Seroatlas · Human Serome Atlas

TSPYL1

Testis-specific Y-encoded-like protein 1

Also known as: TSPYL, TSYL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H0U9
Gene: TSPYL1
Ensembl: ENSG00000189241
Chromosome: 6
Canonical length: 437 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>Q9H0U9|TSPYL1
     1  MSGLDGVKRT TPLQTHSIII SDQVPSDQDA HQYLRLRDQS EATQVMAEPG EGGSETVALP
    61  PPPPSEEGGV PQDAAGRGGT PQIRVVGGRG HVAIKAGQEE GQPPAEGLAA ASVVMAADRS
   121  LKKGVQGGEK ALEICGAQRS ASELTAGAEA EAEEVKTGKC ATVSAAVAER ESAEVVKEGL
   181  AEKEVMEEQM EVEEQPPEGE EIEVAEEDRL EEEAREEEGP WPLHEALRMD PLEAIQLELD
   241  TVNAQADRAF QQLEHKFGRM RRHYLERRNY IIQNIPGFWM TAFRNHPQLS AMIRGQDAEM
   301  LRYITNLEVK ELRHPRTGCK FKFFFRRNPY FRNKLIVKEY EVRSSGRVVS LSTPIIWRRG
   361  HEPQSFIRRN QDLICSFFTW FSDHSLPESD KIAEIIKEDL WPNPLQYYLL REGVRRARRR
   421  PLREPVEIPR PFGFQSG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TSPYL1 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): 0.57
Highest tissue expression: 108 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 108 nTPM
cerebral cortex: 88 nTPM
tongue: 86 nTPM
basal ganglia: 72 nTPM
cerebellum: 68 nTPM
parathyroid gland: 60 nTPM

Single-cell type

parietal cells: 306 nCPM
esophageal apical cells: 182 nCPM
gastric chief cells: 146 nCPM
basal keratinocytes: 145 nCPM
breast hormone-responsive cells: 131 nCPM
epididymal efferent duct ciliated cells: 131 nCPM

Immune cell

basophil: 121 nTPM
MAIT T-cell: 61 nTPM
non-classical monocyte: 58 nTPM
memory CD4 T-cell: 52 nTPM
naive B-cell: 52 nTPM
eosinophil: 52 nTPM

Brain region

cerebral cortex: 206 nTPM
basal ganglia: 161 nTPM
white matter: 134 nTPM
hypothalamus: 126 nTPM
hippocampal formation: 120 nTPM
cerebellum: 119 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TSPYL1.

Disease | AllUniProt

Conditions TSPYL1 is implicated in, by any mechanism.

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) MIM:608800

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 95 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Sudden infant death-dysgenesis of the testes syndrome

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): 1.32
gnomAD pLI: 0
gnomAD missense Z: 0.42
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

nucleosome assembly

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TSPYL1 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 TSPYL1 as an antibody target. Whether an autoantibody or antibody against TSPYL1 could matter depends on whether native TSPYL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TSPYL1 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 TSPYL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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