Seroatlas · Human Serome Atlas

TARDBP

TAR DNA-binding protein 43

Also known as: ALS10, TADBP_HUMAN, TDP-43

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

Protein identityUniProt · HPA

UniProt accession
Q13148
Gene
TARDBP
Ensembl
ENSG00000120948
Chromosome
1
Canonical length
414 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm
Quaternary structure
Homodimer

OverviewNCBI Gene

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

414 residues, UniProt reviewed canonical sequence.

>Q13148|TARDBP
     1  MSEYIRVTED ENDEPIEIPS EDDGTVLLST VTAQFPGACG LRYRNPVSQC MRGVRLVEGI
    61  LHAPDAGWGN LVYVVNYPKD NKRKMDETDA SSAVKVKRAV QKTSDLIVLG LPWKTTEQDL
   121  KEYFSTFGEV LMVQVKKDLK TGHSKGFGFV RFTEYETQVK VMSQRHMIDG RWCDCKLPNS
   181  KQSQDEPLRS RKVFVGRCTE DMTEDELREF FSQYGDVMDV FIPKPFRAFA FVTFADDQIA
   241  QSLCGEDLII KGISVHISNA EPKHNSNRQL ERSGRFGGNP GGFGNQGGFG NSRGGGAGLG
   301  NNQGSNMGGG MNFGAFSINP AMMAAAQAAL QSSWGMMGML ASQQNQSGPS GNNQNQGNMQ
   361  REPNQAFGSG NNSYSGSNSG AAIGWGSASN AGSGSGFNGG FGSSMDSKSS GWGM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TARDBP 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)
0.5
Highest tissue expression
126 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 126 nTPM
  • tonsil: 115 nTPM
  • retina: 111 nTPM
  • thymus: 107 nTPM
  • lymph node: 99 nTPM
  • esophagus: 99 nTPM

Single-cell type

  • myonuclei: 135 nCPM
  • basal keratinocytes: 110 nCPM
  • erythrocyte progenitors: 108 nCPM
  • extravillous trophoblasts: 107 nCPM
  • epididymal basal cells: 106 nCPM
  • suprabasal keratinocytes: 105 nCPM

Immune cell

  • NK-cell: 67 nTPM
  • myeloid DC: 62 nTPM
  • MAIT T-cell: 58 nTPM
  • memory B-cell: 55 nTPM
  • T-reg: 54 nTPM
  • naive CD8 T-cell: 51 nTPM

Brain region

  • cerebellum: 100 nTPM
  • white matter: 99 nTPM
  • basal ganglia: 91 nTPM
  • choroid plexus: 87 nTPM
  • hypothalamus: 87 nTPM
  • midbrain: 85 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TARDBP.

Disease | AllUniProt

Conditions TARDBP is implicated in, by any mechanism.

  • Amyotrophic lateral sclerosis 10 (ALS10) MIM:612069

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 299 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Amyotrophic lateral sclerosis type 10
  • FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
  • TARDBP-related disorder
  • FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
  • Motor neuron disease

Disease | ImmuneIEDB

Conditions an epitope on TARDBP was assayed in.

Disease | AutoantibodyPubMed

Conditions in which antibodies against TARDBP are reported. Each links to that disease's full target list.

    Showing 0 of 1 — disease pages carrying at least 10 antigens.

    ReferencesPubMed · IEDB

    Publications for TARDBP from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

    Reference: AutoantibodyPubMed

    3 publications

    Reference: B cellIEDB

    1 publication

    Reference: T cellIEDB

    1 publication

    Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

    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)
    0.28
    gnomAD pLI
    0.99
    gnomAD missense Z
    3.71
    DepMap mean gene effect
    -0.91
    DepMap dependency class
    common

    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

    Molecular functions

    Cellular components

    Protein domainsUniProt · Pfam · InterPro

    KeywordsUniProt

    InteractionsUniProt · HPA

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

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

    Canonical record: https://seroatlas.com/gene/TARDBP. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

    Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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