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Gene Review

CHMP1B  -  charged multivesicular body protein 1B

Homo sapiens

Synonyms: C10orf2, C18-ORF2, C18orf2, CHMP1.5, CHMP1b, ...
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Disease relevance of CHMP1B


Psychiatry related information on CHMP1B


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


  1. 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]
  2. 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]
  3. 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]
  4. 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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