: 31 nCPM
syncytiotrophoblasts: 24 nCPM

Immune cell

basophil: 20 nTPM
T-reg: 8.6 nTPM
MAIT T-cell: 8.5 nTPM
naive B-cell: 8.4 nTPM
gdT-cell: 7.3 nTPM
memory CD8 T-cell: 7.3 nTPM

Brain region

hypothalamus: 4.7 nTPM
pons: 4.2 nTPM
medulla oblongata: 4.1 nTPM
white matter: 4.1 nTPM
spinal cord: 4 nTPM
midbrain: 3.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TOE1.

Disease | AllUniProt

Conditions TOE1 is implicated in, by any mechanism.

Pontocerebellar hypoplasia 7 (PCH7) MIM:614969

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 239 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pontocerebellar hypoplasia type 7
TOE1-related disorder
Inborn genetic diseases
See cases

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): 1.46
gnomAD pLI: 0
gnomAD missense Z: 1.07
DepMap mean gene effect: -0.53
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

snRNA 3'-end processing

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TOE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

U1
U2
U4
U5
SNRPB
SNRPF

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TOE1 as an antibody target. Whether an autoantibody or antibody against TOE1 could matter depends on whether native TOE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TOE1 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 TOE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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