TSPY1

Chr Y

testis specific protein Y-linked 1

Also known as: CT78, DYS14, TSPY, pJA923

NCBI Gene: 7258 ENSG00000258992 UniProt: Q01534

The protein encoded by TSPY1 is expressed exclusively in testicular tissue and is involved in sperm differentiation and proliferation during spermatogenesis. This gene has low constraint against loss-of-function variants (LOEUF 1.87), and no established disease associations have been reported in the provided data. TSPY1 exists as part of a multi-copy gene cluster with many functional paralogs, which may provide functional redundancy.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.87

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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