Seroatlas · Human Serome Atlas

THUMPD1

THUMP domain-containing protein 1

Also known as: FLJ20274, Tan1, THUM1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NXG2
Gene: THUMPD1
Ensembl: ENSG00000066654
Chromosome: 16
Canonical length: 353 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

353 residues, UniProt reviewed canonical sequence.

>Q9NXG2|THUMPD1
     1  MAAPAQQTTQ PGGGKRKGKA QYVLAKRARR CDAGGPRQLE PGLQGILITC NMNERKCVEE
    61  AYSLLNEYGD DMYGPEKFTD KDQQPSGSEG EDDDAEAALK KEVGDIKAST EMRLRRFQSV
   121  ESGANNVVFI RTLGIEPEKL VHHILQDMYK TKKKKTRVIL RMLPISGTCK AFLEDMKKYA
   181  ETFLEPWFKA PNKGTFQIVY KSRNNSHVNR EEVIRELAGI VCTLNSENKV DLTNPQYTVV
   241  VEIIKAVCCL SVVKDYMLFR KYNLQEVVKS PKDPSQLNSK QGNGKEAKLE SADKSDQNNT
   301  AEGKNNQQVP ENTEELGQTK PTSNPQVVNE GGAKPELASQ ATEGSKSNEN DFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against THUMPD1 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): 0.44
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

breast: 36 nTPM
prostate: 31 nTPM
parathyroid gland: 29 nTPM
epididymis: 27 nTPM
endometrium: 24 nTPM
smooth muscle: 23 nTPM

Single-cell type

epicardial cells: 691 nCPM
fibroblasts: 258 nCPM
prostatic glandular cells: 167 nCPM
platelets: 120 nCPM
lacrimal acinar cells: 116 nCPM
endometrial luminal cells: 109 nCPM

Immune cell

naive CD4 T-cell: 20 nTPM
MAIT T-cell: 20 nTPM
eosinophil: 19 nTPM
naive CD8 T-cell: 18 nTPM
memory CD4 T-cell: 16 nTPM
gdT-cell: 15 nTPM

Brain region

hypothalamus: 19 nTPM
choroid plexus: 18 nTPM
cerebellum: 18 nTPM
white matter: 17 nTPM
cerebral cortex: 16 nTPM
basal ganglia: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about THUMPD1.

Disease | AllUniProt

Conditions THUMPD1 is implicated in, by any mechanism.

Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) MIM:619989

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 73 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder
Neurodevelopmental disorder with speech delay and variable ocular anomalies

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): 1.58
gnomAD pLI: 0
gnomAD missense Z: 0.48
DepMap mean gene effect: -0.07
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

Protein domainsUniProt · Pfam · InterPro

THUMP domain
THUMP domain
THUMP domain-containing protein 1-like

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of THUMPD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

NAT10

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads THUMPD1 as an antibody target. Whether an autoantibody or antibody against THUMPD1 could matter depends on whether native THUMPD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

THUMPD1 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 THUMPD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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