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Gene Review:

CHMP1B - charged multivesicular body protein 1B

Homo sapiens

Synonyms: C10orf2, C18-ORF2, C18orf2, CHMP1.5, CHMP1b, ...

Scott, A. et al., Vuoristo, J.T. et al., Reid, E. et al., McNabb, L.D. et al.

Reid, Connell, Edwards, Duley, Brown, Sanderson, McNabb, Moore, Scena, Buono, Berrettini,

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Disease relevance of CHMP1B

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B [1].

Psychiatry related information on CHMP1B

CONCLUSIONS: Variation in the CHMP1.5 gene does not appear to be associated with bipolar disorder [2].

High impact information on CHMP1B

Here, we report the solution structure of the N-terminal VPS4A microtubule interacting and transport (MIT) domain and demonstrate that the VPS4A MIT domain binds the C-terminal half of the ESCRT-III protein, CHMP1B (Kd = 20 +/- 13 microM) [3].
Mutational analyses revealed that a conserved leucine residue (Leu-64) on the third helix that would normally bind the fourth helix in an extended TPR is used to bind CHMP1B, raising the possibility that ESCRT-III proteins may bind by completing the TPR motif [3].
Association analysis of CHMP1.5 genetic variation and bipolar disorder [2].
We have characterized a novel intronless human gene (C18orf2) which is embedded in intron 5 of the G-protein gene (GNAL) on chromosome 18p11 [4].

Biological context of CHMP1B

C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11 [4].

Anatomical context of CHMP1B

Epitope-tagged CHMP1B and spastin showed clear cytoplasmic co-localization in Cos-7 and PC12 cells [1].

References

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Reid, E., Connell, J., Edwards, T.L., Duley, S., Brown, S.E., Sanderson, C.M. Hum. Mol. Genet. (2005) [Pubmed]
Association analysis of CHMP1.5 genetic variation and bipolar disorder. McNabb, L.D., Moore, K.W., Scena, J.E., Buono, R.J., Berrettini, W.H. Psychiatr. Genet. (2005) [Pubmed]
Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A. Scott, A., Gaspar, J., Stuchell-Brereton, M.D., Alam, S.L., Skalicky, J.J., Sundquist, W.I. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11. Vuoristo, J.T., Berrettini, W.H., Ala-Kokko, L. Cytogenet. Cell Genet. (2001) [Pubmed]

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