1x3s | pdb_00001x3s

Crystal structure of human Rab18 in complex with Gppnhp

Structural highlights

1x3s is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:	GNP, MG
NonStd Res:	MSE
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT, TOPSAN

Disease

[RAB18_HUMAN] Defects in RAB18 are the cause of Warburg micro syndrome type 3 (WARBM3) [MIM:614222]. WARBM3 is a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.^[1]

Function

[RAB18_HUMAN] Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.^[2]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. PMID:21473985 doi:10.1016/j.ajhg.2011.03.012
↑ Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. PMID:21473985 doi:10.1016/j.ajhg.2011.03.012

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OCA

[1] Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. PMID:21473985 doi:10.1016/j.ajhg.2011.03.012

[2] Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. PMID:21473985 doi:10.1016/j.ajhg.2011.03.012

[1]

[2]

1x3s | pdb_00001x3s

Crystal structure of human Rab18 in complex with Gppnhp

Structural highlights

Disease

Function

Evolutionary Conservation

See Also

References

Contents

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