Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

UBASH3A - ubiquitin associated and SH3 domain...

Homo sapiens

Synonyms: CLIP4, Cbl-interacting protein 4, STS-2, STS2, Suppressor of T-cell receptor signaling 2, ...

Wattenhofer, M. et al., Collingwood, T.S. et al.

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High impact information on UBASH3A

Mutation analysis excluded UBASH3A as being responsible for DFNB10 [1].
A semi-quantitative reverse transcription/polymerase chain reaction method revealed that UBASH3A gene expression is limited to only a few tissues, with its highest expression in spleen, peripheral blood leukocytes, and bone marrow [1].
The gene, thus called UBASH3A, spans 40 kb and is divided into 15 exons [1].

Regulatory relationships of UBASH3A

Analysis of the subcellular localization of TULA and AIF together with the functional analysis of TULA mutants is consistent with the idea that TULA enhances the apoptotic effect of AIF by facilitating the interactions of AIF with its apoptotic co-factors, which remain to be identified [2].

References

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Wattenhofer, M., Shibuya, K., Kudoh, J., Lyle, R., Michaud, J., Rossier, C., Kawasaki, K., Asakawa, S., Minoshima, S., Berry, A., Bonne-Tamir, B., Shimizu, N., Antonarakis, S.E., Scott, H.S. Hum. Genet. (2001) [Pubmed]
T-cell ubiquitin ligand affects cell death through a functional interaction with apoptosis-inducing factor, a key factor of caspase-independent apoptosis. Collingwood, T.S., Smirnova, E.V., Bogush, M., Carpino, N., Annan, R.S., Tsygankov, A.Y. J. Biol. Chem. (2007) [Pubmed]

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