Seroatlas · Human Serome Atlas

TONSL

Tonsoku-like protein

Also known as: IKBR, NFKBIL2, TONSL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96HA7
Gene: TONSL
Ensembl: ENSG00000160949
Chromosome: 8
Canonical length: 1378 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1378 residues, UniProt reviewed canonical sequence.

>Q96HA7|TONSL
     1  MSLERELRQL SKAKAKAQRA GQRREEAALC HQLGELLAGH GRYAEALEQH WQELQLRERA
    61  DDPLGCAVAH RKIGERLAEM EDYPAALQHQ HQYLELAHSL RNHTELQRAW ATIGRTHLDI
   121  YDHCQSRDAL LQAQAAFEKS LAIVDEELEG TLAQGELNEM RTRLYLNLGL TFESLQQTAL
   181  CNDYFRKSIF LAEQNHLYED LFRARYNLGT IHWRAGQHSQ AMRCLEGARE CAHTMRKRFM
   241  ESECCVVIAQ VLQDLGDFLA AKRALKKAYR LGSQKPVQRA AICQNLQHVL AVVRLQQQLE
   301  EAEGRDPQGA MVICEQLGDL FSKAGDFPRA AEAYQKQLRF AELLDRPGAE RAIIHVSLAT
   361  TLGDMKDHHG AVRHYEEELR LRSGNVLEEA KTWLNIALSR EEAGDAYELL APCFQKALSC
   421  AQQAQRPQLQ RQVLQHLHTV QLRLQPQEAP ETETRLRELS VAEDEDEEEE AEEAAATAES
   481  EALEAGEVEL SEGEDDTDGL TPQLEEDEEL QGHLGRRKGS KWNRRNDMGE TLLHRACIEG
   541  QLRRVQDLVR QGHPLNPRDY CGWTPLHEAC NYGHLEIVRF LLDHGAAVDD PGGQGCEGIT
   601  PLHDALNCGH FEVAELLLER GASVTLRTRK GLSPLETLQQ WVKLYRRDLD LETRQKARAM
   661  EMLLQAAASG QDPHSSQAFH TPSSLLFDPE TSPPLSPCPE PPSNSTRLPE ASQAHVRVSP
   721  GQAAPAMARP RRSRHGPASS SSSSEGEDSA GPARPSQKRP RCSATAQRVA AWTPGPASNR
   781  EAATASTSRA AYQAAIRGVG SAQSRLGPGP PRGHSKALAP QAALIPEEEC LAGDWLELDM
   841  PLTRSRRPRP RGTGDNRRPS STSGSDSEES RPRARAKQVR LTCMQSCSAP VNAGPSSLAS
   901  EPPGSPSTPR VSEPSGDSSA AGQPLGPAPP PPIRVRVQVQ DHLFLIPVPH SSDTHSVAWL
   961  AEQAAQRYYQ TCGLLPRLTL RKEGALLAPQ DLIPDVLQSN DEVLAEVTSW DLPPLTDRYR
  1021  RACQSLGQGE HQQVLQAVEL QGLGLSFSAC SLALDQAQLT PLLRALKLHT ALRELRLAGN
  1081  RLGDKCVAEL VAALGTMPSL ALLDLSSNHL GPEGLRQLAM GLPGQATLQS LEELDLSMNP
  1141  LGDGCGQSLA SLLHACPLLS TLRLQACGFG PSFFLSHQTA LGSAFQDAEH LKTLSLSYNA
  1201  LGAPALARTL QSLPAGTLLH LELSSVAAGK GDSDLMEPVF RYLAKEGCAL AHLTLSANHL
  1261  GDKAVRDLCR CLSLCPSLIS LDLSANPEIS CASLEELLST LQKRPQGLSF LGLSGCAVQG
  1321  PLGLGLWDKI AAQLRELQLC SRRLCAEDRD ALRQLQPSRP GPGECTLDHG SKLFFRRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TONSL 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): 0.34
Highest tissue expression: 8 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 8 nTPM
small intestine: 4.2 nTPM
spleen: 3.8 nTPM
esophagus: 3.7 nTPM
testis: 3.6 nTPM
cerebellum: 3.3 nTPM

Single-cell type

tuft cells: 12 nCPM
hepatic stellate cells: 6.5 nCPM
erythrocyte progenitors: 4.7 nCPM
megakaryocyte progenitors: 4.2 nCPM
enterocytes: 4 nCPM
papillary tip epithelial cells: 3.3 nCPM

Immune cell

NK-cell: 0.5 nTPM
memory B-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM

Brain region

cerebral cortex: 4.1 nTPM
pons: 4.1 nTPM
medulla oblongata: 3.6 nTPM
thalamus: 3.1 nTPM
midbrain: 2.8 nTPM
amygdala: 2.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TONSL.

Disease | AllUniProt

Conditions TONSL is implicated in, by any mechanism.

Spondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP) MIM:271510

Disease | GeneticClinVar

85 pathogenic / likely-pathogenic of 1,393 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Sponastrime dysplasia
TONSL-related disorder
Skeletal dysplaisia with extra-skeletal manifestations
Susceptibility to severe COVID-19
Inborn genetic diseases

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): 0.69
gnomAD pLI: 0
gnomAD missense Z: -0.09
DepMap mean gene effect: -1.73
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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